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1946 2
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1974 24
1975 42
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1980 51
1981 51
1982 61
1983 73
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1986 64
1987 58
1988 71
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1994 71
1995 63
1996 65
1997 56
1998 60
1999 67
2000 72
2001 70
2002 67
2003 74
2004 77
2005 79
2006 87
2007 91
2008 109
2009 103
2010 117
2011 122
2012 130
2013 145
2014 144
2015 121
2016 146
2017 143
2018 121
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Lung microbial dysregulation and TNF inhibition contribute to worsened nontuberculous mycobacterial lung disease.
Napier E, Cinco I, Stuart E, Davies M, Leach C, Damron E, Gokmen M, Leestemaker-Palmer A, Nuss S, Bumgardner C, Kohama S, Bermudez L, Winthrop K, Fuss C, Spindel E, Messaoudi I. Napier E, et al. Res Sq [Preprint]. 2026 Feb 5:rs.3.rs-8703262. doi: 10.21203/rs.3.rs-8703262/v1. Res Sq. 2026. PMID: 41684751 Free PMC article. Preprint.
Inflectra-treated animals favored an acute-phase response that persisted up to 114 days after inoculation and one Inflectra-treated animal developed chronic granulomatous disease. No control animals showed granulomas. These data suggest that lung microbiome d …
Inflectra-treated animals favored an acute-phase response that persisted up to 114 days after inoculation and one Inflectra-treated animal d …
Research Progress on Chronic Granulomatous Disease in Children.
Zhang Z, Li W, Wang Y. Zhang Z, et al. Cureus. 2026 Jan 9;18(1):e101159. doi: 10.7759/cureus.101159. eCollection 2026 Jan. Cureus. 2026. PMID: 41664758 Free PMC article. Review.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by defective neutrophil oxidative burst function, leading to impaired host defense against pathogenic microorganisms. ...
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by defective neutrophil o …
Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.
da Rosa LM, da Rosa MB, Wilson MSLJ, Schwartz IVD, Sperb-Ludwig F. da Rosa LM, et al. J Gene Med. 2026 Feb;28(2):e70086. doi: 10.1002/jgm.70086. J Gene Med. 2026. PMID: 41651679 Free PMC article.
Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by defects in components of the NADPH oxidase that impair the elimination of infectious microorganisms. ...
Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by defects in components of the NADPH oxi …
Misleading presentation of tuberculosis in a child with CGD revealing invasive aspergillosis: A molecularly confirmed case.
Aghajani M, Parvaneh N, Mahmoudi S, Khansari M, Haghighat F, Sarvestani KK, Mirsaid RG, Sarvestani HK. Aghajani M, et al. IDCases. 2026 Jan 21;43:e02499. doi: 10.1016/j.idcr.2026.e02499. eCollection 2026. IDCases. 2026. PMID: 41641344 Free PMC article.
BACKGROUND AND PURPOSE: Patients with chronic granulomatous disease (CGD) are susceptible to serious infections including, invasive aspergillosis (IA), which remains a major cause of morbidity and mortality. ...
BACKGROUND AND PURPOSE: Patients with chronic granulomatous disease (CGD) are susceptible to serious infections includi …
Neutrophil progenitor cell therapy rescues host defense against Staphylococcus aureus in murine chronic granulomatous disease.
Hinman KD, Machan JT, Lefort CT. Hinman KD, et al. J Leukoc Biol. 2026 Feb 3:qiag020. doi: 10.1093/jleuko/qiag020. Online ahead of print. J Leukoc Biol. 2026. PMID: 41632796
Here we demonstrate the therapeutic value of NPs using a murine model of the primary immunodeficiency chronic granulomatous disease (CGD). Those with CGD are highly susceptible to infection with Staphylococcus aureus because of genetic mutations that impair n …
Here we demonstrate the therapeutic value of NPs using a murine model of the primary immunodeficiency chronic granulomatous …
[An adolescent male presenting with fever and pulmonary opacities].
Yang YM, Zhou WJ, Li YX, Liu YP, Gao L, Mou WJ, Peng M, Tian XL, Shi JH, Feng RE, Shi C. Yang YM, et al. Zhonghua Jie He He Hu Xi Za Zhi. 2026 Feb 12;49(2):172-176. doi: 10.3760/cma.j.cn112147-20250807-00472. Zhonghua Jie He He Hu Xi Za Zhi. 2026. PMID: 41629094 Chinese.
Dihydrorhodamine assay demonstrated absent oxidative burst in the patient, subsequent genomic analysis identified a homozygous pathogenic NCF1 variation (c.75_76del; p.Tyr26Hisfs*26), confirming the diagnosis of chronic granulomatous disease. His symptoms res …
Dihydrorhodamine assay demonstrated absent oxidative burst in the patient, subsequent genomic analysis identified a homozygous pathogenic NC …
Phagocyte NADPH Oxidase NOX2-Derived Reactive Oxygen Species in Antimicrobial Defense: Mechanisms, Regulation, and Therapeutic Potential-A Narrative Review.
Țocu G, Ștefănescu BI, Stavăr Matei L, Țocu L. Țocu G, et al. Antioxidants (Basel). 2025 Dec 31;15(1):55. doi: 10.3390/antiox15010055. Antioxidants (Basel). 2025. PMID: 41596113 Free PMC article. Review.
We summarize evidence that both ROS deficiency, as in chronic granulomatous disease, and uncontrolled excess, as in sepsis and severe COVID-19, drive clinically significant pathology, emphasizing the need for precise redox balance. ...
We summarize evidence that both ROS deficiency, as in chronic granulomatous disease, and uncontrolled excess, as in sep …
Unmasking Invasive Pulmonary Aspergillosis: Insights From a Case Series at a Tertiary Care Center.
Munasinghe K, Nanayakkara AM, De Zoysa W, Rodrigo D, Samarasekera G. Munasinghe K, et al. Cureus. 2025 Dec 25;17(12):e100065. doi: 10.7759/cureus.100065. eCollection 2025 Dec. Cureus. 2025. PMID: 41583184 Free PMC article.
Additional risk factors include severe or prolonged viral infections such as influenza and COVID-19 requiring intensive care, as well as underlying conditions such as diabetes mellitus and chronic granulomatous disease. Although the clinical course could be v …
Additional risk factors include severe or prolonged viral infections such as influenza and COVID-19 requiring intensive care, as well as und …
Chronic Granulomatous Disease.
Leiding JW, Holland SM. Leiding JW, et al. 2012 Aug 9 [updated 2026 Jan 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2012 Aug 9 [updated 2026 Jan 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 22876374 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. ...
CLINICAL CHARACTERISTICS: Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neu …
Elevated type I interferon signature in patients with chronic granulomatous disease.
Aggarwal R, Vignesh P, Dod A, Vinay K, Sharma S, Singh S, Rawat A. Aggarwal R, et al. Clin Exp Immunol. 2026 Jan 6;220(1):uxag003. doi: 10.1093/cei/uxag003. Clin Exp Immunol. 2026. PMID: 41559882
Chronic granulomatous disease (CGD) patients develop repeated infections and inflammatory complications. ...
Chronic granulomatous disease (CGD) patients develop repeated infections and inflammatory complications. ...
Beyond Fumigatus: a molecular portrait of clinical Aspergillus diversity, pathogenicity, and antifungal resistance.
Aneke CI, Shahegh SS, Freeman AF, Zerbe C, Kwon-Chung KJ, Holland S, Fennelly K, Lionakis MS, Seyedmousavi A. Aneke CI, et al. Antimicrob Agents Chemother. 2026 Feb 4;70(2):e0118425. doi: 10.1128/aac.01184-25. Epub 2026 Jan 13. Antimicrob Agents Chemother. 2026. PMID: 41528247 Free PMC article.
The most common underlying clinical conditions among patients were bronchiectasis (35%), chronic granulomatous disease (22%), and pulmonary non-tuberculous mycobacterial infection (17%). Out of 107 patients, eight died (8/107, 7.5%); six of these deaths occur …
The most common underlying clinical conditions among patients were bronchiectasis (35%), chronic granulomatous disease …
Dysregulation of U12-Type Splicing in Lupus Neutrophils.
Blanco LP, Regmi B, Carmona-Rivera C, Liu Y, Wang X, Carlucci PM, Jackson MM, Manna Z, Hasni S, Hafner M, Sun HW, Kaplan MJ. Blanco LP, et al. Arthritis Rheumatol. 2026 Jan 12. doi: 10.1002/art.70053. Online ahead of print. Arthritis Rheumatol. 2026. PMID: 41524512
RESULTS: CYBA expression was reduced in SLE LDGs (n=11) compared to SLE NDGs and HCs (n=6), with levels resembling those in chronic granulomatous disease neutrophils. SLE LDGs exhibited impaired Nox activity (n=7 SLE, n=12 HC). ...
