{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T19:50:27Z","timestamp":1793303427558,"version":"4.5.0"},"reference-count":58,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T00:00:00Z","timestamp":1625788800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T00:00:00Z","timestamp":1625788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clinic Rev Allerg Immunol"],"DOI":"10.1007\/s12016-021-08870-5","type":"journal-article","created":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T11:02:46Z","timestamp":1625828566000},"page":"22-35","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Agammaglobulinemia: from X-linked to Autosomal Forms of Disease"],"prefix":"10.1007","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7151-1401","authenticated-orcid":false,"given":"Melissa","family":"Cardenas-Morales","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian P.","family":"Hernandez-Trujillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,9]]},"reference":[{"issue":"3","key":"8870_CR1","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1046\/j.1365-2249.2000.01192.x.PMID:10691907;PMCID:PMC1905597","volume":"119","author":"HB Gaspar","year":"2000","unstructured":"Gaspar HB, Conley ME (2000) Early B cell defects. Clin Exp Immunol 119(3):383\u2013389.\u00a0https:\/\/doi.org\/10.1046\/j.1365-2249.2000.01192.x. PMID:10691907; PMCID: PMC1905597","journal-title":"Clin Exp Immunol"},{"key":"8870_CR2","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1146\/annurev.immunol.021908.132649","volume":"27","author":"ME Conley","year":"2009","unstructured":"Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, Coustan-Smith E, Howard V, Campana D (2009) Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol 27:199\u2013227. https:\/\/doi.org\/10.1146\/annurev.immunol.021908.132649. PMID: 19302039","journal-title":"Annu Rev Immunol"},{"issue":"3","key":"8870_CR3","doi-asserted-by":"publisher","DOI":"10.1016\/j.waojou.2019.100018.PMID:30937141;PMCID:PMC6439403","volume":"12","author":"ZA El-Sayed","year":"2019","unstructured":"El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, Bousfiha AA, Cancrini C, Condino-Neto A, Dbaibo G, Derfalvi B, Dogu F, Edgar JDM, Eley B, El-Owaidy RH, Espinosa-Padilla SE, Galal N, Haerynck F, Hanna-Wakim R, Hossny E, Ikinciogullari A, Kamal E, Kanegane H, Kechout N, Lau YL, Morio T, Moschese V, Neves JF, Ouederni M, Paganelli R, Paris K, Pignata C, Plebani A, Qamar FN, Qureshi S, Radhakrishnan N, Rezaei N, Rosario N, Routes J, Sanchez B, Sediva A, Seppanen MR, Serrano EG, Shcherbina A, Singh S, Siniah S, Spadaro G, Tang M, Vinet AM, Volokha A, Sullivan KE (2019) X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J 12(3):100018.\u00a0https:\/\/doi.org\/10.1016\/j.waojou.2019.100018. PMID:30937141; PMCID:PMC6439403\u00a0","journal-title":"World Allergy Organ J"},{"key":"8870_CR4","unstructured":"Hernandez-Trujillo, VP (2021) Agammaglobulinemia. In: UpToDate, Post, TW (Ed), UpToDate,\u00a0Waltham, MA"},{"issue":"4","key":"8870_CR5","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1016\/j.anai.2016.07.038","volume":"117","author":"KT Gemayel","year":"2016","unstructured":"Gemayel KT, Litman GW, Sriaroon P (2016) Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation. Ann Allergy Asthma Immunol 117(4):439\u2013441. https:\/\/doi.org\/10.1016\/j.anai.2016.07.038. Epub 2016 Aug 27 PMID: 27576013","journal-title":"Ann Allergy Asthma Immunol"},{"key":"8870_CR6","doi-asserted-by":"publisher","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, O Farrill-Romanillos P, Gonzalez-Serrano ME, Rodriguez-Alba JC, Santos-Argumedo L, Berron-Ruiz L, Sanchez-Flores A, L\u00f3pez-Herrera G\u00a0(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(1):83\u201393.