title: Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.
abstract: The hyper-immunoglobulin M (HIGM) syndrome comprises a group of primary immunodeficiency disorders characterized by normal or elevated serum levels of IgM and low levels of other immunoglobulin classes. Patients with HIGM usually suffer from a variety of recurrent infections. Herein, we report two siblings of a Tajik family with a HIGM phenotype in which a novel missense mutation in the activation-induced cytidine deaminase (AICDA) gene was detected. Mutations in this gene are responsible for an autosomal recessive form of HIGM. We have also reviewed and summarized all published cases with HIGM due to defects in AICDA.
authors.affiliation: Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Seyed Alireza
authors.initials: SA
authors.lastname: Mahdaviani
authors.forename: Armin
authors.initials: A
authors.lastname: Hirbod-Mobarakeh
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Masjedi
authors.forename: Qiang
authors.initials: Q
authors.lastname: Pan-Hammarström
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D002675:Child, Preschool; D003564:Cytidine Deaminase / Q000235:genetics*; D005260:Female; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics* / Q000276:immunology; D008297:Male; D020125:Mutation, Missense; D035781:Siblings; D055815:Young Adult; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase