Hereditary severe combined immunodeficiency and adenosine deaminase deficiency

Abstract

A retrospective study aiming at detection of heterozygous carriers of blood adenosine deaminase (ADA) deficiency was carried out in 9 families because children had died of combined immunodeficiency (SCID). The trait was found in 3 of 9 parent couples, and in 14 other relatives. In 2 families one homozygous patient was identified. A total of 54 family members and 60 healthy control subjects were tested. Clinically, the patients were all characterized by marked lymphopenia, nearly normal immunoglobulin levels, and inability to produce antibodies. One homozygous patient recovered after transplantation of fetal liver and thymus and is immunologically normal 1.5 yr afterwards.