{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:27:59Z","timestamp":1772497679600,"version":"3.50.1"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T00:00:00Z","timestamp":1714348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["299263"],"award-info":[{"award-number":["299263"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["299264"],"award-info":[{"award-number":["299264"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Immunogenetics"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1007\/s00251-024-01342-y","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T12:01:55Z","timestamp":1714392115000},"page":"189-202","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study"],"prefix":"10.1007","volume":"76","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1059-4565","authenticated-orcid":false,"given":"Razieh","family":"Khoshnevisan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5091-5191","authenticated-orcid":false,"given":"Shakiba","family":"Hassanzadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0956-0445","authenticated-orcid":false,"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2251-2387","authenticated-orcid":false,"given":"Meino","family":"Rohlfs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7892-8576","authenticated-orcid":false,"given":"Newsha","family":"Molavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aryana","family":"Zamanifar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Khoshnevisan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahbube","family":"Jafari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0876-0464","authenticated-orcid":false,"given":"Bahram","family":"Bagherpour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahdiyeh","family":"Behnam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5768-4402","authenticated-orcid":false,"given":"Somayeh","family":"Najafi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6745-8161","authenticated-orcid":false,"given":"Roya","family":"Sherkat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"1342_CR1","unstructured":"Abolhassani H, Parvaneh N, Rezaei N, Hammarstr\u00d6m L, Aghamohammadi A (2014) Genetic defects in B-cell development and their clinical consequences. J Investig Allergol Clin Immunol, 24, 6\u201322; quiz 2 p following 22"},{"key":"1342_CR2","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1126\/science.1243292","volume":"342","author":"I Angulo","year":"2013","unstructured":"Angulo I, Vadas O, Gar\u00e7on F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debr\u00e9 M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S (2013) Phosphoinositide 3-kinase \u03b4 gene mutation predisposes to respiratory infection and airway damage. Science 342:866\u2013871","journal-title":"Science"},{"key":"1342_CR3","doi-asserted-by":"publisher","first-page":"2271","DOI":"10.1084\/jem.20090756","volume":"206","author":"K Beck","year":"2009","unstructured":"Beck K, Peak MM, Ota T, Nemazee D, Murre C (2009) Distinct roles for E12 and E47 in B cell specification and the sequential rearrangement of immunoglobulin light chain loci. J Exp Med 206:2271\u20132284","journal-title":"J Exp Med"},{"key":"1342_CR4","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1016\/j.jaci.2017.04.037","volume":"140","author":"M Ben-Ali","year":"2017","unstructured":"Ben-Ali M, Yang J, Chan KW, Ben-Mustapha I, Mekki N, Benabdesselem C, Mellouli F, Bejaoui M, Yang W, Aissaoui L, Lau YL, Barbouche MR (2017) Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia. J Allergy Clin Immunol 140:1191-1194.e4","journal-title":"J Allergy Clin Immunol"},{"key":"1342_CR5","doi-asserted-by":"publisher","first-page":"4781","DOI":"10.1172\/JCI71927","volume":"123","author":"B Boisson","year":"2013","unstructured":"Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T, Tangye SG, Casanova JL, Conley ME (2013) A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. J Clin Invest 123:4781\u20134785","journal-title":"J Clin Invest"},{"key":"1342_CR6","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s10875-017-0465-8","volume":"38","author":"A Bousfiha","year":"2018","unstructured":"Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE (2018) The 2017 IUIS Phenotypic Classification for primary immunodeficiencies. J Clin Immunol 38:129\u2013143","journal-title":"J Clin Immunol"},{"key":"1342_CR7","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1080\/1744666X.2018.1413349","volume":"14","author":"E Carrillo-Tapia","year":"2018","unstructured":"Carrillo-Tapia E, Garc\u00eda-Garc\u00eda E, Herrera-Gonz\u00e1lez NE, Yamazaki-Nakashimada MA, Staines-Boone AT, Segura-Mendez NH, Scheffler-Mendoza SC, P, O. F.