title: Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report.
abstract: The hyper-immunoglobulin M (HIGM) syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin G (IgG) and IgA, and normal/increased serum levels of IgM. Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. Two of the siblings, sibling 1 and sibling 3, presented with cervical deep abscess and cervical tuberculosis lymphadenitis, respectively.
authors.affiliation: Erciyes University School of Medicine , Department of Pediatric Immunology, Kayseri , Turkey.|Erciyes University School of Medicine , Department of Pediatric Hematology and Oncology, Kayseri , Turkey.
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.affiliation: Erciyes University School of Medicine , Department of Pediatric Immunology, Kayseri , Turkey.
authors.forename: H Haluk
authors.initials: HH
authors.lastname: Akar
authors.affiliation: Department of Erasmus MC, University Medical Center Rotterdam , Rotterdam , the Netherlands.
authors.forename: Mirjam
authors.initials: M
authors.lastname: van der Burg
authors.affiliation: Erciyes University School of Medicine , Department of Pediatric Hematology and Oncology, Kayseri , Turkey.
authors.forename: Ekrem
authors.initials: E
authors.lastname: Unal
mesh_terms: D000293:Adolescent; D002648:Child; D003564:Cytidine Deaminase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000097:blood / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D008199:Lymphadenitis / Q000097:blood / Q000209:etiology*; D008297:Male; D020125:Mutation, Missense; D035781:Siblings; D014376:Tuberculosis / Q000097:blood / Q000209:etiology*; D014421:Turkey; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase
keywords: activation-induced cytidine deaminase gene; hyper-immunoglobulin M syndrome; tuberculosis lymphadenitis