RESULTS: CYBA expression was reduced in SLE LDGs (n=11) compared to SLE NDGs and HCs (n=6), with levels resembling those in chronic …
Erythema Nodosum Leprosum Triggered by Herpes Simplex Infection: A Case Report.
Al-Anbagi U, Nashwan AJ, Al Hyassat S, Assaf FJ, Abdulmajeed HA, Mohamed AH. Al-Anbagi U, et al. Cureus. 2025 Dec 9;17(12):e98854. doi: 10.7759/cureus.98854. eCollection 2025 Dec. Cureus. 2025. PMID: 41523489 Free PMC article.
Leprosy, caused by Mycobacterium leprae, is a chronic granulomatous disease primarily affecting the skin and peripheral nerves. Erythema nodosum leprosum (ENL), or type 2 lepra reaction, is an immunologic complication of lepromatous leprosy, often presenting …
Leprosy, caused by Mycobacterium leprae, is a chronic granulomatous disease primarily affecting the skin and peripheral …
Ulcerative Necrobiosis Lipoidica in the Setting of Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma and Glucose-6-Phosphate Dehydrogenase Deficiency.
Casey MJ, Veon FL, Bhanot A, Gehrs B, McBride JD. Casey MJ, et al. Cureus. 2025 Dec 9;17(12):e98791. doi: 10.7759/cureus.98791. eCollection 2025 Dec. Cureus. 2025. PMID: 41523375 Free PMC article.
Necrobiosis lipoidica (NL) is a chronic granulomatous disease most commonly manifesting as yellow, atrophic plaques and ulcerations on the lower extremities. ...
Necrobiosis lipoidica (NL) is a chronic granulomatous disease most commonly manifesting as yellow, atrophic plaques and …
Neonatal-Onset Chronic Granulomatous Disease Presenting With Recurrent Culture-Negative Meningitis: A Case Report and Diagnostic Considerations.
Hetta AA, Shakarnah RG, Salah KR, Hroub JY, Khatib AN, Rabei AH. Hetta AA, et al. Case Reports Immunol. 2026 Jan 7;2026:1817159. doi: 10.1155/crii/1817159. eCollection 2026. Case Reports Immunol. 2026. PMID: 41509559 Free PMC article.
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocyte oxidative burst and may present in early life with severe or recurrent infections. ...
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocyte oxidative burst and may …
Sarcoidosis Mimicking Metastatic Disease: Multisystem Involvement With Osseous Manifestations.
Canedo F, Duarte I, Rodrigues J, Carvalhinho MI, Borba A. Canedo F, et al. Cureus. 2025 Dec 3;17(12):e98390. doi: 10.7759/cureus.98390. eCollection 2025 Dec. Cureus. 2025. PMID: 41487849 Free PMC article.
Sarcoidosis is a chronic granulomatous disease of unknown etiology that can affect multiple organs, most frequently the lungs, lymph nodes, skin, and eyes. ...
Sarcoidosis is a chronic granulomatous disease of unknown etiology that can affect multiple organs, most frequently the …
Bladder masses simulating neoplasia in chronic granulomatous disease: Diagnostic challenges and spontaneous regression.
Dadpour M, Soleimanifard N, Alishah S, Chalaki M. Dadpour M, et al. Urol Case Rep. 2025 Dec 8;64:103312. doi: 10.1016/j.eucr.2025.103312. eCollection 2026 Jan. Urol Case Rep. 2025. PMID: 41479599 Free PMC article.
Chronic granulomatous disease (CGD) rarely involves the lower urinary tract, and bladder mass-like lesions are exceptionally uncommon. ...
Chronic granulomatous disease (CGD) rarely involves the lower urinary tract, and bladder mass-like lesions are exceptio …
X-linked chronic granulomatous disease combined with disseminated nontuberculous mycobacteria and fungal infections: Diagnosis and treatment analysis.
Huang W, He Y, Zhan L, Shi X. Huang W, et al. Medicine (Baltimore). 2025 Dec 26;104(52):e46453. doi: 10.1097/MD.0000000000046453. Medicine (Baltimore). 2025. PMID: 41466007 Free PMC article.
RATIONALE: X-linked chronic granulomatous disease (X-CGD) is a rare genetic immunodeficiency, predominantly affecting males. ...
RATIONALE: X-linked chronic granulomatous disease (X-CGD) is a rare genetic immunodeficiency, predominantly affecting m …
TYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.
Sikhayeva N, Volodchenko S, Kovzel E, Toleuzhanova A, Romanova A, Tortayeva G, Sagandykova Y, Morenko M, Bolatov A, Akhmetollayev I. Sikhayeva N, et al. Genes (Basel). 2025 Dec 2;16(12):1445. doi: 10.3390/genes16121445. Genes (Basel). 2025. PMID: 41465118 Free PMC article.
Background/Objectives: Hereditary anomalies in the TYK2 gene are the basis of a rare primary immunodeficiency, immunodeficiency-35, typified by an augmented vulnerability to mycobacterial and viral infections. Clinical overlap with chronic granulomatous disease …
Background/Objectives: Hereditary anomalies in the TYK2 gene are the basis of a rare primary immunodeficiency, immunodeficiency-35, typified …
Incidence, risk factors and outcomes of BCGosis following BCG vaccination in infants: a systematic review and meta-analyses.
Riyas Mohamed FR, Nisar M, Saeed I, Irfan MR, Khalid A, Faiz M, Younis AF, Javed S, Sen A, Azam A, Raji MA, Barakzai A, Shibl AM, Kim Sing G. Riyas Mohamed FR, et al. Front Immunol. 2025 Dec 11;16:1615039. doi: 10.3389/fimmu.2025.1615039. eCollection 2025. Front Immunol. 2025. PMID: 41459544 Free PMC article.
RESULTS: Not surprisingly, BCGosis is most prevalent in infants with underlying genetic immunodeficiencies such as severe combined immunodeficiency (SCID) and chronic granulomatous disease (CGD). We found a high correlation between the development of BCGosis …
RESULTS: Not surprisingly, BCGosis is most prevalent in infants with underlying genetic immunodeficiencies such as severe combined immunodef …
Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.
Kang Z, Qiu X, Ma Y, Zhang L. Kang Z, et al. Immunol Res. 2025 Dec 18;73(1):173. doi: 10.1007/s12026-025-09730-6. Immunol Res. 2025. PMID: 41410980
Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI) characterized by a defective respiratory burst in phagocytes and defective clearance of phagocytosed microorganisms. ...
Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI) characterized by a defective respiratory b …
Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns.
Tahiat A, Touri S, Saad-Djaballah A, Hakem S, Fernini F, Aggoune S, Belhadj H, Bendahmane C, Mokrane L, Bencharif Madani T, Benhacine Z, Melzi S, Aboura R, Messaoudi H, Boudiaf H, Ladj MS, Khelifi Touhami T, Taibi L, Zobiri S, Bouhdjila R, Bouzerar Z, Ibsaine O, Kedji L, Yagoubi A, Belbouab R, Boukari R, Smati L, Rosenzweig SD, Bogunovic D, Notarangelo LD, Djenouhat K. Tahiat A, et al. Front Immunol. 2025 Nov 28;16:1725282. doi: 10.3389/fimmu.2025.1725282. eCollection 2025. Front Immunol. 2025. PMID: 41394846 Free PMC article.
Autoimmune cytopenias predominated in T-cell defects, including hypomorphic RAG and CD3gamma deficiencies; Inflammatory bowel disease (IBD) was enriched in ARPC1B, DOCK8, and CD55 deficiencies, as well as in chronic granulomatous disease (CGD); endocrine auto …
Autoimmune cytopenias predominated in T-cell defects, including hypomorphic RAG and CD3gamma deficiencies; Inflammatory bowel disease (IBD) …
X-Linked Immunodeficiency.
Chamarthi VS, Chamarthi S. Chamarthi VS, et al. 2025 Dec 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2025 Dec 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 32965853 Free Books & Documents.
Among this group of disorders, 7 major X-linked immunodeficiency disorders have been well-characterized: X-linked chronic granulomatous disease (X-CGD), X-linked hyper-IgM syndrome, X-linked lymphoproliferative syndrome (XLP), Wiskott-Aldrich syndrome (WAS), …
Among this group of disorders, 7 major X-linked immunodeficiency disorders have been well-characterized: X-linked chronic granulom …
Enophthalmos.
