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Hyper-IgM Syndrome.
Reigh EL. Reigh EL. Ann Allergy Asthma Immunol. 2026 Apr;136(4):387-388. doi: 10.1016/j.anai.2026.01.017. Ann Allergy Asthma Immunol. 2026. PMID: 41936419 No abstract available.
Sensitive and unbiased genome-wide profiling of base-editor-induced off-target activity using CHANGE-seq-BE.
Lazzarotto CR, Katta V, Li Y, Manquen G, Wood RK, Chyr J, Urbina E, Matsubara A, Lee G, Wu X, De Ravin SS, Tsai SQ. Lazzarotto CR, et al. Nat Biotechnol. 2026 Jan 2. doi: 10.1038/s41587-025-02948-7. Online ahead of print. Nat Biotechnol. 2026. PMID: 41482541
We further applied CHANGE-seq-BE to support genotoxicity studies in an emergency investigational new drug application for customized adenine base editor treatment for a person with CD40L-deficient X-linked hyper IgM syndrome. Our results emphasize the importa …
We further applied CHANGE-seq-BE to support genotoxicity studies in an emergency investigational new drug application for customized adenine …
Recurrent Talaromyces Marneffei Infection Revealing X-Linked Hyper IgM Syndrome in an HIV-Negative Infant: A Diagnostic and Therapeutic Challenge.
Li W, Yang S, Yuan K, Lu H, Lin T, Luo Y, Xian L, Shan H, Zhang J. Li W, et al. Infect Drug Resist. 2025 Dec 19;18:6757-6762. doi: 10.2147/IDR.S557554. eCollection 2025. Infect Drug Resist. 2025. PMID: 41451037 Free PMC article.
Additionally, whole exome sequencing identified a point mutation (c.346+1G>T) in the child's CD40LG gene, primary immunodeficiency calized to chromosome position chrX:135736590, leading to X-linked Hyper IgM Syndrome (XHIGM). The patient was managed with i …
Additionally, whole exome sequencing identified a point mutation (c.346+1G>T) in the child's CD40LG gene, primary immunodeficiency calize …
X-Linked Immunodeficiency.
Chamarthi VS, Chamarthi S. Chamarthi VS, et al. 2025 Dec 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2025 Dec 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 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 granulomatous dise …
CD40 Ligand Deficiency.
Dunn CP, de la Morena MT. Dunn CP, et al. 2007 May 31 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2007 May 31 [updated 2025 Dec 4]. 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: 20301576 Free Books & Documents. Review.
Acquired Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene.
Celis-Giraldo D, García-Villamizar DS, Parra-Amaris C, Gutiérrez-González DC, Rodríguez-Peralta D. Celis-Giraldo D, et al. Case Rep Nephrol. 2025 Sep 2;2025:6664645. doi: 10.1155/crin/6664645. eCollection 2025. Case Rep Nephrol. 2025. PMID: 40933814 Free PMC article.
Clinically, serologically, histopathological, and genetically, we confirm renal amyloidosis in the presence of X-linked hyper-IgM syndrome; in turn, we detected a new hemizygous pathogenic variant in the CD40L gene (c.345delA). ...
Clinically, serologically, histopathological, and genetically, we confirm renal amyloidosis in the presence of X-linked hyper-IgM …
Rare coexistence of X-linked hyper immunoglobulin M syndrome and polyarticular juvenile idiopathic arthritis in a Chinese child: A case report.
Li JW, Xie X, Wei XY, Zhang W. Li JW, et al. Jt Dis Relat Surg. 2025 Jun 13;36(3):751-756. doi: 10.52312/jdrs.2025.1988. Epub 2025 Jun 13. Jt Dis Relat Surg. 2025. PMID: 40784008 Free PMC article.
In July 2019, following a decline in immunoglobulin (Ig) M (IgM) levels (IgM 0.36 g/L) and recurrent infections, genetic testing was conducted, revealing a frameshift mutation in the CD40LG gene (c.621dup A, p.A208Sfs * 23), which confirmed the diagnosis of X-linked hyper …
In July 2019, following a decline in immunoglobulin (Ig) M (IgM) levels (IgM 0.36 g/L) and recurrent infections, genetic testing was conduct …
Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.
Chen W, Li X, Mai J, Tang K, Wang Y, Lu YY, Liang J, Li NJ, Qin XY, Li Y, Yao L, Qiu Y. Chen W, et al. J Transl Autoimmun. 2025 Jun 27;11:100297. doi: 10.1016/j.jtauto.2025.100297. eCollection 2025 Dec. J Transl Autoimmun. 2025. PMID: 40688464 Free PMC article. Review.
Insights on SNPs of Human Activation-Induced Cytidine Deaminase AID.
Koveshnikova EA, Kuznetsova AA. Koveshnikova EA, et al. Int J Mol Sci. 2025 Jun 25;26(13):6107. doi: 10.3390/ijms26136107. Int J Mol Sci. 2025. PMID: 40649888 Free PMC article. Review.
However, the dysregulation of AID activity can lead to oncogenic mutations and immune disorders such as hyper-IgM syndrome type 2 (HIGM2). At present the number of studies investigating the role of AID polymorphic variants in the promotion of pathology is low …
However, the dysregulation of AID activity can lead to oncogenic mutations and immune disorders such as hyper-IgM syndrome …
The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated-B Cells.
Chen Y, Sun S, Lu C, Li Y, Fang B, Tang X, Li X, Yu W, Lei Y, Sun L, Zhang M, Sun J, Liu P, Luo Y, Zhao X, Zhan J, Liu L, Liu R, Huang J, Yi Z, Yu Y, Xiao W, Ding Z, Li L, Su D, Ren F, Cao C, Wang R, Shi W, Chen J. Chen Y, et al. Exploration (Beijing). 2025 Feb 16;5(3):270015. doi: 10.1002/EXP.70015. eCollection 2025 Jun. Exploration (Beijing). 2025. PMID: 40585763 Free PMC article.
In children, hyper-IgM syndrome type 1 (HIGM1) is a type of severe antibody disorder, the pathogenesis of which remains unclear. ...
In children, hyper-IgM syndrome type 1 (HIGM1) is a type of severe antibody disorder, the pathogenesis of which remains …
Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.
Agrebi N, Mackeh R, Alsabbagh M, Elmi A, Al-Marri AA, Hubrack SZ, Purayil SC, Karim MY, Hassan A, Lo B. Agrebi N, et al. Front Immunol. 2025 Jun 2;16:1594636. doi: 10.3389/fimmu.2025.1594636. eCollection 2025. Front Immunol. 2025. PMID: 40529371 Free PMC article.
BACKGROUND: Hyper-IgM syndrome (HIGM) is a genetic immunodeficiency characterized by elevated to normal IgM levels and decreased IgG, IgA, and IgE. ...OBJECTIVE: This study aims to elucidate the clinical implications of concurrent AICDA and IKBKB homozygous v …
BACKGROUND: Hyper-IgM syndrome (HIGM) is a genetic immunodeficiency characterized by elevated to normal IgM levels and …
Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome.
Nishikawa T, Tomomasa D, Hijikata A, Kasabata H, Okamoto Y, Ochs HD, Kanegane H. Nishikawa T, et al. Front Immunol. 2025 May 5;16:1572791. doi: 10.3389/fimmu.2025.1572791. eCollection 2025. Front Immunol. 2025. PMID: 40391217 Free PMC article.
Hyper IgM syndrome (HIGM) is a rare immunodeficiency caused by impaired immunoglobulin class switching, leading to recurrent infections. ...