\u00a0https:\/\/doi.org\/10.1080\/1744666X.2018.1413349. Epub 2017 Dec 11. PMID: 29202590","DOI":"10.1080\/1744666X.2018.1413349"},{"key":"8870_CR7","unstructured":"Smith CIE, Bergl\u00f6f A. X-Linked Agammaglobulinemia (2001)\u00a0[Updated 2016 Aug 4]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132021"},{"key":"8870_CR8","doi-asserted-by":"publisher","unstructured":"Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, Cazzola G, Consolini R, De Mattia D, Dell'Erba G, Duse M, Fiorini M, Martino S, Martire B, Masi M, Monafo V, Moschese V, Notarangelo LD, Orlandi P, Panei P, Pession A, Pietrogrande MC, Pignata C, Quinti I, Ragno V, Rossi P, Sciotto A (2002) Stabile A; Italian Pediatric Group for XLA-AIEOP. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol\u00a0104(3):221\u201330.\u00a0https:\/\/doi.org\/10.1006\/clim.2002.5241. PMID: 12217331","DOI":"10.1006\/clim.2002.5241"},{"issue":"2","key":"8870_CR9","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.jaci.2020.03.001","volume":"146","author":"V Lougaris","year":"2020","unstructured":"Lougaris V, Soresina A, Baronio M, Montin D, Martino S, Signa S, Volpi S, Zecca M, Marinoni M, Baselli LA, Dellepiane RM, Carrabba M, Fabio G, Putti MC, Cinetto F, Lunardi C, Gazzurelli L, Benvenuto A, Bertolini P, Conti F, Consolini R, Ricci S, Azzari C, Leonardi L, Duse M, Pulvirenti F, Milito C, Quinti I, Cancrini C, Finocchi A, Moschese V, Cirillo E, Crescenzi L, Spadaro G, Marasco C, Vacca A, Cardinale F, Martire B, Trizzino A, Licciardello M, Cossu F, Di Matteo G, Badolato R, Ferrari S, Giliani S, Pession A, Ugazio A, Pignata C, Plebani A (2020) Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality. J Allergy Clin Immunol 146(2):429\u2013437.\u00a0https:\/\/doi.org\/10.1016\/j.jaci.2020.03.001.\u00a0Epub 2020 Mar 10 PMID: 32169379","journal-title":"J Allergy Clin Immunol"},{"issue":"10","key":"8870_CR10","doi-asserted-by":"publisher","first-page":"2140","DOI":"10.1016\/j.molimm.2009.03.012","volume":"46","author":"B T\u00f3th","year":"2009","unstructured":"T\u00f3th B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, M\u00e1rton G, Nagy K, D\u00e9rfalvi B, Szolnoky M, Kalm\u00e1r A, Belevtsev M, Guseva M, Rugina A, Kriv\u00e1n G, Tim\u00e1r L, Nyul Z, Mosd\u00f3si B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Mar\u00f3di L (2009) Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. Mol Immunol 46(10):2140\u20132146.\u00a0https:\/\/doi.org\/10.1016\/j.molimm.2009.03.012. Epub 2009 May 5 PMID: 19419768","journal-title":"Mol Immunol"},{"issue":"4","key":"8870_CR11","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1097\/01.md.0000229482.27398.ad","volume":"85","author":"JA Winkelstein","year":"2006","unstructured":"Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD (2006) X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 85(4):193\u2013202. https:\/\/doi.org\/10.1097\/01.md.0000229482.27398.ad.