KEGG   DISEASE: IFN-gamma/IL-12 軸
エントリ  
H00089                      Disease                                
名称    
IFN-gamma/IL-12 軸;
メンデル遺伝型マイコバクテリア易感染症 (MSMD)
  上位グループ
自然免疫の障害 [DS:H02525]
原発性免疫不全症 [DS:H01725]
概要    
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.
カテゴリ  
原発性免疫不全症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  原発性免疫不全症
   4A00  自然免疫の疾患よる原発性免疫不全症
    H00089  IFN-gamma/IL-12 軸
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06518  JAK-STAT シグナリング
   H00089  IFN-gamma/IL-12 軸
パスウェイ 
hsa04630  JAK-STAT signaling pathway
ネットワーク
nt06518 JAK-STAT signaling
病因遺伝子 
(IMD27) IFNGR1 [HSA:3459] [KO:K05132]
(IMD28) IFNGR2 [HSA:3460] [KO:K05133]
(IMD29) IL12B [HSA:3593] [KO:K05425]
(IMD30) IL12RB1 [HSA:3594] [KO:K05063]
(IMD31) STAT1 [HSA:6772] [KO:K11220]
(IMD32) IRF8 [HSA:3394] [KO:K10155]
(IMD33) IKBKG [HSA:8517] [KO:K07210]
(IMD34) CYBB [HSA:1536] [KO:K21421]
(IMD38) ISG15 [HSA:9636] [KO:K12159]
(IMD42) RORC [HSA:6097] [KO:K08534]
リンク   
ICD-11: 4A00.2
OMIM: 209950 615978 614889 614890 614891 614892 613796 614162 614893 226990 300636 300645 616126 616622
文献    
  著者
Rosenzweig SD, Holland SM
  タイトル
Phagocyte immunodeficiencies and their infections.
  雑誌
J Allergy Clin Immunol 113:620-6 (2004)
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  雑誌
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文献    
  著者
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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
  雑誌
J Clin Immunol 35:696-726 (2015)
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文献    
  著者
Al-Muhsen S, Casanova JL
  タイトル
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  雑誌
J Allergy Clin Immunol 122:1043-51; quiz 1052-3 (2008)
DOI:10.1016/j.jaci.2008.10.037
文献    
PMID:8960475 (IMD27A)
  著者
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  タイトル
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  雑誌
N Engl J Med 335:1956-61 (1996)
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文献    
PMID:10192386 (IMD27B)
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  雑誌
Nat Genet 21:370-8 (1999)
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文献    
PMID:15924140 (IMD28)
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  雑誌
Nat Genet 37:692-700 (2005)
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文献    
PMID:9854038 (IMD29)
  著者
Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS
  タイトル
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection.
  雑誌
J Clin Invest 102:2035-40 (1998)
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文献    
PMID:9603733 (IMD30)
  著者
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  タイトル
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients.
  雑誌
Science 280:1435-8 (1998)
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文献    
PMID:11452125 (IMD31A)
  著者
Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, Holland SM, Schreiber RD, Casanova JL
  タイトル
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.
  雑誌
Science 293:300-3 (2001)
DOI:10.1126/science.1061154
文献    
PMID:12590259 (IMD31B)
  著者
Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL
  タイトル
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
  雑誌
Nat Genet 33:388-91 (2003)
DOI:10.1038/ng1097
文献    
PMID:21727188 (IMD31C)
  著者
Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulacsy V, Chernyshova L, Chernyshov V, Bondarenko A, Maria Cortes Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bue M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Marodi L, Boisson-Dupuis S, Puel A, Casanova JL
  タイトル
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
  雑誌
J Exp Med 208:1635-48 (2011)
DOI:10.1084/jem.20110958
文献    
PMID:21524210 (IMD32A IMD32B)
  著者
Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong XF, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova JL, Gros P
  タイトル
IRF8 mutations and human dendritic-cell immunodeficiency.
  雑誌
N Engl J Med 365:127-38 (2011)
DOI:10.1056/NEJMoa1100066
文献    
PMID:15356572 (IMD33)
  著者
Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS
  タイトル
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
  雑誌
J Allergy Clin Immunol 114:650-6 (2004)
DOI:10.1016/j.jaci.2004.06.052
文献    
PMID:21278736 (IMD34)
  著者
Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Janniere L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL
  タイトル
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
  雑誌
Nat Immunol 12:213-21 (2011)
DOI:10.1038/ni.1992
文献    
PMID:22859821 (IMD38)
  著者
Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL
  タイトル
Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency.
  雑誌
Science 337:1684-8 (2012)
DOI:10.1126/science.1224026
文献    
PMID:26160376 (IMD42)
  著者
Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL
  タイトル
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
  雑誌
Science 349:606-613 (2015)
DOI:10.1126/science.aaa4282
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