The Effect of Delayed and Early Diagnosis in Siblings, and Importance of Newborn Screening for SCID

Severe combined immunodeficiency (SCID) is a form of primary immunodeficiency that affects both cellular and humoral immunity, caused by genetic defects in lymphocyte development and function. There are over 20 known genes mutations that lead to SCID including defects that cause radiosensitivity due to impairment in DNA repair (1). Mutations in DCLREC1 resulting in absent or dysfunctional Artemis protein are the most common cause of SCID associated with increased radiosensitivity and were identified as the etiology of the unusually high incidence of T-B-NK+ SCID in Athabascan-speaking tribes, Apache and Navajo (2,3).

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