\u00a0PMID: 16862044","journal-title":"Medicine (Baltimore)"},{"issue":"32","key":"8870_CR12","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000004544.PMID:27512878;PMCID:PMC4985333","volume":"95","author":"XF Chen","year":"2016","unstructured":"Chen XF, Wang WF, Zhang YD, Zhao W, Wu J, Chen TX (2016) Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000\u20132015). Medicine (Baltimore) 95(32):e4544.\u00a0https:\/\/doi.org\/10.1097\/MD.0000000000004544. PMID:27512878; PMCID:PMC4985333","journal-title":"Medicine (Baltimore)"},{"key":"8870_CR13","doi-asserted-by":"publisher","unstructured":"Groth D, Wright H, Marsh R, Fuleihan R, Cunningham-Rundles C, Sullivan K, Feuille E\u00a0(2020) X-linked agammaglobulinemia: infection frequencies in 226 patients from the USIDNET Registry. J Allergy Clin Immunol 145(2):AB80. ISSN 0091\u20136749.\u00a0https:\/\/doi.org\/10.1016\/j.jaci.2019.12.676. (https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0091674919323784)","DOI":"10.1016\/j.jaci.2019.12.676"},{"key":"8870_CR14","doi-asserted-by":"publisher","unstructured":"L\u00f3pez-Granados E, P\u00e9rez de Diego R, Ferreira Cerd\u00e1n A, Font\u00e1n Casariego G, Garc\u00eda Rodr\u00edguez MC (2005) A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. J Allergy Clin Immunol\u00a0116(3):690\u20137.\u00a0https:\/\/doi.org\/10.1016\/j.jaci.2005.04.043. PMID: 16159644","DOI":"10.1016\/j.jaci.2005.04.043"},{"issue":"4","key":"8870_CR15","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(4):566\u2013571. https:\/\/doi.org\/10.1067\/mpd.2002.127711. PMID: 12378199","journal-title":"J Pediatr"},{"issue":"6","key":"8870_CR16","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1002\/1098-1004(200012)16:6<528::AID-HUMU12>3.0.CO;2-T","volume":"16","author":"L Tao","year":"2000","unstructured":"Tao L, Boyd M, Gonye G, Malone B, Schwaber J (2000) BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations. Hum Mutat 16(6):528\u2013529.\u00a0https:\/\/doi.org\/10.1002\/1098-1004(200012)16:6%3c528::AID-HUMU12%3e3.0.CO;2-T.\u00a0PMID: 11102984","journal-title":"Hum Mutat"},{"key":"8870_CR17","doi-asserted-by":"publisher","unstructured":"Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE (2017 ) Gastrointestinal manifestations in X-linked agammaglobulinemia. J Clin Immunol\u00a037(3):287\u2013294.\u00a0https:\/\/doi.org\/10.1007\/s10875-017-0374-x. Epub 2017 Feb 24. PMID: 28236219; PMCID: PMC5414010","DOI":"10.1007\/s10875-017-0374-x"},{"issue":"4","key":"8870_CR18","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/j.anai.2016.07.044","volume":"117","author":"S Singh","year":"2016","unstructured":"Singh S, Rawat A, Suri D, Gupta A, Garg R, Saikia B, Minz RW, Sehgal S, Chan KW, Lau YL, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O (2016) X-linked agammaglobulinemia: twenty years of single-center experience from North West India. Ann Allergy Asthma Immunol 117(4):405\u2013411. https:\/\/doi.org\/10.1016\/j.anai.2016.07.044. Epub 2016 Sep 1 PMID: 27593100","journal-title":"Ann Allergy Asthma Immunol"},{"key":"8870_CR19","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1111\/j.0105-2896.2005.00233.x","volume":"203","author":"ME Conley","year":"2005","unstructured":"Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, Shurtleff SA (2005) Genetic analysis of patients with defects in early B-cell development. Immunol Rev 203:216\u2013234. https:\/\/doi.org\/10.1111\/j.0105-2896.2005.00233.x. PMID: 15661032","journal-title":"Immunol Rev"},{"key":"8870_CR20","doi-asserted-by":"publisher","unstructured":"Smith T, Cunningham-Rundles C (2019) Primary B-cell immunodeficiencies. Hum Immunol 80(6):351\u2013362. https:\/\/doi.org\/10.1016\/j.humimm.2018.10.015. Epub 2018 Oct 22. PMID: 30359632; PMCID: PMC7395616","DOI":"10.1016\/j.humimm.2018.10.015"},{"issue":"3","key":"8870_CR21","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(3):197\u2013199.