-R., Gonzalez-serrano, M. E., Rodriguez-alba, J. C., Santos-argumedo, L., Berron-ruiz, L., Sanchez-flores, A. & L\u00f3pez-herrera, G. (2018) Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. Expert Rev Clin Immunol 14:83\u201393","journal-title":"Expert Rev Clin Immunol"},{"key":"1342_CR8","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1097\/00129039-200106000-00001","volume":"9","author":"PG Chu","year":"2001","unstructured":"Chu PG, Arber DA (2001) CD79: a review. Appl Immunohistochem Mol Morphol 9:97\u2013106","journal-title":"Appl Immunohistochem Mol Morphol"},{"key":"1342_CR9","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (austin) 6:80\u201392","journal-title":"Fly (austin)"},{"key":"1342_CR10","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1067\/mpd.2002.127711","volume":"141","author":"ME Conley","year":"2002","unstructured":"Conley ME, Howard V (2002) Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 141:566\u2013571","journal-title":"J Pediatr"},{"key":"1342_CR11","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1007\/s10875-014-0012-9","volume":"34","author":"MC Crank","year":"2014","unstructured":"Crank MC, Grossman JK, Moir S, Pittaluga S, Buckner CM, Kardava L, Agharahimi A, Meuwissen H, Stoddard J, Niemela J, Kuehn H, Rosenzweig SD (2014) Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol 34:272\u2013276","journal-title":"J Clin Immunol"},{"key":"1342_CR12","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1002\/eji.201242497","volume":"42","author":"LM D\u2019Cruz","year":"2012","unstructured":"D\u2019Cruz LM, Lind KC, Wu BB, Fujimoto JK, Goldrath AW (2012) Loss of E protein transcription factors E2A and HEB delays memory-precursor formation during the CD8+ T-cell immune response. Eur J Immunol 42:2031\u20132041","journal-title":"Eur J Immunol"},{"key":"1342_CR13","doi-asserted-by":"publisher","first-page":"1032","DOI":"10.1016\/j.jaci.2016.08.028","volume":"139","author":"AE Dulau Florea","year":"2017","unstructured":"Dulau Florea AE, Braylan RC, Schafernak KT, Williams KW, Daub J, Goyal RK, Puck JM, Rao VK, Pittaluga S, Holland SM, Uzel G, Calvo KR (2017) Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD. J Allergy Clin Immunol 139:1032-1035.e6","journal-title":"J Allergy Clin Immunol"},{"key":"1342_CR14","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1038\/sj.gene.6364391","volume":"8","author":"S Ferrari","year":"2007","unstructured":"Ferrari S, Zuntini R, Lougaris V, Soresina A, Sourkov\u00e1 V, Fiorini M, Martino S, Rossi P, Pietrogrande MC, Martire B, Spadaro G, Cardinale F, Cossu F, Pierani P, Quinti I, Rossi C, Plebani A (2007) Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun 8:325\u2013333","journal-title":"Genes Immun"},{"key":"1342_CR15","doi-asserted-by":"publisher","first-page":"7913","DOI":"10.4049\/jimmunol.177.11.7913","volume":"177","author":"EM Fuentes-Panan\u00e1","year":"2006","unstructured":"Fuentes-Panan\u00e1 EM, Bannish G, Karnell FG, Treml JF, Monroe JG (2006) Analysis of the individual contributions of Igalpha (CD79a)- and Igbeta (CD79b)-mediated tonic signaling for bone marrow B cell development and peripheral B cell maturation. J Immunol 177:7913\u20137922","journal-title":"J Immunol"},{"key":"1342_CR16","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1046\/j.1365-2249.2000.01192.x","volume":"119","author":"HB Gaspar","year":"2000","unstructured":"Gaspar HB, Conley ME (2000) Early B cell defects. Clin Exp Immunol 119:383\u2013389","journal-title":"Clin Exp Immunol"},{"key":"1342_CR17","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1038\/nri2491","volume":"9","author":"S Herzog","year":"2009","unstructured":"Herzog S, Reth M, Jumaa H (2009) Regulation of B-cell proliferation and differentiation by pre-B-cell receptor signalling. Nat Rev Immunol 9:195\u2013205","journal-title":"Nat Rev