4/3/2024 0 Comments What gene is mutated in scid![]() Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 2014 42:W337–43.Ĭandotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, et al. PredictProtein-an open resource for online prediction of protein structural and functional features. Yachdav G, Kloppmann E, Kajan L, Hecht M, Goldberg T, Hamp T, et al. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. ![]() 2010 7:575–6.īendl J, Stourac J, Salanda O, Pavelka A, Wieben ED, Zendulka J, et al. MutationTaster evaluates disease-causing potential of sequence alterations. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. SWISS-MODEL: homology modelling of protein structures and complexes. ![]() Waterhouse A, Bertoni M, Bienert S, Studer G, Tauriello G, Gumienny R, et al. 1990 215:403–10.īerman HM, Westbrook J, Feng Z, Gilliland G, Bhat TN, Weissig H, et al. 2012 40:e53.Īltschul SF, Gish W, Miller W, Myers EW, Lipman DJ. A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. Fast and accurate short read alignment with Burrows-Wheeler transform. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. Lev A, Simon AJ, Bareket M, Bielorai B, Hutt D, Amariglio N, et al. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Hematopoietic stem cell transplantation for severe combined immunodeficiency. Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients. Manor U, Lev A, Simon AJ, Hutt D, Toren A, Bielorai B. New insights into the regulation of T cells by gamma(c) family cytokines. Advances in the understanding of cytokine signal transduction: the role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency. O’Shea JJ, Notarangelo LD, Johnston JA, Candotti F. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Roberts JL, Lengi A, Brown SM, Chen M, Zhou YJ, O’Shea JJ, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Our findings help to link between genotype and phenotype, which is a key factor for the diagnosis and treatment of SCID patients.īuckley RH. Bioinformatic analysis of the JAK3 mutation indicated deleterious effect and 3D protein modeling located the mutation to a surface exposed alpha-helix structure. Whole-exome sequencing revealed novel mutations in both patients (patient 1-c.923delC frame-shift mutation in the IL2RG gene, patient 2-c.G172A a homozygous missense mutation in the JAK3 gene). T-cell proliferation in response to mitogens in patient 1 was very low and T-cell receptor V-beta chain repertoire in patient 2 was polyclonal. Despite the presence of B cells, IgG levels were low and IgA and IgM levels were undetectable. Lymphocyte subpopulation revealed significant T cells lymphopenia, normal B cells, and NK cells counts (T−B+NK+SCID). We report clinical course, immunological, genetic and proteomic work-up of two patients with different novel mutations in the IL-2-JAK3 pathway with a rare atypical presentation of T −B +NK − SCID. Mutations in the common gamma chain of the interleukin 2 receptor (IL2RG) or the associated downstream signaling enzyme Janus kinase 3 (JAK3) genes are typically characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-negative (T −B +NK −) severe combined immunodeficiency (SCID) immune phenotype.
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