Adenosine deaminase deficiency: molecular basis and recent developments

R Hirschhorn - Clinical immunology and immunopathology, 1995 - Elsevier
The syndrome of Severe Combined Immunodeficiency (SCID) encompasses a group of
disorders, each due to different genetic defects. All of these different genetic defects severely
affect both cellular and humoral immunity, resulting in similar phenotypes. The majority of
cases show X-linked inheritance and have now been identified as due to mutations at the
locus for the T chain common to several receptors for interleukins (including the I12R).. The
remainder of cases show autosomal recessive inheritance. The molecular basis for …