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INHERITANCE OF CHRONIC GRANULOMATOUS DISEASE IN FEMALES Report of a Female Patient and the Leucocyte Function Studies in the Family
Author(s) -
KOCH CHRISTIAN,
SØGAARD HELMER,
CHRISTENSEN MOGENS FJORD
Publication year - 1973
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1973.tb17082.x
Subject(s) - chronic granulomatous disease , medicine , heterozygote advantage , disease , trait , autosomal recessive trait , immunology , genetics , pathology , gene , allele , biology , computer science , programming language
SUMMARY A case of chronic granulomatous disease in a female child is presented. Onset of symptoms seem to have been somewhat delayed compared with most male patients. The results of in vitro leucocyte function studies on the patient and her parents and siblings are presented together with the results of similar studies on 6 male patients and some of their relatives. In contrast to the male patients, no heterozygote carrier state could be detected among the family members. These results are in agreement with current views on the genetics of chronic granulomatous disease, that the large majority of male cases are inherited as an X‐linked trait whereas most if not all female cases are inherited as an autosomal recessive trait. Spontaneous gene mutation cannot, however, be excluded in the present case.