\u00a0https:\/\/doi.org\/10.1038\/gene.2017.14.\u00a0Epub 2017 Aug 3 PMID: 28769069","journal-title":"Genes Immun"},{"key":"8870_CR22","doi-asserted-by":"publisher","unstructured":"Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME (1998) Mutations in the human lambda5\/14.1 gene result in B cell deficiency and agammaglobulinemia.\u00a0J Exp Med\u00a0187(1):71\u201377.\u00a0https:\/\/doi.org\/10.1084\/jem.187.1.71","DOI":"10.1084\/jem.187.1.71"},{"issue":"8","key":"8870_CR23","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(8):1115\u20131121. https:\/\/doi.org\/10.1172\/JCI7696","journal-title":"J Clin Invest"},{"issue":"4","key":"8870_CR24","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.4049\/jimmunol.179.4.2055","volume":"179","author":"AK Dobbs","year":"2007","unstructured":"Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME (2007) Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J Immunol 179(4):2055\u20132059.\u00a0https:\/\/doi.org\/10.4049\/jimmunol.179.4.2055. PMID: 17675462","journal-title":"J Immunol"},{"issue":"2","key":"8870_CR25","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(2):138\u2013141.\u00a0https:\/\/doi.org\/10.1007\/s10875-014-9989-3. Epub 2014 Feb 1 PMID: 24481606","journal-title":"J Clin Immunol"},{"key":"8870_CR26","doi-asserted-by":"publisher","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(2):185\u2013192. https:\/\/doi.org\/10.1007\/s10875-017-0474-7. Epub 2018 Jan 15. PMID: 29335801; PMCID: PMC5840230","DOI":"10.1007\/s10875-017-0474-7"},{"issue":"9","key":"8870_CR27","doi-asserted-by":"publisher","first-page":"2047","DOI":"10.1084\/jem.20070264","volume":"204","author":"S Ferrari","year":"2007","unstructured":"Ferrari S, Lougaris V, Caraffi S et al (2007) Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med 204(9):2047\u20132051. https:\/\/doi.org\/10.1084\/jem.20070264","journal-title":"J Exp Med"},{"issue":"4","key":"8870_CR28","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1007\/s10875-014-0033-4","volume":"34","author":"V Lougaris","year":"2014","unstructured":"Lougaris V, Vitali M, Baronio M, Moratto D, Tampella G, Biasini A, Badolato R, Plebani A (2014) Autosomal recessive agammaglobulinemia: the third case of Ig\u03b2 deficiency due to a novel non-sense mutation. J Clin Immunol 34(4):425\u2013427.\u00a0https:\/\/doi.org\/10.1007\/s10875-014-0033-4. Epub 2014 Apr 11 PMID: 24722855","journal-title":"J Clin Immunol"},{"key":"8870_CR29","doi-asserted-by":"publisher","first-page":"1954","DOI":"10.1126\/science.286.5446.1954","volume":"286","author":"Y Minegishi","year":"1999","unstructured":"Minegishi Y, Rohrer J, Coustan-Smith E, Lederman HM, Pappu R, Campana D, Chan AC, Conley ME (1999) An essential role for BLNK in human B cell development. Science 286:1954\u20131957","journal-title":"Science"},{"issue":"1","key":"8870_CR30","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.jaci.2013.12.1083","volume":"134","author":"C Lagresle-Peyrou","year":"2014","unstructured":"Lagresle-Peyrou C, Millili M, Luce S, Boned A, Sadek H, Rouiller J, Frange P, Cros G, Cavazzana M, Andr\u00e9-Schmutz I, Schiff C (2014) The BLNK adaptor protein has a nonredundant role in human B-cell differentiation. J Allergy Clin Immunol 134(1):145\u2013154.