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familial atypical mycobacteriosis

MIM.209950

Friday 9 May 2008

Familial disseminated atypical mycobacterial infection and disseminated BCG infection can be caused by defects in the genes encoding:
- interferon-gamma receptor-1 (IFNGR1; MIM.107470) on chromosome 6q23-q24,
- interferon-gamma receptor-2 (IFNGR2; MIM.147569) on 21q22,
- beta-1 chain of the interleukin-12 receptor (IL12RB1; MIM.601604) on 19p13,
- signal transducer and activator of transcription-1 (STAT1; MIM.600555) on 2q32.

Disseminated infection with BCG and Salmonella enteritidis has been associated with isolated deficiency of interleukin-12B (IL12B; MIM.161561).

One form of X-linked susceptibility to mycobacterial disease (MIM.300636) is caused by mutations in the IKBKG gene (MIM.300248).

A second form of X-linked susceptibility to mycobacterial disease (MIM.300645), in which mutations in the IKBKG gene have been excluded, has also been reported.

Mutation in the TYK2 gene (MIM.176941) results in TYK2 deficiency (MIM.611521), a disease entity that includes characteristic features of both autosomal recessive hyper-IgE syndrome (MIM.243700) and mendelian susceptibility to mycobacterial disease.

Etiology

Familial disseminated atypical mycobacterial infection and disseminated BCG infection can be caused by defects in the genes encoding:

- interferon-gamma receptor-1 (IFNGR1) (MIM.107470) on chromosome 6q23-q24
- interferon-gamma receptor-2 (IFNGR2) (MIM.147569) on 21q22
- beta-1 chain of the interleukin-12 receptor (IL12RB1) (MIM.601604) on 19p13
- signal transducer and activator of transcription-1 (STAT1) (MIM.600555) on 2q32.

Disseminated infection with BCG and Salmonella enteriditis has been associated with isolated deficiency of interleukin-12B (IL12B) (MIM.161561).

One form of X-linked susceptibility to mycobacterial disease (MIM.300636) is caused by mutations in the IKBKG gene (MIM.300248).

A second form of X-linked susceptibility to mycobacterial disease (MIM.300645), in which mutations in the IKBKG gene have been excluded, has also been reported.

Mutation in the TYK2 gene (MIM.176941) results in TYK2 deficiency (MIM.611521), a disease entity that includes characteristic features of both autosomal recessive hyper-IgE syndrome (MIM.243700) and mendelian susceptibility to mycobacterial disease.

References

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