Shah SS, Patel BC. Shah SS, et al. 2025 Dec 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2025 Dec 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 33085447 Free Books & Documents.
Inflammatory and infectious processes can also alter orbital anatomy. Chronic granulomatous disease, orbital pseudotumor, and postinflammatory fibrosis may lead to contracture of periorbital tissues and scarring, tethering the globe. ...
Inflammatory and infectious processes can also alter orbital anatomy. Chronic granulomatous disease, orbital pseudotumo …
Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data.
Jurczuk A, Bałdyga P, Płoński A, Jurczuk M, Garley M. Jurczuk A, et al. Cells. 2025 Dec 1;14(23):1902. doi: 10.3390/cells14231902. Cells. 2025. PMID: 41369391 Free PMC article. Review.
The review also examines more complex disorders, including chronic granulomatous disease (CGD), common variable immunodeficiency (CVID), and X-linked agammaglobulinemia (XLA), in which TLR signaling may be either impaired or dysregulated. ...
The review also examines more complex disorders, including chronic granulomatous disease (CGD), common variable immunod …
Prime Editing for p47(phox)-Deficient Chronic Granulomatous Disease.
Gori JL, Haddad E, Frangoul H, Kohn DB, Morris EC, Martin BN, Deary BA, Nickerson M, Scholz RL, Fernandez I, Leveille K, De Ravin SS, Kang EM, Pierzynski M, Estwick T, Littel P, Kuhns DB, Long Priel DA, Teira P, Turvey S, Arnold J, Evans MD, McManus M, Carpenter B, Waterman DP, Anzalone AV, Petrusich A, Osuna CE, O'Malley TT, Stewart-Ornstein J, Heath JM, Nehilla BJ, Asmal M, Malech HL. Gori JL, et al. N Engl J Med. 2025 Dec 7. doi: 10.1056/NEJMoa2509807. Online ahead of print. N Engl J Med. 2025. PMID: 41358590
Chronic granulomatous disease (CGD) is a severe monogenic immunodeficiency caused by damaging variants in genes required for microbicidal NADPH oxidase activity. ...
Chronic granulomatous disease (CGD) is a severe monogenic immunodeficiency caused by damaging variants in genes require …
NLRP3 inflammasome blockade treats intestinal inflammation associated with chronic granulomatous disease.
Darbinian E, Mlaga KD, Aranguren M, Desjardins A, Martineau E, Massé C, Leiding JW, Poudrier J, Falcone EL. Darbinian E, et al. Blood. 2025 Dec 1:blood.2025029676. doi: 10.1182/blood.2025029676. Online ahead of print. Blood. 2025. PMID: 41326329
Chronic granulomatous disease (CGD) is an inborn error of immunity associated with a 50% prevalence of inflammatory bowel disease (IBD) for which current treatments are suboptimal due to increased risk of infections in this population. ...
Chronic granulomatous disease (CGD) is an inborn error of immunity associated with a 50% prevalence of inflammatory bow …
Comparative volatilomics identifies ubiquitous sulfur compounds inhibiting the fungal pathogen Rasamsonia argillacea.
Adam D, Bensaada D, Stulanovic N, Focant J-F, Stefanuto P-H, Rigali S. Adam D, et al. Microbiol Spectr. 2026 Jan 6;14(1):e0266625. doi: 10.1128/spectrum.02666-25. Epub 2025 Nov 28. Microbiol Spectr. 2026. PMID: 41313023 Free PMC article.
In previous work, Streptomyces strains isolated from cave moonmilk deposits completely inhibited the growth of Rasamsonia argillacea, an emerging fungal pathogen associated with chronic granulomatous disease (CGD) and cystic fibrosis (CF). Cross-streak and bi …
In previous work, Streptomyces strains isolated from cave moonmilk deposits completely inhibited the growth of Rasamsonia argillacea, an eme …
An optimized protocol for isolating Rhinosporidium seeberi sporangia from rhinosporidiosis tissue and extracting genomic DNA for next-generation sequencing.
Sasidharan SP, James S, Balan S, Manakkadan A. Sasidharan SP, et al. Mol Biol Rep. 2025 Nov 26;53(1):117. doi: 10.1007/s11033-025-11280-x. Mol Biol Rep. 2025. PMID: 41296150
BACKGROUND: Rhinosporidium seeberi is the causative agent of rhinosporidiosis, a chronic granulomatous disease. Progress in the comprehensive genomic characterization of this organism, which is indispensable for elucidating its pathogenic mechanisms, has been …
BACKGROUND: Rhinosporidium seeberi is the causative agent of rhinosporidiosis, a chronic granulomatous disease. Progres …
Evaluation of a rapid flow cytometry assay to assess functional engraftment in CGD patients post-transplant and comparison with molecular chimerism.
Mai L, Cornaby C, Baxter-Lowe LA, Kapoor N, O'Gorman MR. Mai L, et al. J Immunol Methods. 2026 Jan;546:114006. doi: 10.1016/j.jim.2025.114006. Epub 2025 Nov 22. J Immunol Methods. 2026. PMID: 41285273
This study explores the value of the Dihydrorhodamine-123 (DHR-123) flow cytometry assay to rapidly measure donor neutrophil engraftment (chimerism) in patients with Chronic Granulomatous Disease (CGD) following hematopoietic stem cell transplant (HSCT). ...
This study explores the value of the Dihydrorhodamine-123 (DHR-123) flow cytometry assay to rapidly measure donor neutrophil engraftment (ch …
Dysregulation of U12-Type Splicing in Lupus Neutrophils.
Blanco LP, Regmi B, Carmona-Rivera C, Liu Y, Wang X, Carlucci PM, Jackson MM, Manna Z, Hasni S, Hafner M, Sun HW, Kaplan MJ. Blanco LP, et al. bioRxiv [Preprint]. 2025 Nov 7:2025.11.06.686965. doi: 10.1101/2025.11.06.686965. bioRxiv. 2025. Update in: Arthritis Rheumatol. 2026 Jan 12. doi: 10.1002/art.70053. PMID: 41279038 Free PMC article. Updated. Preprint.
RESULTS: CYBA expression was reduced in SLE LDGs (n=11) compared to SLE NDGs and HCs (n=6), with levels resembling those in chronic granulomatous disease neutrophils. SLE LDGs exhibited impaired Nox activity (n=7 SLE, n=12 HC). ...
RESULTS: CYBA expression was reduced in SLE LDGs (n=11) compared to SLE NDGs and HCs (n=6), with levels resembling those in chronic …
Breaking the mold: a case of invasive Medicopsis romeroi pulmonary infection with innovative granulocyte treatment strategy.
Raymond C, Seyedmousavi A, Zelazny AM, Treat JD, Aneke C, Zarpak R, West-Mitchell K, Holland SM, Zerbe CS. Raymond C, et al. ASM Case Rep. 2025 Aug 5;1(6):e00060-25. doi: 10.1128/asmcr.00060-25. eCollection 2025 Nov. ASM Case Rep. 2025. PMID: 41244279 Free PMC article.
We report a rare case of invasive infection in a specific primary immunodeficiency not arising from primary cutaneous infection. CASE SUMMARY: A 16-year-old male with chronic granulomatous disease (CGD) developed progressively enlarging diffuse pulmonary nodu …
We report a rare case of invasive infection in a specific primary immunodeficiency not arising from primary cutaneous infection. CASE SUMMAR …
Job's not done: BCG-itis as the first manifestation of hyper-IgE syndrome. A case report and review of the literature.
Staines-Boone AT, Venegas-Montoya E, García Campos JA, Obregón García JA, Marmolejo Bjirsdorp JC, Salazar Gálvez Y, Cruz-Muñoz ME, Blancas Galicia L, Medina-Torres EA, Espinosa-Padilla SE, Olguín Calderón D, Berrón-Ruiz L, Lugo Reyes SO. Staines-Boone AT, et al. Clin Immunol. 2026 Jan;282:110639. doi: 10.1016/j.clim.2025.110639. Epub 2025 Nov 14. Clin Immunol. 2026. PMID: 41242409 Review.
Type 2 interferon immunity and superoxide production are key in combating mycobacterial diseases like Mendelian Susceptibility to Mycobacterial Disease and Chronic Granulomatous Disease. Studies show that Asian and Latin American patients are overrepresented …
Type 2 interferon immunity and superoxide production are key in combating mycobacterial diseases like Mendelian Susceptibility to Mycobacter …
Fungal Infections - a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years' Experience from North India.
