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Novel Mutation of Zap-70-Related Combined Immunodeficiency: First Case From the National Iranian Registry and Review of the Literature Publisher Pubmed



Shirkani A1 ; Shahrooei M2, 3 ; Azizi G4, 5 ; Roknizadeh H6 ; Abolhassani H5, 7 ; Farrokhi S8 ; Frans G9 ; Bossuyt X9, 10 ; Aghamohammadi A5
Authors
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Authors Affiliations
  1. 1. Bushehr University of Medical Science, School of Medicine, Allergy and Clinical Immunology Department, Bushehr, Iran
  2. 2. KU Leuven-University of Leuven, Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, Leuven, Belgium
  3. 3. Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran
  4. 4. Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran
  5. 5. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Medical Biotechnology and Nanotechnology, Zanjan University of Medical Sciences, Zanjan, Iran
  7. 7. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
  8. 8. Department of Immunology and Allergy, Persian Gulf Tropical Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran
  9. 9. Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium
  10. 10. Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium

Source: Immunological Investigations Published:2017


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. © 2016 Taylor & Francis.
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