MOSAICISM IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY

We performed gamma c gene analysis of a boy with severe combined immun odeficiency whose brother died of the same condition. A base pair dele tion in exon 6 was found, which was absent in his mother, indicating m aternal mosaicism with important implications for genetic counseling a nd demonstrating the importance of mutation analysis in boys with seve re combined immunodeficiency.