Vignesh P, Mondal S, Aggarwal R, Siniah S, Loganathan SK, Bhattarai D, Das J, Goel S, Sharma K, Kaur H, Sekar A, Dhaliwal M, Sharma S, Pilania RK, Jindal AK, Suri D, Gupta K, Rudramurthy SM, Rawat A, Singh S. Vignesh P, et al. J Clin Immunol. 2025 Nov 7;45(1):153. doi: 10.1007/s10875-025-01940-9. J Clin Immunol. 2025. PMID: 41201521 Free PMC article.
Fungal infections contribute to a significant disease burden in patients with chronic granulomatous disease (CGD). While the presentation may differ depending on genotype and environmental exposure to fungus, associated mortality rates are universally high. . …
Fungal infections contribute to a significant disease burden in patients with chronic granulomatous disease (CGD). Whil …
Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review.
Lefevre L, Paccoud O, Neven B, Bougnoux ME, Alligon M, Bruneau J, Fischer A, Moshous D, Bustamante J, Picard C, Poiree S, Guery R, Castelle M, Suarez F, Marcais A, Cheminant M, Rouzaud C, Hermoso DG, Salvator H, Catherinot E, Pilmis B, Luca L, Brion JP, Revest M, Gandemer V, Lelievre L, Alvarez M, Conrad A, Fouyssac F, Gaud C, Blumental S, Blanche S, Lortholary O, Mahlaoui N, Lanternier F. Lefevre L, et al. J Clin Immunol. 2025 Nov 6;45(1):152. doi: 10.1007/s10875-025-01903-0. J Clin Immunol. 2025. PMID: 41193884 Free PMC article. Review.
BACKGROUND: Non-Aspergillus invasive fungal infections (NAFI) are increasingly reported in patients with Chronic Granulomatous Disease (CGD), but precise clinical descriptions remain scarce. OBJECTIVE AND METHODS: We conducted a retrospective analysis of NAFI …
BACKGROUND: Non-Aspergillus invasive fungal infections (NAFI) are increasingly reported in patients with Chronic Granulomatous …
Excellent Outcome of 1-Day Nonmyeloablative Salvage Regimen for Pediatric Patients with Graft Failure following Haploidentical Hematopoietic Stem Cell Transplantation.
Chan WYK, Lee PPW, Cheuk DKL, Leung W. Chan WYK, et al. Transplant Cell Ther. 2026 Feb;32(2):201.e1-201.e16. doi: 10.1016/j.jtct.2025.10.030. Epub 2025 Oct 31. Transplant Cell Ther. 2026. PMID: 41176032
Underlying diseases included transfusion-dependent anemias (n = 7; beta-thalassemia major = 4, hemoglobin Hammersmith = 1, pyruvate kinase deficiency = 1, severe aplastic anemia = 1), chronic granulomatous disease (n = 1), acute lymphoblastic leukemia (n = 1) …
Underlying diseases included transfusion-dependent anemias (n = 7; beta-thalassemia major = 4, hemoglobin Hammersmith = 1, pyruvate kinase d …
Hemophagocytic lymphohistiocytosis in 60 Mexican children with chronic granulomatous disease.
Monroy-García AS, Cova-Guzmán TL, Rodriguez Lozano AL, Rivas-Larrauri F, Scheffler-Mendoza S, Espinosa-Navarro M, Bustamante-Ogando JC, Salazar-Galvéz Y, Rojas-Maruri CM, Corcuera-Delgado CT, Medina-Vera I, Espinosa-Padilla S, Yamazaki-Nakashimada MA, Blancas-Galicia L. Monroy-García AS, et al. Pediatr Allergy Immunol. 2025 Nov;36(11):e70234. doi: 10.1111/pai.70234. Pediatr Allergy Immunol. 2025. PMID: 41174960
BACKGROUND: Patients with chronic granulomatous disease (CGD) can develop hemophagocytic lymphohistiocytosis (HLH), exacerbating mortality risk. ...
BACKGROUND: Patients with chronic granulomatous disease (CGD) can develop hemophagocytic lymphohistiocytosis (HLH), exa …
Chronic Granulomatous Disease in Pregnancy: a Rare Case Report.
Al-Sattam ZMJ, Kamal ZB. Al-Sattam ZMJ, et al. Folia Med (Plovdiv). 2025 Oct 30;67(5). doi: 10.3897/folmed.67.e142724. Folia Med (Plovdiv). 2025. PMID: 41163607
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder that is either X-linked or autosomal recessive and is characterized by recurrent infections. ...
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder that is either X-linked or autosomal recessi …
Nocardia in inborn errors in immunity.
Salgaonkar S, Iyengar VV, Chougule A, Gowri V, Taur P, Desai MM. Salgaonkar S, et al. Infect Dis (Lond). 2025 Dec;57(12):1206-1210. doi: 10.1080/23744235.2025.2576068. Epub 2025 Oct 22. Infect Dis (Lond). 2025. PMID: 41126576
The most common inborn error in immunity (IEI) associated with nocardiosis is chronic granulomatous disease (CGD). This case series highlights five cases of nocardiosis with a diagnosis of IEI other than CGD. ...
The most common inborn error in immunity (IEI) associated with nocardiosis is chronic granulomatous disease (CGD). This …
Recurrent Transfusions and Severe Infections: Unmasking Hatipoglu Immunodeficiency Syndrome: Case Report and Review of Literature.
Singh S, Garg A, Mandal P. Singh S, et al. J Pediatr Hematol Oncol. 2025 Nov 1;47(8):390-391. doi: 10.1097/MPH.0000000000003135. Epub 2025 Oct 8. J Pediatr Hematol Oncol. 2025. PMID: 41082409
Immunodeficiency workup showed positive Dihydrorhodamine test suggestive of chronic granulomatous disease and whole exome sequencing displayed DPP9 mutation in both the twins....
Immunodeficiency workup showed positive Dihydrorhodamine test suggestive of chronic granulomatous disease and whole exo …
Antisense phosphorodiamidate morpholino oligomers retain activity in Burkholderia cepacia complex biofilm.
Mendez AR, Pybus C, Greenberg DE. Mendez AR, et al. Front Microbiol. 2025 Sep 23;16:1660799. doi: 10.3389/fmicb.2025.1660799. eCollection 2025. Front Microbiol. 2025. PMID: 41064251 Free PMC article.
BACKGROUND: Members of the Burkholderia cepacia complex (Bcc) are known to cause severe pulmonary infections in immunocompromised hosts, namely individuals with cystic fibrosis (CF) and chronic granulomatous disease (CGD). Due to innate antibiotic-resistant p …
BACKGROUND: Members of the Burkholderia cepacia complex (Bcc) are known to cause severe pulmonary infections in immunocompromised hosts, nam …
Umbilical Cord Blood Transplantation Provides an Alternative for Patients With Chronic Granulomatous Disease Lacking HLA-Matched Donors: A PIDTC Report.
Arnold DE, Leiding JW, Logan B, Marsh RA, Griffith LM, Grunebaum E, Murguía-Favela L, Mallhi K, Chellapandian D, Deal CL, Lim SS, Prasad V, Heimall J, Chandrakasan S, Chen K, Yu LC, Seroogy CM, Gillio A, Bednarski JJ, Kapoor N, Moore TB, Cuvelier GDE, Touzot F, Rayes A, Ebens CL, Schaefer E, Bauchat A, Chopek A, Burroughs L, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson T, Malech HL, Kang EM, Parikh S. Arnold DE, et al. Transplant Cell Ther. 2026 Jan;32(1):89.e1-89.e10. doi: 10.1016/j.jtct.2025.05.020. Epub 2025 Oct 2. Transplant Cell Ther. 2026. PMID: 41046057
BACKGROUND: Allogeneic hematopoietic cell transplantation corrects the phagocytic defect in patients with chronic granulomatous disease (CGD) and resolves infection risk and immune dysregulation. ...
BACKGROUND: Allogeneic hematopoietic cell transplantation corrects the phagocytic defect in patients with chronic granulomatous …
Prime Editing: The Next Frontier in Precision Gene Therapy.
Aliciaslan M, Erbasan E, Erendor F, Sanlioglu S. Aliciaslan M, et al. J Gene Med. 2025 Oct;27(10):e70040. doi: 10.1002/jgm.70040. J Gene Med. 2025. PMID: 41038616 Review.
