Abstract
Severe combined immunodeficiency (SCID) is a group of
genetic disorders characterized by significant impairment of
T cell differentiation, with or without abnormal B and NK cell
differentiation. Without hematopoietic stem cell transplant
(HSCT), the condition usually leads to an early death, typically due to infections. The most frequent genetic cause of SCID
affects the common gamma chain, necessary for cytokine signaling. A similar phenotype is observed with mutations in the
Janus-associated kinase 3 (JAK3) gene, the immediate downstream signaling molecule
Original language | English |
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Pages (from-to) | 1103-1105 |
Number of pages | 0 |
Journal | Journal of Clinical Immunology |
Volume | 41 |
Issue number | 5 |
Early online date | 22 Feb 2021 |
DOIs | |
Publication status | Published - 22 Feb 2021 |