Immunol"},{"key":"1342_CR18","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1007\/s10875-014-9989-3","volume":"34","author":"A Khalili","year":"2014","unstructured":"Khalili A, Plebani A, Vitali M, Abolhassani H, Lougaris V, Mirminachi B, Rezaei N, Aghamohammadi A (2014) Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. J Clin Immunol 34:138\u2013141","journal-title":"J Clin Immunol"},{"key":"1342_CR19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jctube.2019.100123","volume":"17","author":"R Khoshnevisan","year":"2019","unstructured":"Khoshnevisan R, Nekooei-Marnany N, Klein C, Kotlarz D, Behnam M, Ostadi V, Yaran M, Rezaei A, Sherkat R (2019) IL-12R\u03b21 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn\u2019s disease. J Clin Tuberc Other Mycobact Dis 17:100123","journal-title":"J Clin Tuberc Other Mycobact Dis"},{"key":"1342_CR20","doi-asserted-by":"publisher","first-page":"3784","DOI":"10.1172\/JCI92931","volume":"127","author":"N Koyanagi","year":"2017","unstructured":"Koyanagi N, Imai T, Shindo K, Sato A, Fujii W, Ichinohe T, Takemura N, Kakuta S, Uematsu S, Kiyono H, Maruzuru Y, Arii J, Kato A, Kawaguchi Y (2017) Herpes simplex virus-1 evasion of CD8+ T cell accumulation contributes to viral encephalitis. J Clin Invest 127:3784\u20133795","journal-title":"J Clin Invest"},{"key":"1342_CR21","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/s10875-017-0474-7","volume":"38","author":"JD Langereis","year":"2018","unstructured":"Langereis JD, Henriet SS, Kuipers S, Weemaes CMR, van der Burg M, de Jonge MI, van der Flier M (2018) IgM augments complement bactericidal activity with serum from a patient with a novel CD79a mutation. J Clin Immunol 38:185\u2013192","journal-title":"J Clin Immunol"},{"key":"1342_CR22","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760","journal-title":"Bioinformatics"},{"key":"1342_CR23","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1172\/JCI0215658","volume":"110","author":"E Lopez Granados","year":"2002","unstructured":"Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, Smith CI, Hammarstrom L, Bjorkander J, Belohradsky BH, Casariego GF, Rodriguez G, Conley ME (2002) Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest 110:1029\u20131035","journal-title":"J Clin Invest"},{"key":"1342_CR24","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, Depristo MA (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303","journal-title":"Genome Res"},{"key":"1342_CR25","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/s00431-002-0994-9","volume":"161","author":"M Milili","year":"2002","unstructured":"Milili M, Antunes H, Blanco-Betancourt C, Nogueiras A, Santos E, Vasconcelos J, e Melo J, Schiff C, (2002) A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur J Pediatr 161:479\u2013484","journal-title":"Eur J Pediatr"},{"key":"1342_CR26","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1172\/JCI7696","volume":"104","author":"Y Minegishi","year":"1999","unstructured":"Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conley ME (1999) Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Invest 104:1115\u20131121","journal-title":"J Clin Invest"},{"key":"1342_CR27","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1111\/j.1600-065X.2008.00741.x","volume":"228","author":"AJ Mohamed","year":"2009","unstructured":"Mohamed AJ, Yu L, B\u00e4ckesj\u00f6 CM, Vargas L, Faryal R, Aints A, Christensson B, Bergl\u00f6f A, Vihinen M, Nore BF, Smith CI (2009) Bruton\u2019s tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain. Immunol Rev 228:58\u201373","journal-title":"Immunol Rev"},{"key":"1342_CR28","doi-asserted-by":"publisher","first-page":"2399","DOI":"10.1016\/j.ijbiomac.2020.08.057","volume":"164","author":"T Mohammad","year":"2020","unstructured":"Mohammad T, Amir M, Prasad K, Batra S, Kumar V, Hussain A, Rehman MT, Alajmi MF, Hassan MI (2020) Impact of amino acid substitution in the kinase domain of Bruton tyrosine kinase and its association with X-linked agammaglobulinemia. Int J Biol Macromol 164:2399\u20132408","journal-title":"Int J Biol Macromol"},{"key":"1342_CR29","first-page":"78","volume":"22","author":"I Mohammadzadeh","year":"2012","unstructured":"Mohammadzadeh I, Yeganeh M, Aghamohammadi A, Parvaneh N, Behniafard N, Abolhassani H, Tabassomi F, Hemmat