This agent employs an ex vivo strategy, correcting the NCF1 gene in patient-derived hematopoietic stem cells for the treatment of chronic granulomatous disease. Despite considerable progress, unlocking the complete therapeutic promise of PE requires overcomin …
This agent employs an ex vivo strategy, correcting the NCF1 gene in patient-derived hematopoietic stem cells for the treatment of chronic …
Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.
Liao YX, Xia L, Liu P, Li XH, Liu LP, Xu L, Tian D, Shi DL, Guo XM, Mei X, Okada S, Liu YB, Wang FF, Wang XC, Zhao C, Fan XH, Sun JQ, Liu TF, Ling Y. Liao YX, et al. J Clin Immunol. 2025 Sep 30;45(1):131. doi: 10.1007/s10875-025-01926-7. J Clin Immunol. 2025. PMID: 41026270 Free PMC article.
BACKGROUND: The CYBB gene encodes the gp91-phox protein, a critical component of the NADPH oxidase complex involved in pathogen clearance. Mutations in CYBB are associated with chronic granulomatous disease (CGD), leading to recurrent bacterial infections. OB …
BACKGROUND: The CYBB gene encodes the gp91-phox protein, a critical component of the NADPH oxidase complex involved in pathogen clearance. M …
Thrombocytopenia in patients with inborn errors of immunity.
Fekrvand S, Mohtashami M, Sanadgol N, Salehi H, Fard NNG, Afkham EK, Chavoshzadeh Z, Parvaneh N, Mahdaviani SA, Sharafian S, Barzamini S, Ahanchian H, Kalantari A, Shafiei A, Tavakol M, Abolnezhadian F, Rad MK, Hassanpour G, Cheraghi T, Farid AS, Delavari S, Abolhassani H, Rezaei N, Yazdani R. Fekrvand S, et al. BMC Immunol. 2025 Sep 29;26(1):74. doi: 10.1186/s12865-025-00761-0. BMC Immunol. 2025. PMID: 41023781 Free PMC article.
METHODS: In the present study, we assessed frequency of thrombocytopenia in the most common IEI including combined immunodeficiency (CID), common variable immunodeficiency (CVID), selective immunoglobulin A deficiency (SIgAD), agammaglobulinemia (AGA), hyper immunoglobulin M (HIG …
METHODS: In the present study, we assessed frequency of thrombocytopenia in the most common IEI including combined immunodeficiency (CID), c …
Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis.
Fekrvand S, Esfahani ZH, Yarahmadi M, Saeedi-Boroujeni A, Salehi H, Hakimelahi A, Almasi-Hashiani A, Rahmati M, Afshar-Ghasemlou S, Fard NNG, Monfared FT, Afkham EK, Fathi N, Shad TM, Babaha F, Nazari F, Nirouei M, Farid AS, Sanadgol N, Rafiemanesh H, Marzbali MY, Hassanpour G, Olbrich P, Condino-Neto A, Morio T, Gennery AR, Meyts I, Ochs HD, Abolhassani H, Rezaei N, Yazdani R. Fekrvand S, et al. Mutat Res Rev Mutat Res. 2025 Jul-Dec;796:108564. doi: 10.1016/j.mrrev.2025.108564. Epub 2025 Sep 27. Mutat Res Rev Mutat Res. 2025. PMID: 41016093
This represents an approximately 27-fold higher mortality rate among IEI patients compared to the mean global mortality rate (24 % vs. 0.874 %). Severe combined immunodeficiency, chronic granulomatous disease, and ataxia-telangiectasia had the highest numbers …
This represents an approximately 27-fold higher mortality rate among IEI patients compared to the mean global mortality rate (24 % vs. 0.874 …
A 10-year-old Girl with an 8-Month History of Progressive Photophobia and Hemeralopia.
Kong MD, Oh JK, Bailey JA, Exinor A, Piamjitchol C, Heaps N, Tsang SH. Kong MD, et al. Retin Cases Brief Rep. 2025 Sep 23. doi: 10.1097/ICB.0000000000001818. Online ahead of print. Retin Cases Brief Rep. 2025. PMID: 40986840
PURPOSE: To report a case of nonparaneoplastic autoimmune retinopathy in a 10-year-old female with chronic granulomatous disease (CGD) due to compound heterozygous mutations in NCF1. METHODS: The patient was evaluated at Columbia University Irving Medical Cen …
PURPOSE: To report a case of nonparaneoplastic autoimmune retinopathy in a 10-year-old female with chronic granulomatous di …
Is it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity?
Bellanti JA. Bellanti JA. Allergy Asthma Proc. 2025 Sep 1;46(5):354-361. doi: 10.2500/aap.2025.46.250049. Allergy Asthma Proc. 2025. PMID: 40958180 Free PMC article. Review.
These include severe combined immunodeficiency, common variable immunodeficiency, chronic granulomatous disease, X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, and the activated PI3K delta syndrome. ...
These include severe combined immunodeficiency, common variable immunodeficiency, chronic granulomatous disease, X-link …
Reliable genetic diagnosis of NCF1 (p47(phox))-deficient chronic granulomatous disease using high-throughput sequencing.
Hsu AP, Karlins E, Lack J, Pepper TJ, Lau K, Marshall-Batty KR, Long Priel D, Davis J, Fink DL, Zerbe CS, Gallin JI, Malech HL, Holland SM, Kuhns DB. Hsu AP, et al. Front Immunol. 2025 Aug 18;16:1640496. doi: 10.3389/fimmu.2025.1640496. eCollection 2025. Front Immunol. 2025. PMID: 40934010 Free PMC article.
INTRODUCTION: Chronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH oxidase complex including gp91(phox), p47(phox), p22(phox), p40(phox), p67(phox), or EROS. ...
INTRODUCTION: Chronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH o …
Unmasking chronic granulomatous disease: A routine diagnostic workup in a Brazilian children's hospital.
Melo KM, Dias ACS, Mendonça RP, Valente CFC, Tavares FS, Júnior ACMS, Bomfim LM, Martins JSR, Camargo R. Melo KM, et al. Allergol Immunopathol (Madr). 2025 Sep 1;53(5):87-93. doi: 10.15586/aei.v53i5.1338. eCollection 2025. Allergol Immunopathol (Madr). 2025. PMID: 40923424
The diagnosis of chronic granulomatous disease (CGD), a congenital immunodeficiency affecting phagocyte function, remains a challenge for patients in Latin America. ...
The diagnosis of chronic granulomatous disease (CGD), a congenital immunodeficiency affecting phagocyte function, remai …
Clinical, biochemical, and genetic characterization of Lebanese patients with chronic granulomatous disease due to NCF2 pathogenic variants.
El-Orfali Y, Mardirossian H, Al-Kalamouni H, El-Zein Z, Dalle S, Khreis D, Haddara A, Hanna-Wakim R, Dbaibo G, Massaad MJ. El-Orfali Y, et al. Clin Immunol. 2025 Sep 5:110596. doi: 10.1016/j.clim.2025.110596. Online ahead of print. Clin Immunol. 2025. PMID: 40915337
Chronic Granulomatous Disease (CGD) is caused by mutations in the NADPH oxidase complex that impair the ability of phagocytes to eliminate injested pathogens. ...
Chronic Granulomatous Disease (CGD) is caused by mutations in the NADPH oxidase complex that impair the ability of phag …
The Nox2 NADPH oxidase regulates neutrophilic inflammation in the oral cavity.
Jin S, Singhal R, Luo J, Cooper KN, Terekhova M, Carey KA, Artyomov MN, Jala VR, Idol RA, Dinauer MC, Lamont RJ, Bagaitkar J. Jin S, et al. bioRxiv [Preprint]. 2025 Aug 28:2025.08.26.671820. doi: 10.1101/2025.08.26.671820. bioRxiv. 2025. PMID: 40909750 Free PMC article. Preprint.
The leukocyte NADPH oxidase 2 (NOX2) is an important regulator of inflammatory responses, independent of its antimicrobial activity. Inactivating mutations in NOX2 cause chronic granulomatous disease (CGD), a severe immunodeficiency associated with recurrent …
The leukocyte NADPH oxidase 2 (NOX2) is an important regulator of inflammatory responses, independent of its antimicrobial activity. Inactiv …
Importance of BCG Vaccination at birth in Pediatric Patients with Chronic Granulomatous Disease after Hematopoietic Stem Cell Transplantation in Developing Countries.
