KEGG   DISEASE: IFN-gamma/IL-12 axisHelp
Entry
H00089                      Disease                                

Name
IFN-gamma/IL-12 axis;
Medelian susceptibility to mycobacterial disease (MSMD)
Description
The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe susceptibility to mycobacteria and are very difficult to treat. Mutations in IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00089  IFN-gamma/IL-12 axis
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H00089  IFN-gamma/IL-12 axis
BRITE hierarchy
Gene
IL12B [HSA:3593] [KO:K05425]
IL12RB1 [HSA:3594] [KO:K05063]
IFNGR1 [HSA:3459] [KO:K05132]
IFNGR2 [HSA:3460] [KO:K05133]
STAT1 [HSA:6772] [KO:K11220]
IRF8 [HSA:3394] [KO:K10155]
ISG15 [HSA:9636] [KO:K12159]
RORC [HSA:6097] [KO:K08534]
IKBKG [HSA:8517] [KO:K07210]
CYBB [HSA:1536] [KO:K21421]
Other DBs
ICD-11: 4A00.2
ICD-10: D84.8
OMIM: 614890 614891 209950 615978 614889 614892 613796 614162 614893 226990 616126 616622 300636 300645
Reference
  Authors
Rosenzweig SD, Holland SM
  Title
Phagocyte immunodeficiencies and their infections.
  Journal
J Allergy Clin Immunol 113:620-6 (2004)
DOI:10.1016/j.jaci.2004.02.001
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
  Authors
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  Title
Genetic diagnosis of primary immune deficiencies.
  Journal
Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004
Reference
  Authors
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053
Reference
  Authors
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB
  Title
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
  Journal
J Clin Immunol 35:696-726 (2015)
DOI:10.1007/s10875-015-0201-1
Reference
  Authors
Al-Muhsen S, Casanova JL
  Title
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
  Journal
J Allergy Clin Immunol 122:1043-51; quiz 1052-3 (2008)
DOI:10.1016/j.jaci.2008.10.037
Reference
  Authors
Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL
  Title
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
  Journal
J Med Genet 44:e65 (2007)
DOI:10.1136/jmg.2006.043406

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