M, Kanegane H, Miyawaki T, Ohara O, Rezaei N (2012) Severe primary antibody deficiency due to a novel mutation of mu heavy chain. J Investig Allergol Clin Immunol 22:78\u201379","journal-title":"J Investig Allergol Clin Immunol"},{"key":"1342_CR30","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1081\/IMM-120027687","volume":"33","author":"M Moin","year":"2004","unstructured":"Moin M, Aghamohammadi A, Farhoudi A, Pourpak Z, Rezaei N, Movahedi M, Gharagozlou M, Ghazi BM, Zahed A, Abolmaali K, Mahmoudi M, Emami L, Bashashati M (2004) X-linked agammaglobulinemia: a survey of 33 Iranian patients. Immunol Invest 33:81\u201393","journal-title":"Immunol Invest"},{"key":"1342_CR31","doi-asserted-by":"publisher","DOI":"10.1016\/j.jim.2023.113485","volume":"519","author":"NANDIWADA, S. L.","year":"2023","unstructured":"Nandiwada, S. L. (2023) Overview of human B-cell development and antibody deficiencies. J Immunol Methods 519:113485","journal-title":"J Immunol Methods"},{"key":"1342_CR32","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1007\/s11882-004-0082-5","volume":"4","author":"HD Ochs","year":"2004","unstructured":"Ochs HD, Notarangelo LD (2004) X-linked immunodeficiencies. Curr Allergy Asthma Rep 4:339\u2013348","journal-title":"Curr Allergy Asthma Rep"},{"key":"1342_CR33","doi-asserted-by":"publisher","first-page":"2100","DOI":"10.4049\/jimmunol.2000584","volume":"205","author":"K Ottens","year":"2020","unstructured":"Ottens K, Schneider J, Kane LP, Satterthwaite AB (2020) PIK3IP1 promotes extrafollicular class switching in T-dependent immune responses. J Immunol 205:2100\u20132108","journal-title":"J Immunol"},{"key":"1342_CR34","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.2174\/1871530320666200508114349","volume":"20","author":"S Pashangzadeh","year":"2020","unstructured":"Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A (2020) Agammaglobulinemia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. Endocr Metab Immune Disord Drug Targets 20:1434\u20131447","journal-title":"Endocr Metab Immune Disord Drug Targets"},{"issue":"Suppl 24","key":"1342_CR35","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/pai.13166","volume":"31","author":"A Plebani","year":"2020","unstructured":"Plebani A, Palumbo L, Dotta L, Lougaris V (2020) Diagnostic approach of hypogammaglobulinemia in infancy. Pediatr Allergy Immunol 31(Suppl 24):11\u201312","journal-title":"Pediatr Allergy Immunol"},{"key":"1342_CR36","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.clim.2018.07.016","volume":"198","author":"S Qureshi","year":"2019","unstructured":"Qureshi S, Sheikh MDA, Qamar FN (2019) Autosomal recessive agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan. Clin Immunol 198:100\u2013101","journal-title":"Clin Immunol"},{"key":"1342_CR37","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"1342_CR38","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1038\/ni.3575","volume":"17","author":"E Salzer","year":"2016","unstructured":"Salzer E, Cagdas D, Hons M, Mace EM, Garncarz W, Petronczki \u00d6Y, Platzer R, Pfajfer L, Bilic I, Ban SA, Willmann KL, Mukherjee M, Supper V, Hsu HT, Banerjee PP, Sinha P, Mcclanahan F, Zlabinger GJ, Pickl WF, Gribben JG, Stockinger H, Bennett KL, Huppa JB, Dupr\u00e9 L, Sanal \u00d6, J\u00e4ger U, Sixt M, Tezcan I, Orange JS, Boztug K (2016) RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nat Immunol 17:1352\u20131360","journal-title":"Nat Immunol"},{"key":"1342_CR39","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/gene.2009.70","volume":"10","author":"N Shulzhenko","year":"2009","unstructured":"Shulzhenko N, Morgun A, Matzinger P (2009) Spontaneous mutation in the Cd79b gene leads to a block in B-lymphocyte development at the C\u2019 (early pre-B) stage. Genes Immun 10:722\u2013726","journal-title":"Genes Immun"},{"key":"1342_CR40","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1038\/gene.2017.14","volume":"18","author":"P Silva","year":"2017","unstructured":"Silva P, Justicia A, Regueiro A, Fari\u00f1a S, Couselo JM, Loidi L (2017) Autosomal recessive agammaglobulinemia due to defect in \u03bc heavy chain caused by a novel mutation in the IGHM gene. Genes Immun 18:197\u2013199","journal-title":"Genes