Hamidieh AA, Behfar M, Nejati N, Azar SS, Salmanifard Ardestani MT, Malik R, Kashani H, Mohseni R, Jafari L. Hamidieh AA, et al. Immunol Lett. 2026 Feb;277:107083. doi: 10.1016/j.imlet.2025.107083. Epub 2025 Sep 1. Immunol Lett. 2026. PMID: 40902675
While several studies have investigated the efficacy of vaccines in Chronic Granulomatous Disease (CGD) patients, the specific impact of vaccination on HSCT outcomes in these patients has not yet been studied. ...
While several studies have investigated the efficacy of vaccines in Chronic Granulomatous Disease (CGD) patients, the s …
Renal Malacoplakia Following Obstetric Intervention: A Rare Cause of Acute Kidney Injury in a Young Woman.
Ito LM, Oguma JM, Miyahara AK, da Veiga MAS, Favaro L, de Godoy DW, da Silva BAB, Moura LA, Durão MS, Rangel ÉB. Ito LM, et al. Clin Pract. 2025 Aug 3;15(8):143. doi: 10.3390/clinpract15080143. Clin Pract. 2025. PMID: 40863094 Free PMC article.
Introduction: Renal malacoplakia is a rare chronic granulomatous disease, often associated with immunosuppression and persistent Gram-negative infections, particularly Escherichia coli. ...
Introduction: Renal malacoplakia is a rare chronic granulomatous disease, often associated with immunosuppression and p …
A curious case of hypercalcemic crisis in sarcoidosis: The missing link beyond 1,25(OH)2D.
Qadir A, Misgar RA, Chhabra A, Sofi JA. Qadir A, et al. J Family Med Prim Care. 2025 Jul;14(7):3028-3031. doi: 10.4103/jfmpc.jfmpc_203_25. Epub 2025 Jul 21. J Family Med Prim Care. 2025. PMID: 40814531 Free PMC article.
Sarcoidosis is a chronic granulomatous disease affecting various organs and is one of the causes of parathyroid hormone (PTH)-independent hypercalcemia. ...
Sarcoidosis is a chronic granulomatous disease affecting various organs and is one of the causes of parathyroid hormone …
Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.
Wolff JH, Skov TW, Haslund D, Dorset SR, Revenfeld ALS, Aussel C, Jørgensen SE, Holm M, Thomsen MK, Ammann S, Cathomen T, Mogensen TH, Møller BK, Bak RO, Mikkelsen JG. Wolff JH, et al. Nat Commun. 2025 Aug 12;16(1):7475. doi: 10.1038/s41467-025-62738-2. Nat Commun. 2025. PMID: 40796771 Free PMC article.
Chronic granulomatous disease (CGD) is a severe inborn error of immunity caused by NADPH oxidase defects. ...
Chronic granulomatous disease (CGD) is a severe inborn error of immunity caused by NADPH oxidase defects. ...
Hereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence.
Srinivas K, Tyagi V, Mahajan A, Mantan M. Srinivas K, et al. CEN Case Rep. 2025 Dec;14(6):809-813. doi: 10.1007/s13730-025-01025-x. Epub 2025 Aug 12. CEN Case Rep. 2025. PMID: 40796712 Free PMC article.
Mutations in the gene can result in hereditary dRTA, red blood cell membrane defect, and hemolytic anemia. Chronic granulomatous disease (CGD) is a rare primary immunodeficiency syndrome caused by NADPH oxidase deficiency, leading to impaired neutrophil and p …
Mutations in the gene can result in hereditary dRTA, red blood cell membrane defect, and hemolytic anemia. Chronic granulomatous …
mTORC1-Dependent Regulation of the CCL24-CCR3 Axis Controls Granuloma Formation and Maintenance in Sarcoidosis.
Rao X, Liu J, Allison DB, Harrison DA, Fong KW, Wu Y, He D, Peng J, Li Z, Wang C, Sturgill JL, Sen P, Liu X. Rao X, et al. bioRxiv [Preprint]. 2025 Jul 16:2025.07.11.664317. doi: 10.1101/2025.07.11.664317. bioRxiv. 2025. PMID: 40791394 Free PMC article. Preprint.
Sarcoidosis is a chronic granulomatous disease marked by persistent inflammation and immune cell aggregation, yet its molecular underpinnings remain incompletely understood, hindering the development of effective targeted therapies. ...
Sarcoidosis is a chronic granulomatous disease marked by persistent inflammation and immune cell aggregation, yet its m …
Isolated Nasolacrimal Duct Rhinosporidiosis - A Rare Presentation of this Enigmatic Disease.
Patel R, Marfatia H, Gaikwad A. Patel R, et al. Indian J Otolaryngol Head Neck Surg. 2025 Aug;77(8):3154-3157. doi: 10.1007/s12070-025-05591-5. Epub 2025 Jun 3. Indian J Otolaryngol Head Neck Surg. 2025. PMID: 40727188
Isolated nasolacrimal duct rhinosporidiosis is a rare manifestation of this chronic granulomatous disease. This reports the first known case in Mumbai, highlighting the need to consider rhinosporidiosis in differential diagnosis of intermittently presenting n …
Isolated nasolacrimal duct rhinosporidiosis is a rare manifestation of this chronic granulomatous disease. This reports …
Longitudinal Meta-cohort study protocol using systems biology to identify vaccine safety biomarkers.
Diray-Arce J, Chang AC, Moradipoor S, Amodio D, Carleton B, Chang WC, Crawford NW, Karoly M, Hoch A, McEnaney K, Kafil TS, Donthireddy M, Steltz SK, van Haren SD, Angelidou A, Smolen KK, Steen H, Lasky-Su J, Tran H, Liu P, Creech CB, Cutland CL, Petousis-Harris H, Nazy I, Yeung RSM, Kochhar S, Black S, Wood N, Nordenberg D, Palma P, Ovsyannikova IG, Kennedy RB, Poland GA, Ozonoff A, Chen RT, Levy O, Top KA; International Network of Special Immunization Services (INSIS) Members. Diray-Arce J, et al. Vaccine. 2025 Aug 30;62:127504. doi: 10.1016/j.vaccine.2025.127504. Epub 2025 Jul 26. Vaccine. 2025. PMID: 40716144 Free article.
Necrotizing ulcerative stomatitis following bone marrow transplantation in a patient with chronic granulomatous disease: Case report.
Alabdulaaly L, Lucas C, Prockop S, Schmidt B, Treister N, Sroussi H. Alabdulaaly L, et al. Clin Adv Periodontics. 2025 Jul 28. doi: 10.1002/cap.10363. Online ahead of print. Clin Adv Periodontics. 2025. PMID: 40719681
BACKGROUND: Chronic granulomatous disease (CGD) is an inborn error of immunity characterized by life-threatening infections and inflammation. ...Our report demonstrates that NS/NPD may occur in post-alloHSCT setting. KEY POINTS: Chronic granulomatou …
BACKGROUND: Chronic granulomatous disease (CGD) is an inborn error of immunity characterized by life-threatening infect …
Liver Abscess: Think Outside the Box.
Charisi K, Terzaki M, Bangeas A, Taparkou A, Papadimitriou E, Karypidou E, Kouroupis D, SidiropouIou MS, Pyrpasopoulou A, Roilides E, Farmaki E. Charisi K, et al. Cureus. 2025 Jun 25;17(6):e86755. doi: 10.7759/cureus.86755. eCollection 2025 Jun. Cureus. 2025. PMID: 40718299 Free PMC article.
Liver abscesses are a relatively common pathology, especially in adults, and are usually secondary to intrabdominal infections. In patients with chronic granulomatous disease (CGD), a rare primary immune deficiency, they may represent the main or even first m …
Liver abscesses are a relatively common pathology, especially in adults, and are usually secondary to intrabdominal infections. In patients …
Rheumatologic manifestations in an X-Linked chronic granulomatous disease carrier.
Hudson KQ, Barker CS, Oates JC, Williams KW. Hudson KQ, et al. Am J Med Sci. 2025 Oct;370(4):400-404. doi: 10.1016/j.amjms.2025.07.012. Epub 2025 Jul 23. Am J Med Sci. 2025. PMID: 40712698 Review.
Chronic granulomatous disease (CGD) is a rare immunologic disorder caused by a defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex which consequentially causes immunodeficiency due to an inability to clear some bacteria and fungi. As …
Chronic granulomatous disease (CGD) is a rare immunologic disorder caused by a defective nicotinamide adenine dinucleot …
Hyper-IgE syndrome: A rare case report.
Smith L, Rafei A, Caminada S, Barakat S, Abd Elwahab SM, Pizzol D, Abdo AE. Smith L, et al. J Allergy Clin Immunol Glob. 2025 Jun 24;4(3):100525. doi: 10.1016/j.jacig.2025.100525. eCollection 2025 Aug. J Allergy Clin Immunol Glob. 2025. PMID: 40697947 Free PMC article.
