Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

Shirkani, Afshin; Shahrooei, Mohammad; Azizi, Gholamreza; Rokni-Zadeh, Hassan; Abolhassani, Hassan; Farrokhi, Shokrollah; Frans, Glynis; Bossuyt, Xavier; Aghamohammadi, Asghar

Shirkani, Afshin; Shahrooei, Mohammad; Azizi, Gholamreza; Rokni-Zadeh, Hassan; Abolhassani, Hassan; Farrokhi, Shokrollah; Frans, Glynis; Bossuyt, Xavier; Aghamohammadi, Asghar.

Afiliación

Shirkani A; a Bushehr University of Medical Science, School of Medicine , Allergy and Clinical Immunology Department , Bushehr , Iran.
Shahrooei M; b KU Leuven-University of Leuven, Department of Microbiology and Immunology , Laboratory of Clinical Bacteriology and Mycology , Leuven , Belgium.
Azizi G; c Specialised Immunology Laboratory of Dr. Shahrooei , Ahvaz , Iran.
Rokni-Zadeh H; d Department of Laboratory Medicine , Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences , Karaj , Iran.
Abolhassani H; e Research Center for Immunodeficiencies, Pediatrics Center of Excellence , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
Farrokhi S; f Department of Medical Biotechnology and Nanotechnology , Zanjan University of Medical Sciences , Zanjan , Iran.
Frans G; e Research Center for Immunodeficiencies, Pediatrics Center of Excellence , Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
Bossuyt X; g Division of Clinical Immunology, Department of Laboratory Medicine , Karolinska Institute at Karolinska University Hospital Huddinge , Stockholm , Sweden.
Aghamohammadi A; h Department of Immunology and Allergy , Persian Gulf Tropical Medicine Research Center, Bushehr University of Medical Sciences , Bushehr , Iran.

Immunol Invest ; 46(1): 70-79, 2017 Jan.

Article en En | MEDLINE | ID: mdl-27759478

RESUMEN

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.

Asunto(s)

Enfermedades Autoinmunes/genética; Infecciones Bacterianas/genética; Linfocitos T CD4-Positivos/fisiología; Linfocitos T CD8-positivos/fisiología; Síndromes de Inmunodeficiencia/genética; Mutación/genética; Proteína Tirosina Quinasa ZAP-70/genética; Proliferación Celular/genética; Preescolar; Análisis Mutacional de ADN; Humanos; Inmunidad Humoral/genética; Irán; Masculino; Sistema de Registros

Palabras clave

Immunodeficiency; ZAP-70; lymphocyte

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Infecciones Bacterianas / Linfocitos T CD4-Positivos / Linfocitos T CD8-positivos / Proteína Tirosina Quinasa ZAP-70 / Síndromes de Inmunodeficiencia / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Immunol Invest Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Reino Unido

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