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Quoted phrase not found in phrase index: "Combined immunodeficiency due to LRBA deficiency"
Page 1
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T. Kanegane H, et al. Allergol Int. 2018 Jan;67(1):43-54. doi: 10.1016/j.alit.2017.06.003. Epub 2017 Jul 3. Allergol Int. 2018. PMID: 28684198 Free article. Review.
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. ...Flow cytometry effectively identifies major forms of PIDs, including severe combined immunodeficiency, X-linked agammaglobulinemia, hyper IgM syndrom …
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. ...Flow cytometry effectively …
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM. López-Nevado M, et al. Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021. Front Immunol. 2021. PMID: 34447369 Free PMC article.
Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering from 24 distinct genetic defects described in the literature with an autoimmune lymphoproliferative phenotype (ALPS-like syndromes) cor …
Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering fr …
Novel Developments in Primary Immunodeficiencies (PID)-a Rheumatological Perspective.
Leavis H, Zwerina J, Manger B, Fritsch-Stork RDE. Leavis H, et al. Curr Rheumatol Rep. 2019 Sep 5;21(10):55. doi: 10.1007/s11926-019-0854-5. Curr Rheumatol Rep. 2019. PMID: 31486986 Review.
RECENT FINDINGS: Newly recognized disorders of immune dysregulation with underlying mutations in genes pertaining to the function of regulatory T cells (e.g., CTLA-4, LRBA, or BACH2) are characterized by multiple autoimmune diseases-mostly autoimmune cytopenia-combined …
RECENT FINDINGS: Newly recognized disorders of immune dysregulation with underlying mutations in genes pertaining to the function of regulat …
Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.
Costagliola G, Consolini R. Costagliola G, et al. Clin Exp Immunol. 2021 Sep;205(3):288-305. doi: 10.1111/cei.13620. Epub 2021 Jun 20. Clin Exp Immunol. 2021. PMID: 34008169 Free PMC article. Review.
Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibody deficiencies the prevalence is lower. They are also evidenced in different combined immunodeficiency disorders, including Omenn syn …
Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibody deficienc …
Childhood-onset Takayasu arteritis and immunodeficiency: case-based review.
Sener S, Basaran O, Batu ED, Atalay E, Esenboga S, Cagdas D, Kuskonmaz BB, Bilginer Y, Ozaltin F, Oguz B, Duzova A, Tezcan I, Ozen S. Sener S, et al. Clin Rheumatol. 2022 Sep;41(9):2883-2892. doi: 10.1007/s10067-022-06295-9. Epub 2022 Jul 20. Clin Rheumatol. 2022. PMID: 35854168 Review.
Takayasu arteritis (TAK) has been rarely reported in patients with immunodeficiency. In this review, we present two cases with childhood-onset TAK (c-TAK) and primary immunodeficiency while reviewing similar cases in the literature. ...A 14-year-old patient had lipo …
Takayasu arteritis (TAK) has been rarely reported in patients with immunodeficiency. In this review, we present two cases with childh …
Arthritis in children with LRBA deficiency - case report and literature review.
Semo Oz R, S Tesher M. Semo Oz R, et al. Pediatr Rheumatol Online J. 2019 Dec 17;17(1):82. doi: 10.1186/s12969-019-0388-4. Pediatr Rheumatol Online J. 2019. PMID: 31847838 Free PMC article. Review.
BACKGROUND: Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). ...CASE PRESENTATION AND REVIEW RESULTS: Herein, we describe a unique case of LRBA defic …
BACKGROUND: Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common …
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
Seidel MG, Tesch VK, Yang L, Hauck F, Horn AL, Smolle MA, Quehenberger F, Benesch M. Seidel MG, et al. J Clin Immunol. 2022 Apr;42(3):484-498. doi: 10.1007/s10875-021-01177-2. Epub 2021 Nov 19. J Clin Immunol. 2022. PMID: 34797428 Free PMC article.
On the basis of a literature review, we provide a descriptive comparison of ten selected scores and measures frequently used in IEI and divide these into three categories: (1) diagnostic tools (for Hyper-IgE syndrome, hemophagocytic lymphohistiocytosis, and Wiskott-Aldrich syndro …
On the basis of a literature review, we provide a descriptive comparison of ten selected scores and measures frequently used in IEI and divi …
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B. Gámez-Díaz L, et al. J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025. J Allergy Clin Immunol. 2016. PMID: 26768763
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein expression. OBJECTIVE: We sought to report the extended phenotype of LRBA …
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by bialleli …
Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.
Shamriz O, Shadur B, NaserEddin A, Zaidman I, Simanovsky N, Elpeleg O, Kerem E, Reiter J, Stepensky P. Shamriz O, et al. Eur J Pediatr. 2018 Aug;177(8):1163-1172. doi: 10.1007/s00431-018-3171-5. Epub 2018 May 18. Eur J Pediatr. 2018. PMID: 29777306
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune deficiency and immune dysregulation. ...On their latest examination, seven patients had no respiratory symptoms. CONCLUSION: Pulmonary manifes …
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune defici …
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.
Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, Gombert M, Hönscheid A, Saleh H, Shaag A, Borkhardt A, Grimbacher B, Warnatz K, Elpeleg O, Stepensky P. Revel-Vilk S, et al. Clin Immunol. 2015 Jul;159(1):84-92. doi: 10.1016/j.clim.2015.04.007. Epub 2015 Apr 27. Clin Immunol. 2015. PMID: 25931386
Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. ...Homozygous loss of function mutations in LRBA were identified by whole exome anal …
Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodefic …
19 results