Due to the rarity of the syndrome and its nonspecific and wide presentation, the diagnosis is difficult and arises with other diagnoses including other types of primitive chronic granulomatous disease or acquired immunodeficiency, severe atopic dermatitis, or …
Due to the rarity of the syndrome and its nonspecific and wide presentation, the diagnosis is difficult and arises with other diagnoses incl …
Interferon gamma rebalances immunopathological signatures in chronic granulomatous disease through metabolic rewiring.
Bruno M, Kröger C, Ferreira AV, Zhang B, Röring RJ, Liu R, van der Made CI, van Rhijn N, Groh L, Klück V, Janssen NAF, Li W, Rosati D, Alaswad A, Tercan H, Saiz J, Gonzalez-Riano C, van Uelft M, Gaal OI, Müller S, Ferreira HJ, Warnat-Herresthal S, Becker M, Holsten L, Kraut M, Schulte-Schrepping J, Bonaguro L, Händler K, Cunha C, Schmolz M, Schultze JL, Joosten LAB, Barbas C, Netea MG, Li Y, Aschenbrenner AC, Carvalho A, van de Veerdonk FL. Bruno M, et al. Blood Adv. 2025 Oct 28;9(20):5306-5322. doi: 10.1182/bloodadvances.2025016213. Blood Adv. 2025. PMID: 40674716 Free PMC article.
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent life-threatening infections and hyperinflammatory complications. ...
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent life-threatening infection …
Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Turkiye.
Ergenc Z, Eltan SB, Karaaslan BG, Kiykim A, Tuncay SA, Yilmaz S, Erdemli PC, Dizi Isik A, Parlak B, Serbes M, Warris A, Ozen A, Karakoc-Aydiner E, Ozcan D, Cokugras H, Baris S, Kepenekli E. Ergenc Z, et al. Mycoses. 2025 Jul;68(7):e70086. doi: 10.1111/myc.70086. Mycoses. 2025. PMID: 40607896 Free PMC article.
BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency, predisposing to life-threatening invasive mould infection (IMI). ...
BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency, predisposing to life-threatening in …
Dysregulated Pro-inflammatory and Anti-inflammatory Cytokine Responses to Microbe-associated Molecular Patterns in X-linked Chronic Granulomatous Disease.
Omaru N, Watanabe T, Hara A, Kurimoto M, Masuta Y, Otsuka Y, Masaki S, Minaga K, Kamata K, Honjo H, Arai Y, Yamashita K, Kudo M. Omaru N, et al. In Vivo. 2025 Jul-Aug;39(4):1902-1911. doi: 10.21873/invivo.13989. In Vivo. 2025. PMID: 40578979 Free PMC article.
BACKGROUND/AIM: Chronic granulomatous disease (CGD) is a hereditary immune deficiency caused by mutations in nicotinamide adenine dinucleotide phosphate oxidase subunits. ...
BACKGROUND/AIM: Chronic granulomatous disease (CGD) is a hereditary immune deficiency caused by mutations in nicotinami …
Malakoplakia in kidney transplant recipients: Three case reports.
Simhadri PK, Contractor R, Chandramohan D, McGee M, Nangia U, Atari M, Bushra S, Kapoor S, Velagapudi RK, Vaitla PK. Simhadri PK, et al. World J Nephrol. 2025 Jun 25;14(2):100530. doi: 10.5527/wjn.v14.i2.100530. World J Nephrol. 2025. PMID: 40568336 Free PMC article.
BACKGROUND: Malakoplakia is a rare chronic granulomatous disease associated with gram-negative infection, predominantly by Escherichia coli. ...
BACKGROUND: Malakoplakia is a rare chronic granulomatous disease associated with gram-negative infection, predominantly …
Characterizing neonatal community-acquired invasive fungal infections: Clinical profiles, pathogens, and underlying conditions.
Gao C, Wang L, Zeng L, Tao X. Gao C, et al. Medicine (Baltimore). 2025 Jun 20;104(25):e42921. doi: 10.1097/MD.0000000000042921. Medicine (Baltimore). 2025. PMID: 40550072 Free PMC article.
Key findings included: Patients had nonspecific respiratory symptoms, such as cough, tachypnea, and fever; the auxiliary examination showed positive beta-D-glucan (cases 1, 4, 5) and galactomannan test (cases 2, 3, 4), and all cases had elevated CD4+/CD8 + ratio; multifocal conso …
Key findings included: Patients had nonspecific respiratory symptoms, such as cough, tachypnea, and fever; the auxiliary examination showed …
The value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.
Xiaohui W, Shunying Z, Xiaoyan Z, Xiaolei T, Yuelin S, Jinrong L, Huimin L, Hui L, Haiming Y. Xiaohui W, et al. Front Pediatr. 2025 Jun 5;13:1483173. doi: 10.3389/fped.2025.1483173. eCollection 2025. Front Pediatr. 2025. PMID: 40538929 Free PMC article.
BACKGROUND: A rapid, easy, and accurate method for screening Chronic Granulomatous Disease (CGD) is crucial. This study aimed to propose and evaluate the effectiveness of the DHR-Enzyme-linked immunosorbent assay (DHR-ELISA) for assessing NADPH oxidase comple …
BACKGROUND: A rapid, easy, and accurate method for screening Chronic Granulomatous Disease (CGD) is crucial. This study …
Primary Gastrointestinal Iatrogenic Kaposi Sarcoma: A Rare Pediatric Case Report.
Urganci N, Onenerk Men AM, Kepil N, Ozcan R, Comunoglu N. Urganci N, et al. Pediatr Dev Pathol. 2025 Sep-Oct;28(5):425-428. doi: 10.1177/10935266251345690. Epub 2025 Jun 14. Pediatr Dev Pathol. 2025. PMID: 40515487
We describe a 16-year-old HIV-negative male with chronic granulomatous disease (CGD) who initially presented with inflammatory bowel disease-like symptoms and was treated with immunosuppressive therapy. ...
We describe a 16-year-old HIV-negative male with chronic granulomatous disease (CGD) who initially presented with infla …
Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.
Chen H, Yang X, Huang Y, Jiao F, Bai H, Zhu Y, Cui P, Jin H, Guo Y, Wang Y, Luo Y. Chen H, et al. Front Cell Infect Microbiol. 2025 May 21;15:1570382. doi: 10.3389/fcimb.2025.1570382. eCollection 2025. Front Cell Infect Microbiol. 2025. PMID: 40470261 Free PMC article.
Sixteen cases (45.7%) were confirmed to have PID, including SCID (7 cases, 20.0%), chronic granulomatous disease (6 cases, 17.1%), Mendelian susceptibility to mycobacterial disease (2 cases, 5.7%), and fas associated via death domain (FADD) gene mutation (1 c …
Sixteen cases (45.7%) were confirmed to have PID, including SCID (7 cases, 20.0%), chronic granulomatous disease (6 cas …
Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.
Demirtas Guner D, Bildik HN, Demir H, Cagdas D, Saltik Temizel IN, Ozgul RK, Hizarcioglu Gulsen H, Tan C, Cicek B, Ozen H, Yuce A, Tezcan I. Demirtas Guner D, et al. Children (Basel). 2025 Apr 23;12(5):536. doi: 10.3390/children12050536. Children (Basel). 2025. PMID: 40426715 Free PMC article.
Monogenic IBD was identified in 36.2% (n = 17) of patients, including nine with Familial Mediterranean Fever and others with glycogen storage disease type 1b (n = 2), XIAP deficiency, chronic granulomatous disease, DOCK8 deficiency, IL10 receptor alpha defect …
Monogenic IBD was identified in 36.2% (n = 17) of patients, including nine with Familial Mediterranean Fever and others with glycogen storag …
Clinical manifestations of 42 Moroccan patients with chronic granulomatous disease.
Dably A, Benhssaein I, El Bakkouri J, Drissi Bourhanbour A, Jeddane L, Aziz Bousfiha A, Ailal F. Dably A, et al. Qatar Med J. 2025 Mar 21;2025(1):14. doi: 10.5339/qmj.2025.14. eCollection 2025. Qatar Med J. 2025. PMID: 40401231 Free PMC article.
BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to alterations in the oxidative metabolism of phagocytic cells. ...
BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to alterations in the oxidative metab …
Bridging to Transplant: TDM-guided Outpatient Dalbavancin Therapy in Chronic Granulomatous Disease With Deep-seeded Inoperable Abscesses Over 11 Months.
