title: Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.
abstract: ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response. Immunoglobulin levels were normal, but the specific antibody response was impaired. Whole exome sequencing revealed a mutation within the kinase domain of ZAP-70. ZAP-70 deficiency should be considered in infants and young children with recurrent bacterial infections, in spite of having palpable lymph nodes, a notable thymus shadow, and a normal total lymphocyte count.
authors.affiliation: a Bushehr University of Medical Science, School of Medicine , Allergy and Clinical Immunology Department , Bushehr , Iran.
authors.forename: Afshin
authors.initials: A
authors.lastname: Shirkani
authors.affiliation: b KU Leuven-University of Leuven, Department of Microbiology and Immunology , Laboratory of Clinical Bacteriology and Mycology , Leuven , Belgium.|c Specialised Immunology Laboratory of Dr. Shahrooei , Ahvaz , Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Shahrooei
authors.affiliation: d Department of Laboratory Medicine , Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences , Karaj , Iran.|e Research Center for Immunodeficiencies, Pediatrics Center of Excellence , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Azizi
authors.affiliation: f Department of Medical Biotechnology and Nanotechnology , Zanjan University of Medical Sciences , Zanjan , Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Rokni-Zadeh
authors.affiliation: e Research Center for Immunodeficiencies, Pediatrics Center of Excellence , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.|g Division of Clinical Immunology, Department of Laboratory Medicine , Karolinska Institute at Karolinska University Hospital Huddinge , Stockholm , Sweden.
authors.forename: Hassan
authors.initials: H
authors.lastname: Abolhassani
authors.affiliation: h Department of Immunology and Allergy , Persian Gulf Tropical Medicine Research Center, Bushehr University of Medical Sciences , Bushehr , Iran.
authors.forename: Shokrollah
authors.initials: S
authors.lastname: Farrokhi
authors.affiliation: i Department of Microbiology and Immunology , Experimental Laboratory Immunology , KU Leuven, Leuven , Belgium.
authors.forename: Glynis
authors.initials: G
authors.lastname: Frans
authors.affiliation: i Department of Microbiology and Immunology , Experimental Laboratory Immunology , KU Leuven, Leuven , Belgium.|j Department of Laboratory Medicine , University Hospitals Leuven , Leuven , Belgium.
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
authors.affiliation: e Research Center for Immunodeficiencies, Pediatrics Center of Excellence , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics*; D001424:Bacterial Infections / Q000235:genetics*; D015496:CD4-Positive T-Lymphocytes / Q000502:physiology*; D018414:CD8-Positive T-Lymphocytes / Q000502:physiology*; D049109:Cell Proliferation / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D056724:Immunity, Humoral / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007492:Iran; D008297:Male; D009154:Mutation / Q000235:genetics*; D012042:Registries; D051746:ZAP-70 Protein-Tyrosine Kinase / Q000235:genetics*
chemical_list: D051746:ZAP-70 Protein-Tyrosine Kinase
keywords: Immunodeficiency; ZAP-70; lymphocyte