Premium
IMPAIRED LYMPHOCYTE TRANSFORMATION AND CHROMOSOMAL ABNORMALITIES IN FATAL GRANULOMATOUS DISEASE OF CHILDHOOD
Author(s) -
BARNES R. D.,
BISHUN N. P.,
HOLLIDAY JEAN
Publication year - 1970
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.1651-2227.1970.tb15535.x
Subject(s) - medicine , disease , lymphocyte , peripheral blood , immunology , chronic granulomatous disease , transmission (telecommunications) , granulomatous disease , transformation (genetics) , pathology , genetics , biology , gene , electrical engineering , engineering
Summary A previously described case of fatal granulomatous disease of childhood is presented here as certain previous findings could not be confirmed and since two unusual features were noted. Upon the basis of impaired leucocyte function in the father of this patient a new mode of genetic transmission for the disease was proposed meanwhile we have been unable to confirm these original findings (11). This case in itself was interesting since, firstly an impaired in vitro lymphocyte transformation was noted and this later related to the presence of a serum inhibitory factor. Secondly, chromosomal abnormalities were recorded in peripheral blood cells of both patient and his mother and this might be considered evidence to favour a sex‐linked transmission of the disease in this case.