Immun"},{"key":"1342_CR41","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1007\/s10875-018-0533-8","volume":"38","author":"I Somekh","year":"2018","unstructured":"Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenska-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R (2018) Novel mutations in RASGRP1 are associated with immunodeficiency, immune dysregulation, and EBV-induced lymphoma. J Clin Immunol 38:699\u2013710","journal-title":"J Clin Immunol"},{"key":"1342_CR42","doi-asserted-by":"publisher","first-page":"W446","DOI":"10.1093\/nar\/gkab266","volume":"49","author":"R Steinhaus","year":"2021","unstructured":"Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D (2021) MutationTaster2021. Nucleic Acids Res 49:W446-w451","journal-title":"Nucleic Acids Res"},{"key":"1342_CR43","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1007\/s11882-001-0065-8","volume":"1","author":"DM Stewart","year":"2001","unstructured":"Stewart DM, Lian L, Nelson DL (2001) The clinical spectrum of Bruton\u2019s agammaglobulinemia. Curr Allergy Asthma Rep 1:558\u2013565","journal-title":"Curr Allergy Asthma Rep"},{"key":"1342_CR44","doi-asserted-by":"publisher","first-page":"2725","DOI":"10.1093\/molbev\/mst197","volume":"30","author":"K Tamura","year":"2013","unstructured":"Tamura K, Stecher G, Peterson D, Filipski A, Kumar S (2013) MEGA6: Molecular evolutionary genetics analysis version 6.0. Mol Biol Evol 30:2725\u20132729","journal-title":"Mol Biol Evol"},{"key":"1342_CR45","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1038\/leu.2012.293","volume":"27","author":"E Tijchon","year":"2013","unstructured":"Tijchon E, Havinga J, van Leeuwen FN, Scheijen B (2013) B-lineage transcription factors and cooperating gene lesions required for leukemia development. Leukemia 27:541\u2013552","journal-title":"Leukemia"},{"key":"1342_CR46","doi-asserted-by":"publisher","first-page":"1592","DOI":"10.1093\/bioinformatics\/btw046","volume":"32","author":"MD Vigeland","year":"2016","unstructured":"Vigeland MD, Gj\u00f8tterud KS, Selmer KK (2016) FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector. Bioinformatics 32:1592\u20131594","journal-title":"Bioinformatics"},{"key":"1342_CR47","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1111\/j.1600-065X.2010.00934.x","volume":"237","author":"M Werner","year":"2010","unstructured":"Werner M, Hobeika E, Jumaa H (2010) Role of PI3K in the generation and survival of B cells. Immunol Rev 237:55\u201371","journal-title":"Immunol Rev"},{"key":"1342_CR48","doi-asserted-by":"publisher","first-page":"2485","DOI":"10.1084\/jem.20180617","volume":"215","author":"MN Wray-Dutra","year":"2018","unstructured":"Wray-Dutra MN, Al Qureshah F, Metzler G, Oukka M, James RG, Rawlings DJ (2018) Activated PIK3CD drives innate B cell expansion yet limits B cell-intrinsic immune responses. J Exp Med 215:2485\u20132496","journal-title":"J Exp Med"}],"container-title":["Immunogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00251-024-01342-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00251-024-01342-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00251-024-01342-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T08:02:09Z","timestamp":1715328129000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00251-024-01342-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,29]]},"references-count":48,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["1342"],"URL":"https:\/\/doi.org\/10.1007\/s00251-024-01342-y","relation":{},"ISSN":["0093-7711","1432-1211"],"issn-type":[{"value":"0093-7711","type":"print"},{"value":"1432-1211","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,29]]},"assertion":[{"value":"9 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 April 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Review Board of Immunodeficiency Diseases Research Center (code no: IR.MUI.MED.REC.1399.1190). Written informed consent was obtained from all of the participants in the study, and a written consent to participate was obtained from the parents of the patient (younger than the age of 16).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of clinical details and clinical images was obtained from all of the participants and from the parents of participants under the age of 18.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}