Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
Journal
Genes and immunity
ISSN: 1476-5470
Titre abrégé: Genes Immun
Pays: England
ID NLM: 100953417
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
09
05
2020
accepted:
02
09
2020
revised:
14
08
2020
pubmed:
15
9
2020
medline:
13
8
2021
entrez:
14
9
2020
Statut:
ppublish
Résumé
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
Identifiants
pubmed: 32921793
doi: 10.1038/s41435-020-00111-7
pii: 10.1038/s41435-020-00111-7
doi:
Substances chimiques
IL2RG protein, human
0
Interleukin Receptor Common gamma Subunit
0
JAK3 protein, human
EC 2.7.10.2
Janus Kinase 3
EC 2.7.10.2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
326-334Références
Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625–55.
Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147–57.
Roberts JL, Lengi A, Brown SM, Chen M, Zhou YJ, O’Shea JJ, et al. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. 2004;103:2009–18.
O’Shea JJ, Notarangelo LD, Johnston JA, Candotti F. Advances in the understanding of cytokine signal transduction: the role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency. J Clin Immunol. 1997;17:431–47.
Rochman Y, Spolski R, Leonard WJ. New insights into the regulation of T cells by gamma(c) family cytokines. Nat Rev Immunol. 2009;9:480–90.
pubmed: 19543225
pmcid: 2814538
Manor U, Lev A, Simon AJ, Hutt D, Toren A, Bielorai B. Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients. Immunol Res. 2019;67:166–75.
Wahlstrom JT, Dvorak CC, Cowan MJ. Hematopoietic stem cell transplantation for severe combined immunodeficiency. Curr Pediatrics Rep. 2015;3:1–10.
Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99:872–8.
Lev A, Simon AJ, Bareket M, Bielorai B, Hutt D, Amariglio N, et al. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS ONE. 2012;7:e30494.
pubmed: 22295088
pmcid: 3266259
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754–60.
pubmed: 2705234
pmcid: 2705234
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
pubmed: 2928508
pmcid: 2928508
Li MX, Gui HS, Kwan JS, Bao SY, Sham PC. A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res. 2012;40:e53.
pubmed: 22241780
pmcid: 3326332
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol. 1990;215:403–10.
Berman HM, Westbrook J, Feng Z, Gilliland G, Bhat TN, Weissig H, et al. The Protein Data Bank. Nucleic Acids Res. 2000;28:235–42.
pubmed: 10592235
pmcid: 102472
Waterhouse A, Bertoni M, Bienert S, Studer G, Tauriello G, Gumienny R, et al. SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res. 2018;46:W296–303.
pubmed: 29788355
pmcid: 6030848
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575–6.
pubmed: 20676075
Bendl J, Stourac J, Salanda O, Pavelka A, Wieben ED, Zendulka J, et al. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLoS Comput Biol. 2014;10:e1003440.
pubmed: 24453961
pmcid: 3894168
Yachdav G, Kloppmann E, Kajan L, Hecht M, Goldberg T, Hamp T, et al. PredictProtein-an open resource for online prediction of protein structural and functional features. Nucleic Acids Res. 2014;42:W337–43.
pubmed: 24799431
pmcid: 24799431
Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, et al. Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood. 1997;90:3996–4003.
pubmed: 9354668
pmcid: 9354668
Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, et al. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum Mutat. 2001;18:255–63.
Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarstrom L. IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature. Allergy Asthma Clin Immunol. 2019;15:2.
pubmed: 30622570
pmcid: 6320602
Mou W, He J, Chen X, Zhang H, Ren X, Wu X, et al. A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype. Immunogenetics. 2017;69:29–38.
Somech R, Roifman CM. Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests. J Pediatr. 2005;147:555–7.
Liu CC, Perussia B, Young JD. The emerging role of IL-15 in NK-cell development. Immunol Today. 2000;21:113–6.
Li J, Nara H, Rahman M, Juliana FM, Araki A, Asao H. Impaired IL-7 signaling may explain a case of atypical JAK3-SCID. Cytokine. 2010;49:221–8.
Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48:124–31.
Faitelson Y, Grunebaum E. Hemophagocytic lymphohistiocytosis and primary immune deficiency disorders. Clin Immunol. 2014;155:118–25.
Chen TL, Wong WW, Chiou TJ. Hemophagocytic syndrome: an unusual manifestation of acute human immunodeficiency virus infection. Int J Hematol. 2003;78:450–2.
McClain K, Gehrz R, Grierson H, Purtilo D, Filipovich A. Virus-associated histiocytic proliferations in children. Frequent association with Epstein-Barr virus and congenital or acquired immunodeficiencies. Am J Pediatr Hematol/Oncol. 1988;10:196–205.
Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, et al. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica. 2015;100:978–88.
pubmed: 26022711
pmcid: 4486233
Malmberg KJ, Beziat V, Ljunggren HG. Spotlight on NKG2C and the human NK-cell response to CMV infection. Eur J Immunol. 2012;42:3141–5.
Beziat V, Sleiman M, Goodridge JP, Kaarbo M, Liu LL, Rollag H, et al. Polyclonal expansion of NKG2C(+) NK Cells in TAP-deficient patients. Front Immunol. 2015;6:507.
pubmed: 26500647
pmcid: 4594010
Farnault L, Chambost H, Michel G, Thuret I, de Saint Basile G, Fischer A, et al. Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency. J Allergy Clin Immunol. 2013;131:1230–3. 1233.e1-2.
Kuijpers TW, Baars PA, Dantin C, van den Burg M, van Lier RA, Roosnek E. Human NK cells can control CMV infection in the absence of T cells. Blood. 2008;112:914–5.
Wu Z, Subramanian N, Jacobsen EM, Laib Sampaio K, van der Merwe J, Honig M, et al. NK Cells from RAG- or DCLRE1C-deficient patients inhibit HCMV. Microorganisms. 2019;7:546.
Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014;133:1092–8.
de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Investig. 2005;115:3291–9.
Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, et al. A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Investig. 2005;115:3140–8.
Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018;132:89–100.
pubmed: 29632024
pmcid: 6034641
Sun J, Yang L, Lu Y, Wang H, Peng X, Dong X, et al. Screening for primary immunodeficiency diseases by next-generation sequencing in early life. Clin Transl Immunol. 2020;9:e1138.
Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, et al. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med. 2019;21:243–51.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. Jama. 2014;312:729–38.
pubmed: 25138334
pmcid: 4492158
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132:140–50.
pubmed: 23810098
pmcid: 3759317
Rechavi E, Lev A, Simon AJ, Stauber T, Daas S, Saraf-Levy T, et al. First year of Israeli newborn screening for severe combined immunodeficiency-clinical achievements and insights. Front Immunol. 2017;8:1448.
pubmed: 29167666
pmcid: 5682633
Broides A, Nahum A, Mandola AB, Rozner L, Pinsk V, Ling G, et al. Incidence of typically severe primary immunodeficiency diseases in consanguineous and non-consanguineous populations. J Clin Immunol. 2017;37:295–300.