Hyper IgM syndrome (HIGM) is a rare immunodeficiency caused by impaired immunoglobulin class switching, leading to recu …
A novel CD40LG mutation causing X-linked hyper-IgM syndrome.
Li X, Cheng Y, Xu D, Cheng B, Xu Y, Chen Z, Tang L, Wang Y. Li X, et al. Glob Med Genet. 2024 Nov 20;12(3):100007. doi: 10.1016/j.gmg.2024.100007. eCollection 2025 Sep. Glob Med Genet. 2024. PMID: 40330326 Free PMC article.
Enhanced T-cell immunity and lower humoral responses following 5-dose SARS-CoV-2 vaccination in patients with inborn errors of immunity compared with healthy controls.
Lopes da Silva VG, Schmitz GJH, Sullivan KE, Barbate J, de Haro Azinar MI, Aranda CS, de Moraes-Pinto MI. Lopes da Silva VG, et al. Front Immunol. 2025 Mar 6;16:1538453. doi: 10.3389/fimmu.2025.1538453. eCollection 2025. Front Immunol. 2025. PMID: 40114918 Free PMC article.
Diagnoses included common variable immunodeficiency (n=25), specific antibody deficiency (n=9), ataxia-telangiectasia (n=5), X-linked agammaglobulinemia (n=4), PIK3CD-related disorders (n=4), hyper-IgM syndrome (n=4), combined immunodeficiency (n=3), and STAT …
Diagnoses included common variable immunodeficiency (n=25), specific antibody deficiency (n=9), ataxia-telangiectasia (n=5), X-linked agamma …
DNA-PK inhibition enhances gene editing efficiency in HSPCs for CRISPR-based treatment of X-linked hyper IgM syndrome.
Pugliano CM, Berger M, Ray RM, Sapkos K, Wu B, Laird A, Ye Y, Thomson D, DeGottardi MQ, Khan IF, Tatiossian K, Miles BA, Aeschimann F, Pasquier J, Kim MM, Rawlings DJ. Pugliano CM, et al. Mol Ther Methods Clin Dev. 2024 Jul 27;32(3):101297. doi: 10.1016/j.omtm.2024.101297. eCollection 2024 Sep 12. Mol Ther Methods Clin Dev. 2024. PMID: 40012884 Free PMC article.
Targeted gene editing to restore CD40L expression via homology-directed repair (HDR) in CD34(+) hematopoietic stem and progenitor cells (HSPCs) represents a potential long-term therapy for X-linked hyper IgM syndrome. However, clinical translation of HSPC edi …
Targeted gene editing to restore CD40L expression via homology-directed repair (HDR) in CD34(+) hematopoietic stem and progenitor cells (HSP …
Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.
Shoo A, Godfrey E, Mally D, Said Y, Dealmeida M, Muze K, Mkopi N. Shoo A, et al. Pan Afr Med J. 2024 Oct 11;49:33. doi: 10.11604/pamj.2024.49.33.42418. eCollection 2024. Pan Afr Med J. 2024. PMID: 39886113 Free PMC article.
After a diagnostic workup, a diagnosis of X-linked hyper IgM syndrome was established, and currently, our child is on monthly replacement of IV immunoglobulin and daily prophylactic cotrimoxazole tablets. ...
After a diagnostic workup, a diagnosis of X-linked hyper IgM syndrome was established, and currently, our child is on m …
Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.
Fernandes-Pineda M, Zea-Vera AF. Fernandes-Pineda M, et al. Biomedica. 2024 Dec 23;44(Sp. 2):10-15. doi: 10.7705/biomedica.7436. Biomedica. 2024. PMID: 39836850 Free PMC article.
We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. Whole exome sequencing was undertaken to pinpoint the underlying genetic mutation. ...
We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper- …
Longitudinal monitoring of class-switched memory-B cell proportions identifies plausible germinal center failure in patients with suspected immune disorders.
Knight V, Starich O, Dutmer CM, Abbott JK. Knight V, et al. Cytometry B Clin Cytom. 2025 May;108(3):222-233. doi: 10.1002/cyto.b.22222. Epub 2025 Jan 10. Cytometry B Clin Cytom. 2025. PMID: 39791256
The extent that this finding corresponds to a plausible germinal center failure pathophysiology in patients not diagnosed with CVID or hyper IgM syndrome is not known. We asked if patients with low CSM-B cells are more likely to demonstrate failure to produce …
The extent that this finding corresponds to a plausible germinal center failure pathophysiology in patients not diagnosed with CVID or hy …
Messages in CD40L are encrypted for residue-specific functions.
Bammigatti A, Ghosh SK, Bandyopadhyay S, Saha B. Bammigatti A, et al. Cytokine. 2025 Jan;185:156824. doi: 10.1016/j.cyto.2024.156824. Epub 2024 Nov 30. Cytokine. 2025. PMID: 39615244 Review.
The evidence for such a residue-specific message encryption first came from the CD40L mutations resulting in X-linked hyper-IgM syndrome, as the extent of effects varied with the residue mutated. The structural studies on the CD40-CD40L interaction implied di …
The evidence for such a residue-specific message encryption first came from the CD40L mutations resulting in X-linked hyper-IgM …
Mechanotransduction governs CD40 function and underlies X-linked hyper-IgM syndrome.
Choi HK, Travaglino S, Münchhalfen M, Görg R, Zhong Z, Lyu J, Reyes-Aguilar DM, Wienands J, Singh A, Zhu C. Choi HK, et al. Sci Adv. 2024 Nov 15;10(46):eadl5815. doi: 10.1126/sciadv.adl5815. Epub 2024 Nov 15. Sci Adv. 2024. PMID: 39546606 Free PMC article.
Mutations affecting CD40-CD40L interactions cause abnormal antibody responses in immunodeficiencies known as X-linked hyper-IgM syndrome (X-HIgM). Here, we study the CD40-mediated mechanotransduction in B cells, which likely occurs during their physical conta …
Mutations affecting CD40-CD40L interactions cause abnormal antibody responses in immunodeficiencies known as X-linked hyper-IgM …
Immunoglobulin class-switch recombination: Mechanism, regulation, and related diseases.
Liu JC, Zhang K, Zhang X, Guan F, Zeng H, Kubo M, Lee P, Candotti F, James LK, Camara NOS, Benlagha K, Lei JH, Forsman H, Yang L, Xiao W, Liu Z, Liu CH. Liu JC, et al. MedComm (2020). 2024 Aug 13;5(8):e662. doi: 10.1002/mco2.662. eCollection 2024 Aug. MedComm (2020). 2024. PMID: 39144468 Free PMC article. Review.
Here, we review the most recent insights on the diversification of five Ig isotypes and choose several classic diseases, including hyper-IgM syndrome, Waldenstrom macroglobulinemia, hyper-IgD syndrome, selective IgA deficiency, hyper-IgE syndrome, multiple my …
Here, we review the most recent insights on the diversification of five Ig isotypes and choose several classic diseases, including hyper …
Antibody Response Before and After the Booster Dose of Inactivated Corona Vaccine in Antibody Deficient Patients.
Movahedi M, Movahedi M, Parvaneh N, Abolhassani H, Mahdavi M, Mosavikhorshidi MS, Alizadeh F, Shokri M, Kalantari A. Movahedi M, et al. Iran J Allergy Asthma Immunol. 2024 Apr 7;23(2):158-167. doi: 10.18502/ijaai.v23i2.15322. Iran J Allergy Asthma Immunol. 2024. PMID: 38822511 Free article.
