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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-09-2017
Symbol IMD41
Location 10p15.1
Name Immunodeficiency 41
Other name(s) IL2RA deficiency
Corresponding gene IL2RA
Main clinical features
  • pneumonitis, gastroenteritis, chronic diarrhea, and failed to thrive, with , lymphadenopathy and hepatosplenomegaly and absence of CD1 and of IL2RA expression on cortical thymocyte
  • in infancy recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions; immunologic studies show a defect in T-cell regulation
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name interleukin 2 receptor A (IL2RA)