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Condition report · Immunological

Mendelian Susceptibility to Mycobacterial Disease

Inherited defects in interferon-gamma immunity that predispose to severe infections with weak mycobacteria such as the BCG vaccine and environmental mycobacteria, as well as tuberculosis and salmonella. Genes include IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, TYK2, ISG15 and RORC.

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The 5 conditions we analyse

Mendelian susceptibility to mycobacterial disease

Inherited defects in the IL-12/interferon-gamma pathway, caused by genes such as IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 and RORC.

What a diagnosis changes

Affected people and at-risk relatives should avoid BCG and other live vaccines, infections need prolonged treatment, and some forms respond to interferon-gamma.

Genes analysed

Also known as

idiopathic infection caused by BCG or atypical mycobacteria; Mendelian susceptibility to atypical mycobacteria; Mendelian susceptibility to mycobacterial infections; MSMD; Mycobacterium caused genetic susceptibility to infections due to particular pathogens; Mycobacterium genetic susceptibility to infections due to particular pathogens

Includes 15 related subtypes ↓
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
  • autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • immunodeficiency 27A
  • Mendelian susceptibility to mycobacterial diseases due to a complete deficiency
  • Mendelian susceptibility to mycobacterial diseases due to a partial deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
  • X-linked Mendelian susceptibility to mycobacterial diseases
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
MONDO:0019146Orphanet 748MedGen 473805

Complete IFN-gamma receptor 2 deficiency

Autosomal recessive

Severe, early mycobacterial infections caused by changes in both copies of IFNGR2.

What a diagnosis changes

Stem cell transplantation is usually needed, as interferon-gamma treatment does not work.

Genes analysed

Also known as

IFNGR2 primary immunodeficiency disease; IMD28; immunodeficiency type 28; primary immunodeficiency disease caused by mutation in IFNGR2

MONDO:0013953OMIM 614889MedGen 862384

Autosomal recessive IRF8 deficiency

Autosomal recessive

Severe mycobacterial and other infections with absent monocytes and dendritic cells caused by changes in both copies of IRF8.

Genes analysed

Also known as

CAEBV infection; CAEBV syndrome; CEBV; chronic active Epstein-Barr disease; chronic active Epstein-Barr virus infection; chronic EBV infection syndrome; chronic Epstein-Barr virus infection syndrome; IMD32B; immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive; monocyte and dendritic cell deficiency, autosomal recessive

MONDO:0009194OMIM 226990OMIM 614894Orphanet 2566MedGen 1668246

TYK2 deficiency

Autosomal recessive

Mycobacterial and viral infections caused by changes in both copies of TYK2.

Genes analysed

Also known as

autosomal recessive hyper-IgE syndrome due to TYK2 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2; HIES with atypical Mycobacteriosis, autosomal recessive; hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive; IMD35; immunodeficiency type 35; susceptibility to infection due to TYK2 deficiency; TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency; tyrosine kinase 2 deficiency

MONDO:0012682OMIM 611521Orphanet 331226MedGen 409751

Complete STAT1 deficiency

Autosomal recessive

Severe mycobacterial and life-threatening viral infections caused by changes in both copies of STAT1.

What a diagnosis changes

Stem cell transplantation is usually needed.

Genes analysed

Also known as

IMD31B; immunodeficiency type 31B; STAT1 deficiency; susceptibility to viral and mycobacterial infections

MONDO:0013427OMIM 613796Orphanet 391311MedGen 462438

Other immunological conditions

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