Twenty patients with common variable immunodeficiency (CVID), 7 cases with agammaglobulinemia and 3 patients with hyper IgM syndrome were studied. Anti-RBD IgG and anti-N IgG antibodies increased in all patients after the booster. ...
Twenty patients with common variable immunodeficiency (CVID), 7 cases with agammaglobulinemia and 3 patients with hyper IgM …
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.
Della Mina E, Jackson KJL, Crawford AJI, Faulks ML, Pathmanandavel K, Acquarola N, O'Sullivan M, Kerre T, Naesens L, Claes K, Goodnow CC, Haerynck F, Kracker S, Meyts I, D'Orsogna LJ, Ma CS, Tangye SG. Della Mina E, et al. J Clin Immunol. 2024 Feb 16;44(3):66. doi: 10.1007/s10875-024-01665-1. J Clin Immunol. 2024. PMID: 38363477 Free PMC article.
Deleterious variants in AICDA are causal of hyper-IgM syndrome type 2 (HIGM2), a B-cell intrinsic primary immunodeficiency characterised by recurrent infections and low serum IgG and IgA levels. ...
Deleterious variants in AICDA are causal of hyper-IgM syndrome type 2 (HIGM2), a B-cell intrinsic primary immunodeficie …
Gene regulation in inborn errors of immunity: Implications for gene therapy design and efficacy.
Ghanim HY, Porteus MH. Ghanim HY, et al. Immunol Rev. 2024 Mar;322(1):157-177. doi: 10.1111/imr.13305. Epub 2024 Jan 17. Immunol Rev. 2024. PMID: 38233996 Review.
The review uses four specific IEIs to highlight key issues in gene therapy strategies: X-linked agammaglobulinemia (XLA), X-linked chronic granulomatous disease (X-CGD), X-linked hyper IgM syndrome (XHIGM), and immune dysregulation, polyendocrinopathy, entero …
The review uses four specific IEIs to highlight key issues in gene therapy strategies: X-linked agammaglobulinemia (XLA), X-linked chronic g …
Use of Metagenomic Next-Generation Sequencing in the Identification of Pneumocystis Jiroveci Pneumonia in a Previously Healthy Infant Diagnosed With X-Linked Hyper-IgM Syndrome.
Dennis J, Massey C, Muisyo T, Moraru G, Akande M. Dennis J, et al. J Pediatr Health Care. 2024 May-Jun;38(3):420-423. doi: 10.1016/j.pedhc.2023.09.009. Epub 2023 Nov 29. J Pediatr Health Care. 2024. PMID: 38032574
Genetic workup via Invitae panel confirmed that the patient had X-linked Hyper-IgM Syndrome. Use of mNGS can help with early identification of pathogens that conventional testing does not detect, even in patients not already identified as immunocompromised... …
Genetic workup via Invitae panel confirmed that the patient had X-linked Hyper-IgM Syndrome. Use of mNGS can help with …
Intramural Duodenal Hematoma in a Case of Hyper IgM Syndrome.
Chandola S, Prabhakar P, Seth R, Jana M. Chandola S, et al. J Pediatr Hematol Oncol. 2024 Mar 1;46(2):104-105. doi: 10.1097/MPH.0000000000002773. Epub 2023 Oct 23. J Pediatr Hematol Oncol. 2024. PMID: 37867238
The development of a spontaneous duodenal hematoma lead to further evaluation of the patient and revealed X linked hyper IgM syndrome....
The development of a spontaneous duodenal hematoma lead to further evaluation of the patient and revealed X linked hyper IgM …
Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1.
Jiang L, Hu X, Lin Q, Chen R, Shen Y, Zhu Y, Xu Q, Li X. Jiang L, et al. Allergy Asthma Clin Immunol. 2023 Sep 23;19(1):86. doi: 10.1186/s13223-023-00840-0. Allergy Asthma Clin Immunol. 2023. PMID: 37742016 Free PMC article.
Recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, hyper-IgM syndrome and autoimmunity are the common symptoms of this disease. CASE PRESENTATION: Patient 1 presented with recurrent respiratory infections, hepatosplenomegaly and hyp …
Recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, hyper-IgM syndrome and autoimmunity are the …
Mechanotransduction governs CD40 function and underlies X-linked Hyper IgM syndrome.
Choi HK, Travaglino S, Münchhalfen M, Görg R, Zhong Z, Lyu J, Reyes-Aguilar DM, Wienands J, Singh A, Zhu C. Choi HK, et al. bioRxiv [Preprint]. 2023 Jul 25:2023.07.23.550231. doi: 10.1101/2023.07.23.550231. bioRxiv. 2023. Update in: Sci Adv. 2024 Nov 15;10(46):eadl5815. doi: 10.1126/sciadv.adl5815. PMID: 37546834 Free PMC article. Updated. Preprint.
Mutations in CD40L disrupt interactions with CD40, which lead to abnormal antibody responses in immune deficiencies known as X-linked Hyper IgM syndrome (X-HIgM). Assuming that physical interactions between highly mobile T and B cells generate mechanical forc …
Mutations in CD40L disrupt interactions with CD40, which lead to abnormal antibody responses in immune deficiencies known as X-linked Hyp …
Assessment of Enterovirus Excretion and Identification of VDPVs in Patients with Primary Immunodeficiency in India: Outcome of ICMR-WHO Collaborative Study Phase-I.
Mohanty MC, Desai M, Mohammad A, Aggarwal A, Govindaraj G, Bhattad S, Lashkari HP, Rajasekhar L, Verma H, Kumar A, Sawant U, Varose SY, Taur P, Yadav RM, Tatkare M, Fernandes M, Bargir U, Majumdar S, Edavazhippurath A, Rangarajan J, Manthri R, Madkaikar MR. Mohanty MC, et al. Vaccines (Basel). 2023 Jul 6;11(7):1211. doi: 10.3390/vaccines11071211. Vaccines (Basel). 2023. PMID: 37515027 Free PMC article.
A male child of 3 years and 6 months of age diagnosed with Hyper IgM syndrome was detected positive for type1 VDPV (iVDPV1) with 1.6% nucleotide divergence from the parent Sabin strain. ...
A male child of 3 years and 6 months of age diagnosed with Hyper IgM syndrome was detected positive for type1 VDPV (iVD …
Elevated levels of enteric IgA in an unimmunised mouse model of Hyper IgM syndrome derived from gut-associated secondary lymph organs even in the absence of germinal centres.
Hernandez-Cazares F, Maqueda-Alfaro RA, Lopez-Saucedo C, Martinez-Barnetche J, Yam-Puc JC, Estrada-Parra S, Flores-Romo L, Estrada-Garcia T. Hernandez-Cazares F, et al. Front Cell Infect Microbiol. 2023 Jun 29;13:1172021. doi: 10.3389/fcimb.2023.1172021. eCollection 2023. Front Cell Infect Microbiol. 2023. PMID: 37457961 Free PMC article.
Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.
Pazhanisamy A, Jorge SD, Zimmermann MT, Kitcharoensakkul M, Abdalgani M, Khojah A, Victor C, Rueda C, Urrutia R, Abraham RS. Pazhanisamy A, et al. Clin Immunol. 2023 Aug;253:109692. doi: 10.1016/j.clim.2023.109692. Epub 2023 Jul 9. Clin Immunol. 2023. PMID: 37433422
X-Linked Hyper-IgM Syndrome is caused by pathogenic variants in CD40LG. Three patients with atypical clinical and immunological features were identified with variants in CD40LG requiring further characterization. ...
