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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-09-2017
Symbol IMD29
Location 5q33.3
Name Immunodeficiency-29
Corresponding gene IL12B
Main clinical features
  • presence of mature granulomas and a secundary impairment of IFNG production
  • IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name . interleukin 12, beta polypeptide . founder effect in the Indian subcontinent (large deletion) or the Arabian Peninsule (small insertion)