XSCID

[X-linked severe combined immunodeficiency] abbr. also SCIDX. This disorder is known also as Swiss-type agammaglobulinemia or thymic epithelial hypoplasia (Nezelof, 1992). This immunodeficiency is also being referred to as XSCID1 [X-linked severe combined immunodeficiency-1]. An alternative designation for this immunodeficiency disorder is IMD4 [immunodeficiency 4].

XSCID is a severe combined immunodeficiency syndrome characterized by the inactivation of the X chromosome (Conley et al, 1988, 1990; Goodship et al, 1988; Puck et al, 1987) and mutations in the gamma chain of the ... ... ... ...
 
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Entry last modified: April 2021