X-Linked Hyper-IgM Syndrome is caused by pathogenic variants in CD40LG. Three patients with atypical clinical and immun …
Immunodeficiency.
Justiz Vaillant AA, Qurie A. Justiz Vaillant AA, et al. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 29763203 Free Books & Documents.
Patients, in addition to the above, will have other disorders like parathyroid deficiencies. Antifungals are useful. Hyper-IgM syndrome: This disorder is characterized by bacterial infections, including pneumonia, meningitis, otitis, among others that start …
Patients, in addition to the above, will have other disorders like parathyroid deficiencies. Antifungals are useful. Hyper-IgM …
[Hyper-IgM syndrome with early liver involvement].
Coronado-Hernández KG, Campos-Téllez HH, Cortés-Grimaldo RM, Macías-Robles AP, Estrada-García CD, Barrios-Díaz B, Ramírez Nepomuceno A, Barreto-Alcalá M, Esparza-Amaya D, Carvajal-Alonso HL, Berrón-Ruiz L. Coronado-Hernández KG, et al. Rev Alerg Mex. 2023 Apr 19;69(4):214-219. doi: 10.29262/ram.v69i4.1091. Rev Alerg Mex. 2023. PMID: 37218048 Spanish.
INTRODUCTION: Hyper-IgM syndrome is an innate error of immunity in which there is a defect in change of isotype of immunoglobulins, with decreased values of IgG, IgA, and IgE, but normal or increased level of IgM. ...Clinical evolution with early hepatic invo …
INTRODUCTION: Hyper-IgM syndrome is an innate error of immunity in which there is a defect in change of isotype of immu …
Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S. Moriya K, et al. Immunol Med. 2023 Dec;46(4):153-157. doi: 10.1080/25785826.2023.2210366. Epub 2023 May 13. Immunol Med. 2023. PMID: 37178059 Free article. Review.
The disease is characterized by recurrent airway infections and bronchiectasis. It is associated with hyper-IgM syndrome due to the defect of immunoglobulin class switch recombination and decreased CD27-positive memory B cells. ...
The disease is characterized by recurrent airway infections and bronchiectasis. It is associated with hyper-IgM syndrome …
CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.
Xu HB, Tian MQ, Bai YH, Ran X, Li L, Chen Y. Xu HB, et al. BMC Pediatr. 2023 May 13;23(1):239. doi: 10.1186/s12887-023-04054-6. BMC Pediatr. 2023. PMID: 37173671 Free PMC article.
BACKGROUND: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. ...The structural model of CD40LG indicated that all mutations caused the X-linked …
BACKGROUND: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, …
Hematopoietic stem cell Transplantation in Children with very Early Onset Inflammatory Bowel Disease Secondary to Monogenic Disorders of immune-dysregulation.
Meena S, Varla H, Swaminathan VV, Chandar R, Jayakumar I, Ramakrishnan B, Uppuluri R, Raj R. Meena S, et al. Indian J Hematol Blood Transfus. 2023 Apr;39(2):183-190. doi: 10.1007/s12288-022-01586-2. Epub 2022 Oct 26. Indian J Hematol Blood Transfus. 2023. PMID: 37006985 Free PMC article.
Results: Of the 25 children included, the underlying diagnosis was IL10R deficiency (n = 4), Wiskott-Aldrich syndrome (n = 4), Leukocyte adhesion defect (n = 4), Hyper IgM syndrome (n = 3), Chronic granulomatous disease (n = 2), and one each with XIAP deficie …
Results: Of the 25 children included, the underlying diagnosis was IL10R deficiency (n = 4), Wiskott-Aldrich syndrome (n = 4), Leukocyte adh …
Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman.
Prakash PR, Gupta G, Aggarwal M, Baitha U. Prakash PR, et al. BMJ Case Rep. 2023 Mar 17;16(3):e253878. doi: 10.1136/bcr-2022-253878. BMJ Case Rep. 2023. PMID: 36931691 Free PMC article.
Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus, a diagnosis of hyper-IgM syndrome type 2 was confirmed. The patient was started on monthly intravenous immunoglobulin …
Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus …
Hyper-IgM and acquired C1q complement deficiency in a patient with de novo  ATM mutation.
Lee AYS, Dai P, Burnett L, Wei X, Kakar F, Ohnesorg T, Lin MW. Lee AYS, et al. Oxf Med Case Reports. 2023 Feb 27;2023(2):omad005. doi: 10.1093/omcr/omad005. eCollection 2023 Feb. Oxf Med Case Reports. 2023. PMID: 36860961 Free PMC article.
Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. ...
Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. ...
Progressive Multifocal Leukoencephalopathy With Hyper-IgM Syndrome in a 6-Year-Old Boy.
Kim HS, Cho HW, Kim YJ, Jung SJ. Kim HS, et al. Brain Neurorehabil. 2022 Jun 27;15(3):e32. doi: 10.12786/bn.2022.15.e32. eCollection 2022 Nov. Brain Neurorehabil. 2022. PMID: 36742087 Free PMC article.
We report the case of a 6-year-old boy with hyper-IgM syndrome as an underlying disease who showed progressive multifocal leukoencephalopathy findings on brain magnetic resonance imaging after visiting the hospital due to left upper extremity muscle weakness, …
We report the case of a 6-year-old boy with hyper-IgM syndrome as an underlying disease who showed progressive multifoc …
Case report: Hemophagocytic lymphohistiocytosis in a child with primary immunodeficiency infected with Talaromyces marneffei.
Yan H, Mo Y, Liu S, Luo X, Liu L, Zhou L, Zhang X, Chen Y, Cao K. Yan H, et al. Front Immunol. 2022 Dec 2;13:1038354. doi: 10.3389/fimmu.2022.1038354. eCollection 2022. Front Immunol. 2022. PMID: 36532052 Free PMC article.
This included a mutation in exon 3 of the CD40LG gene, c.346G>A, which may be linked to hyper-IgM syndrome, a primary immunodeficiency disease with immunoglobulin conversion recombination defects that could explain the patient's increased susceptibility to …
This included a mutation in exon 3 of the CD40LG gene, c.346G>A, which may be linked to hyper-IgM syndrome, a primar …
X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.
Ramachandran R, Krishnan Y, Singh P, Kumar A, Mohanty A. Ramachandran R, et al. Immunogenetics. 2023 Apr;75(2):191-194. doi: 10.1007/s00251-022-01289-y. Epub 2022 Dec 7. Immunogenetics. 2023. PMID: 36478253
The X-linked hyper-IgM syndrome (X-HIGM1) is a rare primary immunodeficiency disorder (PID) caused by mutations in the gene encoding the CD154 protein, also known as CD40 ligand (CD40LG). ...
The X-linked hyper-IgM syndrome (X-HIGM1) is a rare primary immunodeficiency disorder (PID) caused by mutations in the …
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
Chear CT, El Farran BAK, Sham M, Ramalingam K, Noh LM, Ismail IH, Chiow MY, Baharin MF, Ripen AM, Mohamad SB. Chear CT, et al. Genes (Basel). 2022 Oct 19;13(10):1900. doi: 10.3390/genes13101900. Genes (Basel). 2022. PMID: 36292785 Free PMC article.
In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was described. However, the diagnosis of Hyper IgM syndrome was excluded by the normal functional studies and the mild features of ectode …
In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was described. How …
Immunodeficiency Hiding in Plain Sight.
Argyle TC, Singh A, Abdullah F. Argyle TC, et al. Cureus. 2022 Aug 1;14(8):e27571. doi: 10.7759/cureus.27571. eCollection 2022 Aug. Cureus. 2022. PMID: 35928175 Free PMC article.