\u00a0https:\/\/doi.org\/10.1016\/j.jaci.2013.12.1083. Epub 2014 Feb 28 PMID: 24582315","journal-title":"J Allergy Clin Immunol"},{"key":"8870_CR31","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.ajhg.2007.10.011","volume":"82","author":"MC van Zelm","year":"2008","unstructured":"van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME et al (2008) Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am J Hum Genet 82:320\u2013332","journal-title":"Am J Hum Genet"},{"issue":"1","key":"8870_CR32","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1007\/s10875-017-0462-y","volume":"38","author":"P Tang","year":"2018","unstructured":"Tang P, Upton JEM, Barton-Forbes MA, Salvadori MI, Clynick MP, Price AK, Goobie SL (2018) Autosomal recessive agammaglobulinemia due to a homozygous mutation in PIK3R1. J Clin Immunol 38(1):88\u201395.\u00a0https:\/\/doi.org\/10.1007\/s10875-017-0462-y.\u00a0Epub 2017 Nov 25 PMID: 29178053","journal-title":"J Clin Immunol"},{"issue":"5","key":"8870_CR33","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.1016\/j.jaci.2019.03.017","volume":"143","author":"CJ Nunes-Santos","year":"2019","unstructured":"Nunes-Santos CJ, Uzel G, Rosenzweig SD (2019) PI3K pathway defects leading to immunodeficiency and immune dysregulation. J Allergy Clin Immunol 143(5):1676\u20131687.\u00a0https:\/\/doi.org\/10.1016\/j.jaci.2019.03.017.\u00a0PMID: 31060715","journal-title":"J Allergy Clin Immunol"},{"key":"8870_CR34","doi-asserted-by":"publisher","unstructured":"Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, Smith AM, Perez EE, Murray PJ (2012) Agammaglobulinemia and absent B lineage cells in a patient lacking the p85\u03b1 subunit of PI3K. J Exp Med 209(3):463\u201370. https:\/\/doi.org\/10.1084\/jem.20112533. Epub 2012 Feb 20. PMID: 22351933; PMCID: PMC3302225","DOI":"10.1084\/jem.20112533"},{"key":"8870_CR35","doi-asserted-by":"publisher","unstructured":"Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S (2019) An essential role for the Zn2+\u00a0transporter ZIP7 in B cell development. Nat Immunol 20(3):350\u2013361.\u00a0https:\/\/doi.org\/10.1038\/s41590-018-0295-8. Epub 2019 Feb 4. PMID: 30718914; PMCID: PMC6561116.","DOI":"10.1038\/s41590-018-0295-8"},{"issue":"11","key":"8870_CR36","doi-asserted-by":"publisher","first-page":"1707","DOI":"10.1172\/JCI18937.PMID:14660746;PMCID:PMC281644","volume":"112","author":"A Sawada","year":"2003","unstructured":"Sawada A, Takihara Y, Kim JY, Matsuda-Hashii Y, Tokimasa S, Fujisaki H, Kubota K, Endo H, Onodera T, Ohta H, Ozono K, Hara J (2003) A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Invest 112(11):1707\u20131713.\u00a0https:\/\/doi.org\/10.1172\/JCI18937. PMID:14660746; PMCID:PMC281644","journal-title":"J Clin Invest"},{"key":"8870_CR37","doi-asserted-by":"publisher","first-page":"3644","DOI":"10.1038\/s41467-019-11570-6","volume":"10","author":"L Broderick","year":"2019","unstructured":"Broderick L, Yost S, Li D et al (2019) Mutations in topoisomerase II\u03b2 result in a B cell immunodeficiency. Nat Commun 10:3644. https:\/\/doi.org\/10.1038\/s41467-019-11570-6","journal-title":"Nat Commun"},{"issue":"11","key":"8870_CR38","doi-asserted-by":"publisher","first-page":"4781","DOI":"10.1172\/JCI71927.PMID:24216514;PMCID:PMC3809807","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(11):4781\u20134785. https:\/\/doi.org\/10.1172\/JCI71927. PMID: 24216514; PMCID: PMC3809807","journal-title":"J Clin Invest"},{"key":"8870_CR39","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\u2014first case with a novel TCF3 mutation from Pakistan. Clin Immunol 198:100\u2013101.