China
Africa
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Basics of Allergy
Published in Pudupakkam K Vedanthan, Harold S Nelson, Shripad N Agashe, PA Mahesh, Rohit Katial, Textbook of Allergy for the Clinician, 2021
Rafeul Alam, Dipa K Sheth, Magdalena M Gorska
Patients with congenital deficiency of Lck have severe combined immunodeficiency because of the failure of CD4 differentiation; ZAP70 deficiency results in the severe defect of CD8 T cell differentiation (see Chapter 12).
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)
Published in Immunological Investigations, 2021
Farzaneh Rahmani, Elham Rayzan, Mohammad Reza Rahmani, Sepideh Shahkarami, Samaneh Zoghi, Arezoo Rezaei, Zahra Aryan, Mehri Najafi, Meino Rohlfs, Tim Jeske, Majid Aflatoonian, Zahra Chavoshzadeh, Fatemeh Farahmand, Farzaneh Motamed, Pejman Rohani, Hossein Alimadadi, Alireza Mahdaviani, Mahboubeh Mansouri, Marzieh Tavakol, Mirjam Vanderberg, Daniel Kotlarz, Christoph Klein, Nima Rezaei
The product of ZAP70 gene, ZAP-70, is essential for T cell receptor (TCR) signal transduction and is expressed predominantly on natural killer cells and T cell (Chan et al. 2016). ZAP-70 deficiency is characterized by the absence of CD8 + T cells in the periphery, defective TCR signalling in CD4+ cells, and defective T cell tolerance induction, the latter being cited for autoimmune manifestations in these patients (Liu et al. 2017). Importantly, the presence of IBD in patients with ZAP70 mutation is associated with a leaky SCID phenotype with residual CD4 + T cell activity (Liu et al. 2017). Single nucleotide variants of ZAP70 have been found to affect IBD risk in some populations (Bouzid et al. 2013). Our patient had low CD8+ counts, recurrent thrush and a CD phenotype and unfortunately died due to complications of candidemia at 14 months old.