Here we present a case of a challenging hyper IgM syndrome diagnosed after seven months and multiple hospitalizations for unique multisystem pathologies....
Here we present a case of a challenging hyper IgM syndrome diagnosed after seven months and multiple hospitalizations f …
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW, Wong CY, Leung D, Yang X, Fok SFS, Mak PHS, Yao L, Ma W, Mao H, Zhao X, Liang W, Singh S, Barbouche MR, He JX, Jiang LP, Liew WK, Le MHT, Muktiarti D, Santos-Ocampo FJ, Djidjik R, Belaid B, Ismail IH, Abdul Latiff AH, Lee WS, Chen TX, Liu J, Jin R, Wang X, Chien YH, Yu HH, Raj D, Raj R, Vaughan J, Urban M, van den Berg S, Eley B, Lee AC, Isa MS, Ang EY, Lee BW, Yeoh AEJ, Shek LP, Quynh Le NN, Nguyen VAT, Phan Nguyen Lien A, Capulong RD, Mallillin JM, Villanueva JCMM, Camonayan KAB, Vera M, Casis-Hao RJ, Lobo RCM, Foronda R, Binas VWE, Boushaki S, Kechout N, Phongsamart G, Wongwaree S, Jiratchaya C, Lao-Araya M, Trakultivakorn M, Suratannon N, Jirapongsananuruk O, Chantveerawong T, Kamchaisatian W, Chan LL, Koh MT, Wong KJ, Fong SM, Thong MK, Latiff ZA, Noh LM, de Silva R, Jouhadi Z, Al-Saad K, Vignesh P, Jindal AK, Rawat A, Gupta A, Suri D, Yang J, Au EY, Kwok JS, Chan SY, Hui WY, Chua GT, Duque JR, Cheong KN, Chong PCY, Ho MHK, Lee TL, Wong WH, Yang W, Lee PP, Tu W, Yang XQ, Lau YL. Chan KW, et al. Front Immunol. 2022 Jul 8;13:883446. doi: 10.3389/fimmu.2022.883446. eCollection 2022. Front Immunol. 2022. PMID: 35874699 Free PMC article.
The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott-Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51 …
The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wis …
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.
Kristal E, Nahum A, Ling G, Broides A, Shubinsky G, Eskin-Schwartz M, Hadar N, Progador O, Birk O. Kristal E, et al. Immunol Res. 2022 Dec;70(6):775-780. doi: 10.1007/s12026-022-09305-9. Epub 2022 Jul 1. Immunol Res. 2022. PMID: 35776314
These manifestations were not previously described in THES patients and this raised our index of suspicion towards "atypical" hyper IgM syndrome. Although the pathogenesis of immunoglobulin production dysfunction in THES is still elusive, this disorder should …
These manifestations were not previously described in THES patients and this raised our index of suspicion towards "atypical" hyper …
[Clinical effect of allogeneic hematopoietic stem cell transplantation in children with hyper-IgM syndrome].
Wang ZQ, Meng Y, Dou Y, Guan XM, Zhang LY, Yu J. Wang ZQ, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jun 15;24(6):635-642. doi: 10.7499/j.issn.1008-8830.2112098. Zhongguo Dang Dai Er Ke Za Zhi. 2022. PMID: 35762429 Free PMC article. Chinese.
OBJECTIVES: To evaluate the clinical effect of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with hyper-IgM syndrome (HIGM). METHODS: A retrospective analysis was performed on the medical data of 17 children with HIGM who received …
OBJECTIVES: To evaluate the clinical effect of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with hyper- …
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Rawat A, Sharma M, Vignesh P, Jindal AK, Suri D, Das J, Joshi V, Tyagi R, Sharma J, Kaur G, Lau YL, Imai K, Nonoyama S, Lenardo M, Singh S. Rawat A, et al. Sci Rep. 2022 Jun 21;12(1):10416. doi: 10.1038/s41598-022-14522-1. Sci Rep. 2022. PMID: 35729272 Free PMC article.
These included patients with Chronic Granulomatous Disease, Severe Combined Immune Deficiency, leukocyte adhesion defect, X-linked agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syndrome, Wiskott Aldrich syndrome, Mendelian susceptibility to mycobacterial diseases, Hyper …
These included patients with Chronic Granulomatous Disease, Severe Combined Immune Deficiency, leukocyte adhesion defect, X-linked agammaglo …
Mobilization-based chemotherapy-free engraftment of gene-edited human hematopoietic stem cells.
Omer-Javed A, Pedrazzani G, Albano L, Ghaus S, Latroche C, Manzi M, Ferrari S, Fiumara M, Jacob A, Vavassori V, Nonis A, Canarutto D, Naldini L. Omer-Javed A, et al. Cell. 2022 Jun 23;185(13):2248-2264.e21. doi: 10.1016/j.cell.2022.04.039. Epub 2022 May 25. Cell. 2022. PMID: 35617958 Free PMC article.
We show the therapeutic efficacy in a mouse model of hyper IgM syndrome and further developed it in human hematochimeric mice, showing its applicability and versatility when coupled with gene transfer and editing strategies. ...
We show the therapeutic efficacy in a mouse model of hyper IgM syndrome and further developed it in human hematochimeri …
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
Palterer B, Salvati L, Capone M, Mecheri V, Maggi L, Mazzoni A, Cosmi L, Volpi N, Tiberi L, Provenzano A, Giglio S, Parronchi P, Maggiore G, Gallo O, Bartoloni A, Annunziato F, Zammarchi L, Liotta F. Palterer B, et al. Front Immunol. 2022 Apr 28;13:840767. doi: 10.3389/fimmu.2022.840767. eCollection 2022. Front Immunol. 2022. PMID: 35572607 Free PMC article.
X-linked hyper IgM syndrome with severe eosinophilia: a case report and review of the literature.
Li H, Cao Y, Ma J, Li C. Li H, et al. BMC Pediatr. 2022 Apr 4;22(1):178. doi: 10.1186/s12887-022-03251-z. BMC Pediatr. 2022. PMID: 35379217 Free PMC article. Review.
The absolute eosinophil count (AEC) also returned to normal range. X-linked hyper IgM syndrome was confirmed by gene test. Two months after the diagnosis, the patient underwent allogeneic stem cell transplantation (HSCT) and has recovered well. ...
The absolute eosinophil count (AEC) also returned to normal range. X-linked hyper IgM syndrome was confirmed by gene te …
Bronchial inflammation biomarker patterns link humoral immunodeficiency with bronchiectasis-related small airway dysfunction.
Zissler UM, Thron A, Eckrich J, Bakhtiar S, Schubert R, Zielen S. Zissler UM, et al. Clin Exp Allergy. 2022 Jun;52(6):760-773. doi: 10.1111/cea.14140. Epub 2022 Apr 11. Clin Exp Allergy. 2022. PMID: 35353925
METHODS: In a prospective design, 22 patients with ID (14 CVID, 3 XLA, 3 hyper-IgM syndrome, 1 hyper-IgE syndrome and low IgG levels due to treatment with rituximab and 1 SCID after BMT and persistent humoral defect) and 21 healthy controls were examined. ...
METHODS: In a prospective design, 22 patients with ID (14 CVID, 3 XLA, 3 hyper-IgM syndrome, 1 hyper-IgE syndrome and l …
Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.
Škorvánek M, Jech R, Winkelmann J, Zech M. Škorvánek M, et al. Ann Clin Transl Neurol. 2022 Apr;9(4):577-581. doi: 10.1002/acn3.51538. Epub 2022 Mar 10. Ann Clin Transl Neurol. 2022. PMID: 35267244 Free PMC article.