\u00a0https:\/\/doi.org\/10.1016\/j.clim.2018.07.016. Epub 2018 Jul 29 PMID: 30063982","journal-title":"Clin Immunol"},{"key":"8870_CR40","doi-asserted-by":"publisher","unstructured":"Bearden D, Collett M, Quan PL, Costa-Carvalho BT, Sullivan KE (2016) Enteroviruses in X-linked agammaglobulinemia: update on epidemiology and therapy. J Allergy Clin Immunol Pract 4(6):1059\u20131065. https:\/\/doi.org\/10.1016\/j.jaip.2015.12.015. Epub 2016 Feb 13. PMID: 26883540","DOI":"10.1016\/j.jaip.2015.12.015"},{"issue":"6","key":"8870_CR41","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/s10875-014-0056-x","volume":"34","author":"VP Hernandez-Trujillo","year":"2014","unstructured":"Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C et al (2014) Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol 34(6):627\u2013632. https:\/\/doi.org\/10.1007\/s10875-014-0056-x","journal-title":"J Clin Immunol"},{"issue":"11","key":"8870_CR42","doi-asserted-by":"publisher","first-page":"2552","DOI":"10.1182\/blood-2011-08-371021","volume":"119","author":"S Borte","year":"2012","unstructured":"Borte S, von D\u00f6beln U, Fasth A, Wang N, Janzi M, Winiarski J, Sack U, Pan-Hammarstr\u00f6m Q, Borte M, Hammarstr\u00f6m L (2012) Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 119(11):2552\u20132555.\u00a0https:\/\/doi.org\/10.1182\/blood-2011-08-371021.\u00a0Epub 2011 Nov 30 PMID: 22130802","journal-title":"Blood"},{"issue":"4","key":"8870_CR43","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1111\/pai.12893","volume":"29","author":"J King","year":"2018","unstructured":"King J, Borte S, Brodszki N, von D\u00f6beln U, Smith CIE, Hammarstr\u00f6m L (2018) Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia. Pediatr Allergy Immunol 29(4):453\u2013456.\u00a0https:\/\/doi.org\/10.1111\/pai.12893.\u00a0Epub 2018 Apr 15 PMID: 29543351","journal-title":"Pediatr Allergy Immunol"},{"issue":"1","key":"8870_CR44","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.jaci.2011.01.052","volume":"128","author":"N Nakagawa","year":"2011","unstructured":"Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarstr\u00f6m Q, Hammarstr\u00f6m L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S (2011) Quantification of \u03ba-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol 128(1):223-225.e2.\u00a0https:\/\/doi.org\/10.1016\/j.jaci.2011.01.052.\u00a0Epub 2011 Mar 11 PMID: 21397315","journal-title":"J Allergy Clin Immunol"},{"key":"8870_CR45","doi-asserted-by":"publisher","unstructured":"Maglione PJ, Ko HM, Tokuyama M, Gyimesi G, Soof C, Li M, Sanchez E, Chen H, Radigan L, Berenson J, Cunningham-Rundles C (2020) Serum B-cell maturation antigen (BCMA) levels differentiate primary antibody deficiencies. J Allergy Clin Immunol Pract 8(1):283\u2013291.e1. https:\/\/doi.org\/10.1016\/j.jaip.2019.08.012. Epub 2019 Aug 17. PMID: 31430592; PMCID: PMC6980522","DOI":"10.1016\/j.jaip.2019.08.012"},{"issue":"1","key":"8870_CR46","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.iac.2018.08.001","volume":"39","author":"RL Wasserman","year":"2019","unstructured":"Wasserman RL (2019) Personalized therapy: immunoglobulin replacement for antibody deficiency. Immunol Allergy Clin North Am 39(1):95\u2013111.