MHC class II deficiency: Two different clinical presentations in the same family accompanied with familial hypertriglyceridemia type IV

DOĞU E. F., İKİNCİOĞULLARI K. A., Kendirli T., Reisli I., Ince E., Berberoglu M., ...More

IXth Meeting of the European-Society-for-Immunodeficiencies, GENEVA, Switzerland, 5 - 08 November 2000, pp.121-126 identifier

  • Publication Type: Conference Paper / Full Text
  • City: GENEVA
  • Country: Switzerland
  • Page Numbers: pp.121-126
  • Ankara University Affiliated: Yes

Abstract

Major histocompatibility complex(MHC) class LT. deficiency is a rare autosomal recessive disease characterized by cellular and humoral immunodeficiency. Expression of MHC class II genes is controlled at the transcriptional level by at least four transacting genes. Defects in these regulatory genes results in lack of MHC class II expression. Despite the genetic heterogeneity in the cause of MHC II deficiency, the syndrome is clinically homogeneous. Here we report two different clinical presentations of MHC class II deficiency in the same family; an 8-month-old boy with severe,recurrent infections and his 4-year-old sister with asymptomatic clinical course. Other than their primary immunodeficiency familial hypertriglyceridemia type IV was diagnosed in these siblings.