This revealed a pathogenic hemizygous variant in CD40LG, the gene implicated in X-linked hyper-IgM syndrome. Only two prior reports have specifically suggested a causal relationship between CD40LG mutations and involuntary hyperkinetic movements. ...
This revealed a pathogenic hemizygous variant in CD40LG, the gene implicated in X-linked hyper-IgM syndrome. Only two p …
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.
Rawat A, Tyagi R, Chaudhary H, Pandiarajan V, Jindal AK, Suri D, Gupta A, Sharma M, Arora K, Bal A, Madaan P, Saini L, Sahu JK, Ogura Y, Kato T, Imai K, Nonoyama S, Singh S. Rawat A, et al. Sci Rep. 2022 Mar 8;12(1):4036. doi: 10.1038/s41598-022-08019-0. Sci Rep. 2022. PMID: 35260754 Free PMC article.
Unusual presentations included an EBV-associated smooth muscle tumour located in the liver in one case and Hyper IgM syndrome-like presentation in two cases. Increased immunosenescence was observed in T-cell subsets (CD4+CD57+ and CD8+CD57+). ...
Unusual presentations included an EBV-associated smooth muscle tumour located in the liver in one case and Hyper IgM syndro …
A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.
Dirks J, Haase G, Cantaert T, Frey L, Klaas M, Rickert CH, Girschick H, Meffre E, Morbach H. Dirks J, et al. J Clin Immunol. 2022 May;42(4):771-782. doi: 10.1007/s10875-022-01233-5. Epub 2022 Mar 5. J Clin Immunol. 2022. PMID: 35246784 Free PMC article.
Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding activation-induced cytidine deaminase (AID) which impair immunoglobulin class switch recombination (CSR) and somatic hypermutation (SHM). .. …
Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding …
Pulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center.
Khalili M, Farzi H, Darougar S, Hajijoo F, Mesdaghi M, Mansouri M, Babaie D, Hashemitari A, Eslami N, Chavoshzadeh Z. Khalili M, et al. Iran J Allergy Asthma Immunol. 2021 Dec 8;20(6):693-699. doi: 10.18502/ijaai.v20i6.8020. Iran J Allergy Asthma Immunol. 2021. PMID: 34920652 Free article.
The "humoral" group included seven patients with Hyper IgM syndrome (HIGMs), seven cases with common variable immunodeficiency (CVID), three patients with X-linked agammaglobulinemia, and three patients with other types of humoral primary immunodeficiencies ( …
The "humoral" group included seven patients with Hyper IgM syndrome (HIGMs), seven cases with common variable immunodef …
Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.
Lien NTK, Van Anh NT, Chi LQ, Le NNQ, Huyen TT, Mai NTP, Van Tung N, Hoang NH. Lien NTK, et al. Clin Exp Med. 2023 Feb;23(1):157-161. doi: 10.1007/s10238-021-00774-0. Epub 2021 Nov 29. Clin Exp Med. 2023. PMID: 34842998
The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the CD40LG gene. Hyper IgM syndrome is characterized by the absence or decreased levels of IgG and IgA and normal or elevated IgM levels in s …
The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the CD40LG gene. Hy …
A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies.
Israeli S, Golden A, Atalig M, Mekki N, Rais A, Storey H, Barbouche MR, Peck R. Israeli S, et al. J Clin Immunol. 2022 Feb;42(2):394-403. doi: 10.1007/s10875-021-01179-0. Epub 2021 Nov 27. J Clin Immunol. 2022. PMID: 34839430 Free PMC article.
METHODS: Three prototype tests distinguishing low and normal IgG levels were evaluated with a blinded panel of serum/plasma specimens from 32 healthy controls and 86 primary immunodeficiency-confirmed patients with agammaglobulinemia, common variable immunodeficiency, and hype …
METHODS: Three prototype tests distinguishing low and normal IgG levels were evaluated with a blinded panel of serum/plasma specimens from 3 …
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia.
Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, Bastard P, Aranda-Guillén M, Wang Y, Zuo F, Sardh F, Marcotte H, Du L, Zhang SY, Zhang Q, Rezaei N, Kämpe O, Casanova JL, Hammarström L, Pan-Hammarström Q. Abolhassani H, et al. J Clin Immunol. 2022 Jan;42(1):1-9. doi: 10.1007/s10875-021-01151-y. Epub 2021 Oct 23. J Clin Immunol. 2022. PMID: 34686943 Free PMC article.
RESULTS: We report a 7-year-old Iranian boy with a preexisting hyper IgM syndrome who developed critical COVID-19 pneumonia. IgM only specific COVID-19 immune response was detected but no autoantibodies against type I IFN were observed. ...
RESULTS: We report a 7-year-old Iranian boy with a preexisting hyper IgM syndrome who developed critical COVID-19 pneum …
[Unrelated umbilical cord blood stem cell transplantation in the treatment of hyper-IgM syndrome caused by CD40 ligand gene mutation: a report of three cases and literature review].
Wang P, Qian XW, Wang HS, Jiang WJ, Sun JQ, Wang XC, Zhai XW. Wang P, et al. Zhonghua Er Ke Za Zhi. 2021 Oct 2;59(10):830-835. doi: 10.3760/cma.j.cn112140-20210411-00309. Zhonghua Er Ke Za Zhi. 2021. PMID: 34587678 Review. Chinese.
Objective: To evaluate the efficacy and safety of unrelated umbilical cord blood stem cell transplantation (UCBT) with reduced-intensity conditioning regimens in the treatment of hyper-IgM syndrome (HIGM) caused by CD40 ligand gene (CD40LG) mutation. Methods: …
Objective: To evaluate the efficacy and safety of unrelated umbilical cord blood stem cell transplantation (UCBT) with reduced-intensity con …
Cryptococcal Meningitis and Post-Infectious Inflammatory Response Syndrome in a Patient With X-Linked Hyper IgM Syndrome: A Case Report and Review of the Literature.
Romani L, Williamson PR, Di Cesare S, Di Matteo G, De Luca M, Carsetti R, Figà-Talamanca L, Cancrini C, Rossi P, Finocchi A. Romani L, et al. Front Immunol. 2021 Jul 15;12:708837. doi: 10.3389/fimmu.2021.708837. eCollection 2021. Front Immunol. 2021. PMID: 34335625 Free PMC article. Review.
The hyper IgM syndromes are a rare group of primary immunodeficiency. The X-linked Hyper IgM syndrome (HIGM), due to a gene defect in CD40L, is the commonest variant; it is characterized by an increased susceptibility to a narrow spectrum of opportunistic inf …
The hyper IgM syndromes are a rare group of primary immunodeficiency. The X-linked Hyper IgM syndrome (HIGM), due to a …
CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.
Phan ANL, Pham TTT, Phan XT, Huynh N, Nguyen TM, Cao CTT, Nguyen DT, Luong KTX, Nguyen TTM, Tran ANK, Pham LTT, Nguyen VVT, Swagemakers S, Bui CB, Van Hagen PM. Phan ANL, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1732. doi: 10.1002/mgg3.1732. Epub 2021 Jun 10. Mol Genet Genomic Med. 2021. PMID: 34114358 Free PMC article.
BACKGROUND: X-linked hyper-IgM syndrome (XHIGM) is a rare primary immunodeficiency caused by CD40 ligand defects. ...
BACKGROUND: X-linked hyper-IgM syndrome (XHIGM) is a rare primary immunodeficiency caused by CD40 ligand defects. ...
