| Symbol
| IL12RB1D
|
| Location
| 19p13.11
|
| Name
|
interleukin 12 receptor, beta 1 deficiency |
| Other name(s)
|
susceptibility to BCG, non tuberculous mycobacterial and salmonella infections
Mendelian susceptibility to mycobacterial diseases
hemopoietin receptor superfamily |
| Corresponding gene
|
IL12RB1
|
| Other symbol(s)
| MSMD, IMD30
|
| Main clinical features
|
the presence of mature granulomas and a secundary impairment of IFNG production
the most common form of susceptibility to mycobacterial disease
Bacillus Calmette-Guerin (BCG) disease and salmonellosis are the most frequent infections; Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| defense and immunity |
| Type
| disease
|