{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T05:29:11Z","timestamp":1734499751586,"version":"3.30.2"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T00:00:00Z","timestamp":1731024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p><jats:italic>Activation\u2010induced cytidine deaminase (AID)<\/jats:italic> deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and\/or autoinflammation. <jats:italic>AID<\/jats:italic> plays an important role in immunoglobulin class switching and somatic hypermutation. <jats:italic>AID<\/jats:italic> deficiency patients have very low or absent levels of IgG, IgA, and IgE, while IgM level is elevated. The disease is designated as type 2 hyperimmunoglobulin M syndrome (HIGM\u20102). To date, around 130 patients with HIGM\u20102 have been reported, none from Egypt.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four patients from three different consanguineous families with elevated serum IgM and low IgG and IgA were included in the study. After the exclusion of CD40 and\/or CD40L deficiency by flow cytometry, patients\u2019 samples were tested by a panel covering 452 genes (four bases PID\u2010Pro) on the Illumina Miseq platform.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients suffered repeated infections since childhood. Patients 1\u20133 had inflammatory bowel disease\u2010like (IBD\u2010like) symptoms, while patient 4 did not have autoimmune manifestations. Patient 1 is the first HIGM\u20102 patient to be reported to have renal amyloidosis as part of the autoinflammation. Patients 1\u20133 had the same pathogenic variant (NM_020661.4 (<jats:italic>AID<\/jats:italic>):c.406del, p.Ile136Ter), while patient 4 had another pathogenic variant (NM_020661.4 (<jats:italic>AID<\/jats:italic>):c.374G\u00a0&gt;\u00a0A, p.Gly125Glu). The variant p.Ile136Ter was not reported before in any of the documented HIGM\u20102 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>HIGM\u20102 is a rare IEI that can be overlooked; hence, patients\u2019 diagnosis is delayed. Autoimmune and autoinflammatory manifestations develop later in the disease course leading to significant morbidities. The diagnosis can be suspected after exclusion of CD40\/CD40L deficiencies by flow cytometry, and the diagnosis can be confirmed by genetic testing.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12583","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T10:08:24Z","timestamp":1731060504000},"page":"47-53","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and immunological features of four patients with <i>activation\u2010induced cytidine deaminase<\/i> deficiency: Renal amyloidosis and other presentations"],"prefix":"10.1111","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0370-3820","authenticated-orcid":false,"given":"Safa S.","family":"Meshaal","sequence":"first","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rabab E.","family":"El Hawary","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalia S.","family":"Abd Elaziz","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alia","family":"Eldash","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rania","family":"Darwish","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Erfan","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sohilla","family":"Lotfy","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai M.","family":"Saad","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Engy A.","family":"Chohayeb","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Nagy","sequence":"additional","affiliation":[{"name":"Endemic Hepatology, Gastroenterology, and Infectious Diseases Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radwa","family":"Alkady","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeannette A.","family":"Boutros","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nermeen M.","family":"Galal","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aisha M.","family":"Elmarsafy","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,8]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_11_2_1","DOI":"10.1007\/s10875-022-01352-z"},{"doi-asserted-by":"publisher","key":"e_1_2_11_3_1","DOI":"10.1038\/nri.2016.2"},{"doi-asserted-by":"publisher","key":"e_1_2_11_4_1","DOI":"10.1111\/imm.13176"},{"doi-asserted-by":"publisher","key":"e_1_2_11_5_1","DOI":"10.1146\/annurev.biochem.76.061705.090740"},{"doi-asserted-by":"publisher","key":"e_1_2_11_6_1","DOI":"10.1002\/eji.200324133"},{"doi-asserted-by":"publisher","key":"e_1_2_11_7_1","DOI":"10.1007\/s10875-022-01272-y"},{"doi-asserted-by":"publisher","key":"e_1_2_11_8_1","DOI":"10.1111\/cei.13222"},{"doi-asserted-by":"publisher","key":"e_1_2_11_9_1","DOI":"10.1186\/s13223-022-00688-w"},{"doi-asserted-by":"publisher","key":"e_1_2_11_10_1","DOI":"10.1006\/clim.2000.4956"},{"doi-asserted-by":"publisher","key":"e_1_2_11_11_1","DOI":"10.1016\/j.clim.2003.10.007"},{"doi-asserted-by":"publisher","key":"e_1_2_11_12_1","DOI":"10.1016\/S0092-8674(00)00079-9"},{"doi-asserted-by":"publisher","key":"e_1_2_11_13_1","DOI":"10.1038\/ejhg.2016.37"},{"doi-asserted-by":"publisher","key":"e_1_2_11_14_1","DOI":"10.3389\/fimmu.2014.00120"},{"doi-asserted-by":"publisher","key":"e_1_2_11_15_1","DOI":"10.1002\/humu.21322"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12583","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T10:22:51Z","timestamp":1734430971000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,8]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/ahg.12583"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12583","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"type":"print","value":"0003-4800"},{"type":"electronic","value":"1469-1809"}],"subject":[],"published":{"date-parts":[[2024,11,8]]},"assertion":[{"value":"2024-05-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}