Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Orpha code: 319552OMIM code: 614891

Definition

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections.

Disease data
Classification

Disease

Synonyms
MSMD due to complete IL12RB1 deficiency
Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora beta 1 dla interleukiny 12
MSMD z powodu całkowitego niedoboru IL12RB1
MSMD z powodu całkowitego niedoboru receptora beta 1 dla interleukiny 12
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
ORPHA code
319552
OMIM code
614891
ICD10 code
D84.8
ICD11 code
-

No additional description.

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