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction.
Català-Moll F, Ferreté-Bonastre AG, Li T, Weichenhan D, Lutsik P, Ciudad L, Álvarez-Prado ÁF, Rodríguez-Ubreva J, Klemann C, Speckmann C, Vilas-Zornoza A, Abolhassani H, Martínez-Gallo M, Dieli-Crimi R, Rivière JG, Martín-Nalda A, Colobran R, Soler-Palacín P, Kracker S, Hammarström L, Prosper F, Durandy A, Grimbacher B, Plass C, Ballestar E. Català-Moll F, et al. Nucleic Acids Res. 2021 May 21;49(9):5057-5073. doi: 10.1093/nar/gkab322. Nucleic Acids Res. 2021. PMID: 33950194 Free PMC article.
Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary antibody deficiency. AID-mediated deamination has been proposed as leading to active demethylation of 5-methycytosines in the DNA, although evidence both support …
Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary antibody deficiency. …
Disseminated Cryptosporidium infection in an infant with CD40L deficiency.
Dupuy F, Valot S, Dalle F, Sterin A, L'Ollivier C. Dupuy F, et al. IDCases. 2021 Apr 7;24:e01115. doi: 10.1016/j.idcr.2021.e01115. eCollection 2021. IDCases. 2021. PMID: 33868928 Free PMC article.
Cryptosporidiosis leads to diarrhoea mimicking a cholera-like course with dehydration and may even result in death in immunodeficient patients, as patients with hyper-IgM syndrome. We describe a rare case of disseminated Cryptosporidium infection in a seven- …
Cryptosporidiosis leads to diarrhoea mimicking a cholera-like course with dehydration and may even result in death in immunodeficient patien …
Insights into the Structures and Multimeric Status of APOBEC Proteins Involved in Viral Restriction and Other Cellular Functions.
Chen XS. Chen XS. Viruses. 2021 Mar 17;13(3):497. doi: 10.3390/v13030497. Viruses. 2021. PMID: 33802945 Free PMC article. Review.
Dysregulation of their functions can cause undesired genomic mutations and RNA modification, leading to various associated diseases, such as hyper-IgM syndrome and cancer. This review focuses on the structural and biochemical data on the multimerization statu …
Dysregulation of their functions can cause undesired genomic mutations and RNA modification, leading to various associated diseases, such as …
Photoclinic: Cryptosporidiosis in Hyper IgM Syndrome.
Safavi M, Rohani P, Zaresharifi N. Safavi M, et al. Arch Iran Med. 2021 Feb 1;24(2):129-130. doi: 10.34172/aim.2021.20. Arch Iran Med. 2021. PMID: 33636981 Free article. No abstract available.
Soluble CD40L activates soluble and cell-surface integrin αvβ3, α5β1, and α4β1 by binding to the allosteric ligand-binding site (site 2).
Takada YK, Shimoda M, Maverakis E, Felding BH, Cheng RH, Takada Y. Takada YK, et al. J Biol Chem. 2021 Jan-Jun;296:100399. doi: 10.1016/j.jbc.2021.100399. Epub 2021 Feb 9. J Biol Chem. 2021. PMID: 33571526 Free PMC article.
Docking simulations predicted that the residues of CD40L that bind to site 2 are located outside of the CD40L trimer interface, at a site where four HIGM1 (hyper-IgM syndrome type 1) mutations are clustered. We tested the effect of these mutations, finding th …
Docking simulations predicted that the residues of CD40L that bind to site 2 are located outside of the CD40L trimer interface, at a site wh …
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases.
Nishimura A, Aoki Y, Ishiwata Y, Ichimura T, Ueyama J, Kawahara Y, Tomoda T, Inoue M, Matsumoto K, Inoue K, Hiroki H, Ono S, Yamashita M, Okano T, Tanaka-Kubota M, Ashiarai M, Miyamoto S, Miyawaki R, Yamagishi C, Tezuka M, Okawa T, Hoshino A, Endo A, Yasuhara M, Kamiya T, Mitsuiki N, Ono T, Isoda T, Yanagimachi M, Tomizawa D, Nagasawa M, Mizutani S, Kajiwara M, Takagi M, Kanegane H, Imai K, Morio T. Nishimura A, et al. J Clin Immunol. 2021 Jul;41(5):944-957. doi: 10.1007/s10875-021-00966-z. Epub 2021 Feb 1. J Clin Immunol. 2021. PMID: 33527309
Patients with WAS (2/2 patients), NEMO deficiency (2/2 patients), and X-linked hyper IgM syndrome (2/3 patients) who received FluBU achieved complete or high-level mixed chimerism and long-term survival. ...
Patients with WAS (2/2 patients), NEMO deficiency (2/2 patients), and X-linked hyper IgM syndrome (2/3 patients) who re …
Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper-IgM syndrome.
Vavassori V, Mercuri E, Marcovecchio GE, Castiello MC, Schiroli G, Albano L, Margulies C, Buquicchio F, Fontana E, Beretta S, Merelli I, Cappelleri A, Rancoita PM, Lougaris V, Plebani A, Kanariou M, Lankester A, Ferrua F, Scanziani E, Cotta-Ramusino C, Villa A, Naldini L, Genovese P. Vavassori V, et al. EMBO Mol Med. 2021 Mar 5;13(3):e13545. doi: 10.15252/emmm.202013545. Epub 2021 Jan 21. EMBO Mol Med. 2021. PMID: 33475257 Free PMC article.
Precise correction of the CD40LG gene in T cells and hematopoietic stem/progenitor cells (HSPC) holds promise for treating X-linked hyper-IgM Syndrome (HIGM1), but its actual therapeutic potential remains elusive. Here, we developed a one-size-fits-all editin …
Precise correction of the CD40LG gene in T cells and hematopoietic stem/progenitor cells (HSPC) holds promise for treating X-linked hyper …
[Genetic analysis of a child with co-commitment progressive multifocal leukoencephalopathy and X-linked hyper IgM syndrome].
Li D, Li Q. Li D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):78-82. doi: 10.3760/cma.j.cn511374-20191225-00663. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33423265 Chinese.
OBJECTIVE: To detect variant of the CD40L gene and infection of Jamestown Canyon virus (JCV) in a 7-year-and-9-month-old boy with co-commitment progressive multifocal leukoencephalopathy (PML) and X-linked hyper IgM syndrome (XHIGM). METHODS: Peripheral blood …
OBJECTIVE: To detect variant of the CD40L gene and infection of Jamestown Canyon virus (JCV) in a 7-year-and-9-month-old boy with co-commitm …
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
Fekrvand S, Delavari S, Chavoshzadeh Z, Sherkat R, Mahdaviani SA, Sadeghi Shabestari M, Azizi G, Arzanian MT, Shahin Shamsian B, Eskandarzadeh S, Eslami N, Rae W, Condino-Neto A, Mohammadi J, Abolhassani H, Yazdani R, Aghamohammadi A. Fekrvand S, et al. Immunol Invest. 2022 Apr;51(3):644-659. doi: 10.1080/08820139.2020.1863982. Epub 2021 Jan 6. Immunol Invest. 2022. PMID: 33401995
Recurrent respiratory tract infections followed by lymphoproliferation and autoimmunity were the most common manifestations (86.7%, 53.3% and 26.7%, respectively). Five patients (33.3%) had a Hyper-IgM-syndrome-like immunoglobulin profile. In the APDS1 group, …
Recurrent respiratory tract infections followed by lymphoproliferation and autoimmunity were the most common manifestations (86.7%, 53.3% an …
Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.