\u00a0https:\/\/doi.org\/10.1016\/j.iac.2018.08.001.\u00a0PMID: 30466775","journal-title":"Immunol Allergy Clin North Am"},{"issue":"2","key":"8870_CR47","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/s1521-6616(03)00045-7","volume":"107","author":"V Howard","year":"2003","unstructured":"Howard V, Myers LA, Williams DA, Wheeler G, Turner EV, Cunningham JM, Conley ME (2003) Stem cell transplants for patients with X-linked agammaglobulinemia. Clin Immunol 107(2):98\u2013102.\u00a0https:\/\/doi.org\/10.1016\/s1521-6616(03)00045-7. PMID: 12763478","journal-title":"Clin Immunol"},{"key":"8870_CR48","doi-asserted-by":"publisher","unstructured":"Abu-Arja RF, Chernin LR, Abusin G, Auletta J, Cabral L, Egler R, Ochs HD, Torgerson TR, Lopez-Guisa J, Hostoffer RW, Tcheurekdjian H, Cooke KR (2015) Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia. Pediatr Blood Cancer 62(9):1674\u20136. doi: https:\/\/doi.org\/10.1002\/pbc.25554. Epub 2015 Apr 20. PMID: 25900577; PMCID: PMC4876715","DOI":"10.1002\/pbc.25554"},{"issue":"10","key":"8870_CR49","doi-asserted-by":"publisher","first-page":"895","DOI":"10.3389\/fimmu.2019.00895.PMID:31105705;PMCID:PMC6498405","volume":"26","author":"MC van Zelm","year":"2019","unstructured":"van Zelm MC, Pumar M, Shuttleworth P, Aui PM, Smart JM, Grigg A, Bosco JJ (2019) Functional antibody responses following allogeneic stem cell transplantation for TP53 mutant pre-B-ALL in a patient with X-linked agammaglobulinemia. Front Immunol 26(10):895.\u00a0https:\/\/doi.org\/10.3389\/fimmu.2019.00895. PMID: 31105705; PMCID: PMC6498405","journal-title":"Front Immunol"},{"issue":"9","key":"8870_CR50","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s13045-016-0240-y.PMID:26873735;PMCID:PMC4752762","volume":"13","author":"K Ikegame","year":"2016","unstructured":"Ikegame K, Imai K, Yamashita M, Hoshino A, Kanegane H, Morio T, Kaida K, Inoue T, Soma T, Tamaki H, Okada M, Ogawa H (2016) Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. J Hematol Oncol 13(9):9.\u00a0https:\/\/doi.org\/10.1186\/s13045-016-0240-y. PMID: 26873735; PMCID: PMC4752762","journal-title":"J Hematol Oncol"},{"key":"8870_CR51","doi-asserted-by":"publisher","unstructured":"Barnes S, Kotecha S, Douglass JA, Paul E, Hore-Lacy F, Stirling R, Snell GI, Westall GP (2015) Evolving practice: X-linked agammaglobulinemia and lung transplantation. Am J Transplant 15(4):1110\u20131113.\u00a0https:\/\/doi.org\/10.1111\/ajt.13084. Epub 2015 Mar 3. Erratum in: Am J Transplant 15(8):2278. Hore-Lacey, F [corrected to Hore-Lacy, F]. PMID: 25736826","DOI":"10.1111\/ajt.13084"},{"key":"8870_CR52","doi-asserted-by":"publisher","unstructured":"Quinti I, Lougaris V, Milito C, Cinetto F, Pecoraro A, Mezzaroma I, Mastroianni CM, Turriziani O, Bondioni MP, Filippini M, Soresina A, Spadaro G, Agostini C, Carsetti R, Plebani A (2020) A possible role for B cells in COVID-19? Lesson from patients with agammaglobulinemia. J Allergy Clin Immunol 146(1):211\u2013213.e4. https:\/\/doi.org\/10.1016\/j.jaci.2020.04.013. Epub 2020 Apr 22. PMID: 32333914; PMCID: PMC7175894","DOI":"10.1016\/j.jaci.2020.04.013"},{"issue":"5","key":"8870_CR53","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1111\/pai.13263","volume":"31","author":"A Soresina","year":"2020","unstructured":"Soresina A, Moratto D, Chiarini M et al (2020) Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover. Pediatr Allergy Immunol 31(5):565\u2013569. https:\/\/doi.org\/10.1111\/pai.13263","journal-title":"Pediatr Allergy Immunol"},{"key":"8870_CR54","doi-asserted-by":"publisher","unstructured":"Hovey JG, Tolbert D, Howell D (2020) Bruton's Agammaglobulinemia and COVID-19.\u00a0Cureus\u00a012(11):e11701. Published 2020 Nov 25.\u00a0https:\/\/doi.org\/10.7759\/cureus.11701","DOI":"10.7759\/cureus.11701"},{"issue":"8","key":"8870_CR55","doi-asserted-by":"publisher","first-page":"2793","DOI":"10.1016\/j.jaip.2020.06.046","volume":"8","author":"E Mira","year":"2020","unstructured":"Mira E, Yarce OA, Ortega C et al (2020) Rapid recovery of a SARS-CoV-2-infected X-linked agammaglobulinemia patient after infusion of COVID-19 convalescent plasma. J Allergy Clin Immunol Pract 8(8):2793\u20132795. https:\/\/doi.org\/10.1016\/j.jaip.2020.06.046","journal-title":"J Allergy Clin Immunol Pract"},{"key":"8870_CR56","doi-asserted-by":"publisher","unstructured":"Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, S\u00e1nchez-Ram\u00f3n S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendon\u00e7a LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N; IUIS Committee of Inborn Errors of Immunity, Warnatz K, Sullivan KE, Tangye SG (2021) Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol 147(2):520\u2013531. https:\/\/doi.org\/10.1016\/j.jaci.2020.09.010. Epub 2020 Sep 24. PMID: 32980424; PMCID: PMC7832563","DOI":"10.1016\/j.jaci.2020.09.010"},{"key":"8870_CR57","doi-asserted-by":"publisher","unstructured":"Ho HE, Mathew S, Peluso MJ, Cunningham-Rundles C (2021) Clinical outcomes and features of COVID-19 in patients with primary immunodeficiencies in New York City. J Allergy Clin Immunol Pract\u00a09(1):490\u2013493.e2. https:\/\/doi.org\/10.1016\/j.jaip.2020.09.052. Epub 2020 Oct 8. PMID: 33039649; PMCID: PMC7543763","DOI":"10.1016\/j.jaip.2020.09.052"},{"key":"8870_CR58","doi-asserted-by":"publisher","unstructured":"Roschewski M, Lionakis MS, Sharman JP et al (2020) Inhibition of Bruton tyrosine kinase in patients with severe COVID-19.\u00a0Sci Immunol 5(48):eabd0110.\u00a0https:\/\/doi.org\/10.1126\/sciimmunol.abd0110","DOI":"10.1126\/sciimmunol.abd0110"}],"container-title":["Clinical Reviews in Allergy &amp; Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12016-021-08870-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12016-021-08870-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12016-021-08870-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T18:48:26Z","timestamp":1744138106000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12016-021-08870-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,9]]},"references-count":58,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,8]]}},"alternative-id":["8870"],"URL":"https:\/\/doi.org\/10.1007\/s12016-021-08870-5","relation":{},"ISSN":["1559-0267"],"issn-type":[{"value":"1559-0267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,9]]},"assertion":[{"value":"8 June 2021","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2021","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Vivian Hernandez-Trujillo reports conflict with Ad board for Takeda and CSL; Speaker for Takeda; Consultant for Takeda. Melissa Cardenas-Morales does not have any conflicts of interest to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}