Condition: IMMUNODEFICIENCY 30
rs121434494 in
IL12RB1 gene and
IMMUNODEFICIENCY 30
PMID 11424023 2001 Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.
PMID 27141500 2016 Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.
PMID 12591909 2003 Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
PMID 9603733 1998 Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients.
PMID 21057261 2010 Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.