title: Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency.
abstract: Common variable immunodeficiency (CVID) is a highly heterogeneous disease with an unpredictable pattern. CVID appears to have an immunologic and clinical phenotype similar to some hereditary humoral immunodeficiencies, including X-linked lymphoproliferative disease (XLP). The differential diagnosis of CVID and XLP is clinically of importance, because the two diseases have markedly different prognoses and treatment. The recent identification of the XLP gene, known as SH2D1A, has permitted a definitive diagnosis of XLP. In this report, we describe a male patient with XLP who initially received a diagnosis of CVID and developed a fatal course. Using genetic analysis, we confirmed that the patient harbored the SH2D1A gene mutation. The results support the notion that the possibility of a SH2D1A gene mutation should be considered in hypogammaglobulinemic male patients before a diagnosis of CVID is made.
authors.affiliation: Department of Clinical Pediatric Immunology, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moein
authors.forename: Abolhasan
authors.initials: A
authors.lastname: Farhoudi
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Masoud
authors.initials: M
authors.lastname: Movahedi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Gharagozlou
authors.forename: Ali Akabar Amir
authors.initials: AA
authors.lastname: Zargar
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D017074:Common Variable Immunodeficiency / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein