{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:13:54Z","timestamp":1753877634801,"version":"3.41.2"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T00:00:00Z","timestamp":1677456000000},"content-version":"vor","delay-in-days":26,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. We present a curious case of the incidental detection of HIGM in a 45-year-old male with complement C1q deficiency. He had relatively mild sinopulmonary infections, recurrent skin infections and lipomas in his adulthood. Investigations revealed normal enumeration of total peripheral blood B cells and reduced expression of CD40L on his CD4+ T cells. C1q was noted to be absent, due to a peripheral inhibitor such as an autoantibody. Genomic sequencing of the patient and his parents revealed a novel, de novo heterozygous mutation in the ATM (ataxia telangiectasia mutated) gene although he displayed no clinical evidence of ataxia telangiectasia. This is a rare case of HIGM and acquired C1q deficiency. We present full phenotyping data that contributes to the growing understanding to these interesting immunodeficiencies.<\/jats:p>","DOI":"10.1093\/omcr\/omad005","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T13:25:41Z","timestamp":1677504341000},"source":"Crossref","is-referenced-by-count":1,"title":["Hyper-IgM and acquired C1q complement deficiency in a patient with<i>de novo<\/i>\u00a0<i>ATM<\/i>mutation"],"prefix":"10.1093","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5179-4803","authenticated-orcid":false,"given":"Adrian Y S","family":"Lee","sequence":"first","affiliation":[{"name":"Westmead Hospital Department of Clinical Immunology & Allergy, , Westmead, NSW 2150, Australia"},{"name":"NSW Health Pathology Immunopathology, ICPMR, , Westmead, NSW 2150, Australia"},{"name":"University of Sydney Westmead Clinical School, , Westmead, NSW 2150, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Dai","sequence":"additional","affiliation":[{"name":"Garvan Institute of Medical Research Immunology Division, , Darlinghurst, NSW 2010, Australia"},{"name":"University of New South Wales St Vincent\u2019s Clinical School, Faculty of Medicine, , Darlinghurst, NSW 2010, Australia"},{"name":"University of New South Wales Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research, , Darlinghurst, NSW 2010, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Burnett","sequence":"additional","affiliation":[{"name":"Garvan Institute of Medical Research Immunology Division, , Darlinghurst, NSW 2010, Australia"},{"name":"University of New South Wales St Vincent\u2019s Clinical School, Faculty of Medicine, , Darlinghurst, NSW 2010, Australia"},{"name":"University of New South Wales Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research, , Darlinghurst, NSW 2010, Australia"},{"name":"Garvan Institute of Medical Research The Kinghorn Centre for Clinical Genomics, , Darlinghurst, NSW 2010, Australia"},{"name":"University of Sydney Northern Clinical School, Faculty of Medicine and Health, , St Leonards, NSW 2065, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiumei","family":"Wei","sequence":"additional","affiliation":[{"name":"Sutherland Centre of Immunology, South Eastern Area Laboratory Services, NSW Health Pathology , Caringbah, NSW 2228, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fakhria","family":"Kakar","sequence":"additional","affiliation":[{"name":"NSW Health Pathology Immunopathology, ICPMR, , Westmead, NSW 2150, Australia"},{"name":"University of Sydney Westmead Clinical School, , Westmead, NSW 2150, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Ohnesorg","sequence":"additional","affiliation":[{"name":"Garvan Institute of Medical Research The Kinghorn Centre for Clinical Genomics, , Darlinghurst, NSW 2010, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Wei","family":"Lin","sequence":"additional","affiliation":[{"name":"Westmead Hospital Department of Clinical Immunology & Allergy, , Westmead, NSW 2150, Australia"},{"name":"NSW Health Pathology Immunopathology, ICPMR, , Westmead, NSW 2150, Australia"},{"name":"University of Sydney Westmead Clinical School, , Westmead, NSW 2150, Australia"},{"name":"University of New South Wales Clinical Immunogenomics Research Consortium Australasia, Garvan Institute of Medical Research, , Darlinghurst, NSW 2010, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,2,27]]},"reference":[{"key":"2023022713253469900_","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1203\/01.PDR.0000139318.65842.4A","article-title":"The hyper IgM syndrome\u2014an evolving story","volume":"56","author":"Etzioni","year":"2004","journal-title":"Pediatr Res"},{"key":"2023022713253469900_","first-page":"401","article-title":"The ATM gene and ataxia telangiectasia","volume":"28","author":"Mavrou","year":"2008","journal-title":"Anticancer Res"},{"key":"2023022713253469900_","doi-asserted-by":"crossref","first-page":"4887","DOI":"10.4049\/jimmunol.1303481","article-title":"ATM increases activation-induced cytidine deaminase activity at downstream S regions during class-switch recombination","volume":"192","author":"Khair","year":"2014","journal-title":"J 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