Banz M, Hagel S, Sörgel F, Kinzig M, Farker K, Pletz MW, Kentouche K. Banz M, et al. Open Forum Infect Dis. 2025 Apr 30;12(5):ofaf260. doi: 10.1093/ofid/ofaf260. eCollection 2025 May. Open Forum Infect Dis. 2025. PMID: 40395459 Free PMC article.
Therapeutic drug monitoring facilitated the successful outpatient use of low-dosage dalbavancin for treating inoperable staphylococcal abscesses in a patient with chronic granulomatous disease. This approach minimized adverse effects and allowed for effective …
Therapeutic drug monitoring facilitated the successful outpatient use of low-dosage dalbavancin for treating inoperable staphylococcal absce …
Skin Manifestations in Adults With Chronic Granulomatous Disease in the United Kingdom.
Campos LC, Henríquez CA, Meligonis G, Tadros S, Lowe DM, Grimbacher B, Burns SO, Orteu CH. Campos LC, et al. J Allergy Clin Immunol Pract. 2025 Aug;13(8):2151-2161.e7. doi: 10.1016/j.jaip.2025.04.058. Epub 2025 May 16. J Allergy Clin Immunol Pract. 2025. PMID: 40383433 Free article.
BACKGROUND: Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by mutations affecting individual components of the nicotinamide adenine dinucleotide phosphate oxidase complex. ...
BACKGROUND: Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by mutations affecting indivi …
Chronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.
Mortimer PM, Svetitsky S, Thomas DC. Mortimer PM, et al. Clin Exp Immunol. 2025 Jan 21;219(1):uxaf031. doi: 10.1093/cei/uxaf031. Clin Exp Immunol. 2025. PMID: 40371966 Free PMC article. Review.
The importance of the system in host defence and immunoregulation is underlined by chronic granulomatous disease (CGD), a severe monogenic immunodeficiency caused by mutations in genes encoding individual components of NOX2. ...
The importance of the system in host defence and immunoregulation is underlined by chronic granulomatous disease (CGD), …
Evaluation of the Etiology of Granulomatous Lymphadenopathy in Children Admitted to a Tertiary Pediatric Infectious Clinic.
Cetin FT, Çay Ü, Gündeslioğlu ÖÖ, Alabaz D, Totik N, Uğuz AH. Cetin FT, et al. Turk Arch Pediatr. 2025 May 2;60(3):307-313. doi: 10.5152/TurkArchPediatr.2025.24316. Turk Arch Pediatr. 2025. PMID: 40353679 Free PMC article.
Less common were toxoplasmosis, aspergil- lus, and cat scratches. Among non-infectious causes, chronic granulomatous disease should be kept in mind....
Less common were toxoplasmosis, aspergil- lus, and cat scratches. Among non-infectious causes, chronic granulomatous diseas …
Conjunctival Rhinosporidosis Mimicking Papilloma in an Ethiopian Child: A Rare Case Report.
Wubalem SM, Diro SB. Wubalem SM, et al. Clin Case Rep. 2025 May 5;13(5):e70439. doi: 10.1002/ccr3.70439. eCollection 2025 May. Clin Case Rep. 2025. PMID: 40330256 Free PMC article.
Rhinosporidiosis is a chronic granulomatous disease caused by Rhinosporidium seeberi, mainly affecting the nose and nasopharynx. ...
Rhinosporidiosis is a chronic granulomatous disease caused by Rhinosporidium seeberi, mainly affecting the nose and nas …
De novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease.
Singh AK, Ainciburu M, Wynne K, Bhat SA, Blanco A, Tzani I, Akiba Y, Lalor SJ, Kaunitz J, Bourke B, Kelly VP, Doherty GA, Zerbe CS, Clarke C, Hussey S, Knaus UG. Singh AK, et al. Proc Natl Acad Sci U S A. 2025 May 13;122(19):e2421747122. doi: 10.1073/pnas.2421747122. Epub 2025 May 6. Proc Natl Acad Sci U S A. 2025. PMID: 40327691 Free PMC article.
Here, we demonstrate that neutrophils recruited in murine colitis and infection models, idiopathic IBD, and chronic granulomatous disease-associated IBD undergo extensive transcriptional reprogramming, resulting in the emergence of neutrophil populations that …
Here, we demonstrate that neutrophils recruited in murine colitis and infection models, idiopathic IBD, and chronic granulomatous …
Incidence of nasal rhinosporidiosis in the UK.
Delim H, Dewhurst S, Edwards SJ. Delim H, et al. BMJ Case Rep. 2025 May 5;18(5):e259034. doi: 10.1136/bcr-2023-259034. BMJ Case Rep. 2025. PMID: 40324933
Rhinosporidiosis is a chronic granulomatous disease mainly affecting the nasal cavity and nasopharynx. It is an endemic disease in South India. ...
Rhinosporidiosis is a chronic granulomatous disease mainly affecting the nasal cavity and nasopharynx. It is an endemic …
Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy.
Nihira H, Nakajima D, Izawa K, Kawashima Y, Shibata H, Konno R, Higashiguchi M, Miyamoto T, Nishitani-Isa M, Hiejima E, Honda Y, Matsubayashi T, Ishihara T, Yashiro M, Iwata N, Ohwada Y, Tomotaki S, Kawai M, Murakami K, Ohnishi H, Ishimura M, Okada S, Yamashita M, Morio T, Hoshino A, Kanegane H, Imai K, Nakamura Y, Nonoyama S, Uchiyama T, Onodera M, Ishikawa T, Kawai T, Takita J, Nishikomori R, Ohara O, Yasumi T. Nihira H, et al. J Allergy Clin Immunol. 2025 Aug;156(2):473-479.e1. doi: 10.1016/j.jaci.2025.04.025. Epub 2025 May 2. J Allergy Clin Immunol. 2025. PMID: 40319946 Free article.
We defined the sum of the z scores for these as the DBS-interferon signature, and found that patients with IEIs other than type I interferonopathy, such as chronic granulomatous disease (CGD), also showed significant elevation. Additionally, neonatal samples …
We defined the sum of the z scores for these as the DBS-interferon signature, and found that patients with IEIs other than type I interferon …
Non-Infectious Complications of Chronic Granulomatous Disease: Knowledge Gaps & Novel Treatment Considerations.
McKinney C, Ambruso D. McKinney C, et al. Immunol Allergy Clin North Am. 2025 May;45(2):287-298. doi: 10.1016/j.iac.2025.01.004. Epub 2025 Mar 11. Immunol Allergy Clin North Am. 2025. PMID: 40287173 Review.
Chronic granulomatous disease (CGD) is a rare primary phagocytic immunodeficiency characterized by recurrent infections due to impaired NADPH oxidase activity. ...
Chronic granulomatous disease (CGD) is a rare primary phagocytic immunodeficiency characterized by recurrent infections …
Invasive Fungal Infection by Scedosporium apiospermum with Cerebral Involvement in a Pediatric Patient Affected by Chronic Granulomatous Disease After Hematopoietic Cell Transplant.
Garonzi C, Chinello M, Caddeo G, Bonetti E, Esposto MP, Pezzella V, Vitale V, Zaccaron A, Sorrentino A, Gibellini D, Cesaro S. Garonzi C, et al. J Fungi (Basel). 2025 Apr 1;11(4):270. doi: 10.3390/jof11040270. J Fungi (Basel). 2025. PMID: 40278093 Free PMC article.
A 5-year-old boy affected by chronic granulomatous disease (CGD) underwent two allogeneic hematopoietic cell transplants (HCT) from the same unrelated donor. ...
A 5-year-old boy affected by chronic granulomatous disease (CGD) underwent two allogeneic hematopoietic cell transplant …
Single-cell and spatial transcriptomics reveal the pathogenesis of chronic granulomatous disease in a natural model.
Yu H, Zhang G, Ma Y, Ma T, Wang S, Ding J, Liu J, Zhao Z, Zhou Z, Jiao S, Dong G, Cai Z. Yu H, et al. Cell Rep. 2025 May 27;44(5):115612. doi: 10.1016/j.celrep.2025.115612. Epub 2025 Apr 22. Cell Rep. 2025. PMID: 40272982 Free article.
Genetic defects in NADPH oxidase 2 (NOX2) cause chronic granulomatous disease (CGD), which is characterized by increased susceptibility to infections and excessive inflammation leading to granuloma formation. ...
Genetic defects in NADPH oxidase 2 (NOX2) cause chronic granulomatous disease (CGD), which is characterized by increase …
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