Chen X, Liu F, Yuan L, Zhang M, Chen K, Wu Y. Chen X, et al. Mol Genet Genomic Med. 2021 Jan;9(1):e1552. doi: 10.1002/mgg3.1552. Epub 2020 Dec 30. Mol Genet Genomic Med. 2021. PMID: 33377626 Free PMC article.
CONCLUSION: Four pathogenic variants in AICDA and BTK were confirmed to cause different forms of hyper-IgM syndrome type 2 (HIGM2) and X-linked agammaglobulinemia (XLA); two were novel mutations that have never been reported previously. ...
CONCLUSION: Four pathogenic variants in AICDA and BTK were confirmed to cause different forms of hyper-IgM syndrome typ …
A Hyper-IgM Syndrome Mutation in Activation-Induced Cytidine Deaminase Disrupts G-Quadruplex Binding and Genome-wide Chromatin Localization.
Yewdell WT, Kim Y, Chowdhury P, Lau CM, Smolkin RM, Belcheva KT, Fernandez KC, Cols M, Yen WF, Vaidyanathan B, Angeletti D, McDermott AB, Yewdell JW, Sun JC, Chaudhuri J. Yewdell WT, et al. Immunity. 2020 Nov 17;53(5):952-970.e11. doi: 10.1016/j.immuni.2020.10.003. Epub 2020 Oct 23. Immunity. 2020. PMID: 33098766 Free PMC article.
Mice bearing a mutation in Aicda (AID(G133V)) that disrupts AID-G4 binding modeled the pathology of hyper-IgM syndrome patients with an orthologous mutation, lacked CSR and SHM, and had broad defects in genome-wide AID(G133V) chromatin localization. ...
Mice bearing a mutation in Aicda (AID(G133V)) that disrupts AID-G4 binding modeled the pathology of hyper-IgM syndrome …
Childhood choreoathetosis secondary to hyper-IgM syndrome (CD40 ligand deficiency).
Coulter IC, Yan H, Gorodetsky C, Akhbari M, Breitbart S, Kalia SK, Fasano A, Ibrahim GM. Coulter IC, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Oct 16;7(6):e899. doi: 10.1212/NXI.0000000000000899. Print 2020 Nov. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 33067350 Free PMC article. No abstract available.
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.
Drabe CH, Marvig RL, Borgwardt L, Lundgren JD, Maquart HVH, Katzenstein TL, Helleberg M. Drabe CH, et al. Front Immunol. 2020 Sep 11;11:567856. doi: 10.3389/fimmu.2020.567856. eCollection 2020. Front Immunol. 2020. PMID: 33013931 Free PMC article.
(Arg11( ))] was identified by whole genome sequencing, thus enabling the diagnosis of X-linked hyper IgM syndrome. This case illustrates and supports the potential for the use of whole genome sequencing in accurate diagnosis of primary immunodeficiencies....
(Arg11( ))] was identified by whole genome sequencing, thus enabling the diagnosis of X-linked hyper IgM syndrome. This …
AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.
Delplanque M, Galicier L, Oziol E, Ducharme-Bénard S, Oksenhendler E, Buob D, Grateau G, Boutboul D, Georgin-Lavialle S. Delplanque M, et al. J Allergy Clin Immunol Pract. 2021 Feb;9(2):745-752.e1. doi: 10.1016/j.jaip.2020.09.023. Epub 2020 Sep 30. J Allergy Clin Immunol Pract. 2021. PMID: 33007500
PIDs were varied: immunoglobulin deficits (n = 30), chronic granulomatous disease (n = 3), hyper-IgM syndrome (n = 3), hereditary complete C4 deficiency (n = 1), leucocyte adhesion deficiency type 1 (n = 1), hyper-IgE syndrome (n = 1), and Chediak-Higashi syn …
PIDs were varied: immunoglobulin deficits (n = 30), chronic granulomatous disease (n = 3), hyper-IgM syndrome (n = 3), …
Bell's palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
Theophanous C, Santoro JD, Itani R. Theophanous C, et al. Brain Dev. 2021 Feb;43(2):357-359. doi: 10.1016/j.braindev.2020.08.017. Epub 2020 Sep 4. Brain Dev. 2021. PMID: 32950319 Free PMC article.
We describe a medically complex 6-year-old male with hyper IgM syndrome who presented with unilateral facial droop and positive SARS-CoV-2 RT-PCR. ...
We describe a medically complex 6-year-old male with hyper IgM syndrome who presented with unilateral facial droop and …
Deficiency of activation-induced cytidine deaminase in a murine model of ulcerative colitis.
Hale LP. Hale LP. PLoS One. 2020 Sep 17;15(9):e0239295. doi: 10.1371/journal.pone.0239295. eCollection 2020. PLoS One. 2020. PMID: 32941525 Free PMC article.
The TIA model may also be useful for assessing the roles of antibody class-switch recombination deficiency and somatic hypermutation on regulation of microbiota and inflammation in the small intestine and colon, as well as the pathogenesis of colitis associated with hyper- …
The TIA model may also be useful for assessing the roles of antibody class-switch recombination deficiency and somatic hypermutation on regu …
Inflammatory aortitis in a patient with type 2 hyper IgM syndrome.
Staels F, Betrains A, Willemsen M, Corvelyn A, Tousseyn T, Dierickx D, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R. Staels F, et al. Rheumatology (Oxford). 2021 Mar 2;60(3):e87-e89. doi: 10.1093/rheumatology/keaa573. Rheumatology (Oxford). 2021. PMID: 32940674 No abstract available.
B Cell Disorders in Children: Part II.
Griffin DD, Dolen WK. Griffin DD, et al. Curr Allergy Asthma Rep. 2020 Aug 21;20(11):64. doi: 10.1007/s11882-020-00963-z. Curr Allergy Asthma Rep. 2020. PMID: 32821980 Review.
Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report.
Zhang FZ, Yuan JX, Qin L, Tang LF. Zhang FZ, et al. Front Pediatr. 2020 Jun 11;8:264. doi: 10.3389/fped.2020.00264. eCollection 2020. Front Pediatr. 2020. PMID: 32596190 Free PMC article.
Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have been reported to date in pediatric patients with type 1 hyper-IgM syndrome (HIGM1). Case Presentation: Herein, we pres …
Reports of rare cases of PAP due to Pneumocystis jirovecii (P. jirovecii) exist in infants with immunodeficiency diseases, but no cases have …
Evaluation of Radiation Sensitivity in Patients with Hyper IgM Syndrome.
Fekrvand S, Mozdarani H, Delavari S, Sohani M, Nazari F, Kiaee F, Bagheri Y, Azizi G, Hassanpour G, Mozdarani S, Abolhassani H, Aghamohammadi A, Yazdani R. Fekrvand S, et al. Immunol Invest. 2021 Jul;50(5):580-596. doi: 10.1080/08820139.2020.1779288. Epub 2020 Jun 25. Immunol Invest. 2021. PMID: 32584193
Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report.
Li J, Miao H, Wu L, Fang Y. Li J, et al. Medicine (Baltimore). 2020 Jun 12;99(24):e20505. doi: 10.1097/MD.0000000000020505. Medicine (Baltimore). 2020. PMID: 32541472 Free PMC article.
INTRODUCTION: X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations in CD40 ligand. Opportunistic infections caused by P jirovecii, cytomegalovirus (CMV), or fungi are frequently the first presenting symptom o …
INTRODUCTION: X-linked hyper-IgM syndrome is a type of primary combined immunodeficiency disorder caused by mutations i …
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