학술논문
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells.
Document Type
Article
Author
Source
Subject
*SEVERE combined immunodeficiency
*T cells
*SHORT tandem repeat analysis
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Language
ISSN
0905-6157
Abstract
Furthermore, phytohemagglutinin (PHA) as well as anti-CD3/CD28-induced CD4 SP + sp T-cell proliferation was defective in the patient, compared to healthy family members (Figure S1B,C). Lymphocyte immunophenotyping revealed moderate low CD3 SP + sp and CD8 SP + sp T cells, accompanied by decreased naive and increased memory CD4 SP + sp and CD8 SP + sp T cells. Dermatitis was described in all of these patients, but apart from our report, other patients also presented respiratory and gastrointestinal infections.2,5-7 The majority of described patients with I ZAP70 i mutations had a clinical diagnosis of CID. [Extracted from the article]