{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:40:23Z","timestamp":1786653623281,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015]]},"abstract":"\n \n \n Hyperimmunoglobulin M (HIGM) type 3 due to\n CD40<\/jats:italic>\n deficiency is a very rare syndrome. Only 16 cases have been reported thus far. The clinical presentation is very variable. We present the first case of this rare disorder from India. The case is of a two-and-a-half-year-old female, with a history of repeated episodes of skin infections and diarrhea since birth. Laboratory evaluation revealed elevated absolute lymphocyte count and an absolute neutrophil count (ANC) of 1026\/mm\n 3<\/jats:sup>\n . The lymphocyte subset analysis showed normal absolute counts of Natural Killer (NK) cells and elevated absolute counts of T-cells (CD4 and CD8) and B-cells. The serum immunoglobulin estimation showed low levels of IgG, IgA, IgE and an elevated level of IgM. The CD154 analysis was normal and expression of\n CD40<\/jats:italic>\n was absent on the B-cells. Molecular analysis showed a novel mutation, with deletion of 3bp (AAG) [p.Glu107GlyfsX84] in the homozygous state, in the\n CD40<\/jats:italic>\n gene. Thus the patient was diagnosed as HIGM type 3. The parents were screened and counseled regarding prenatal diagnosis at the time of next pregnancy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/0022-3859.147053","type":"journal-article","created":{"date-parts":[[2014,12,15]],"date-time":"2014-12-15T07:14:10Z","timestamp":1418627650000},"page":"46-48","source":"Crossref","is-referenced-by-count":5,"title":["Hyperimmunoglobulin syndrome due to CD40 deficiency"],"prefix":"10.4103","volume":"61","author":[{"given":"A","family":"Mishra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Italia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Desai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Madkaikar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20240205","doi-asserted-by":"crossref","first-page":"5867","DOI":"10.1182\/blood-2010-03-274241","article-title":"Different molecular behavior of CD40 mutants causing hyper-IgM syndrome","volume":"116","author":"Lanzi","year":"2010","journal-title":"Blood"},{"key":"R2-12-20240205","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1365-3083.2012.02697.x","article-title":"Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression","volume":"76","author":"Karaca","year":"2012","journal-title":"Scand J Immunol"},{"key":"R3-12-20240205","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1742-4933-5-15","article-title":"Aged B lymphocytes retain their ability to express surface markers but are dysfunctional in their proliferative capability during early activation events","volume":"5","author":"Blaeser","year":"2008","journal-title":"Immun Ageing"},{"key":"R4-12-20240205","doi-asserted-by":"crossref","first-page":"4099","DOI":"10.1182\/blood-2003-04-1244","article-title":"Functional defects of dendritic cells in patients with CD40 deficiency","volume":"102","author":"Fontana","year":"2003","journal-title":"Blood"},{"key":"R5-12-20240205","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1067\/mpd.2003.41","article-title":"Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency","volume":"142","author":"Kutukculer","year":"2003","journal-title":"J Pediatr"},{"key":"R6-12-20240205","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/sj.bmt.1705713","article-title":"First report of successful stem cell transplantation in a child with CD40 deficiency","volume":"40","author":"Mazzolari","year":"2007","journal-title":"Bone Marrow Transplant"},{"key":"R7-12-20240205","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1007\/s10875-013-9951-9","article-title":"Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients","volume":"33","author":"Al-Saud","year":"2013","journal-title":"J Clin Immunol"},{"key":"R8-12-20240205","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/j.jaci.2003.07.003","article-title":"Pediatric AIDS Clinical Trials Group. Lymphocyte subsets in healthy children from birth through 18 years of age: The Pediatric AIDS Clinical Trials Group P1009 study","volume":"112","author":"Shearer","year":"2003","journal-title":"J Allergy Clin Immunol"},{"key":"R10-12-20240205","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1097\/01.md.0000100046.06009.b0","article-title":"The X-linked hyper-IgM syndrome: Clinical and immunologic features of 79 patients","volume":"82","author":"Winklestein","year":"2003","journal-title":"Medicine (Baltimore"}],"container-title":["Journal of Postgraduate Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00005257-201561010-00012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:40:05Z","timestamp":1786650005000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00005257-201561010-00012"}},"subtitle":["Possibly the first case from India"],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.4103\/0022-3859.147053","relation":{},"ISSN":["0022-3859"],"issn-type":[{"value":"0022-3859","type":"print"}],"subject":[],"published":{"date-parts":[[2015]]}}}