KEGG   DISEASE: Disorders of innate immunity
Entry
H02525                      Disease                                
Name
Disorders of innate immunity
  Subgroup
WHIM syndrome [DS:H00097]
Chronic granulomatous disease [DS:H00098]
Leukocyte adhesion deficiency [DS:H00099]
Classic complement pathway component defects [DS:H00102]
Late complement pathway defects [DS:H00103]
Alternative complement pathway component defects [DS:H00104]
Mannose-binding lectin pathway component defects [DS:H00105]
Complement regulatory protein defects [DS:H00106]
Other phagocyte defects [DS:H00101]
IFN-gamma/IL-12 axis [DS:H00089]
Defects of toll-like receptor signaling [DS:H00096]
NK cell defects [DS:H00090]
  Supergrp
Primary immunodeficiency disease [DS:H01725]
Description
Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune response and may worsen outcomes of infection.
Category
Immune system disease
Brite
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
    H02525  Disorders of innate immunity
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06509  DNA replication
   H02525  Disorders of innate immunity
 Signal transduction
  nt06518  JAK-STAT signaling
   H02525  Disorders of innate immunity
  nt06516  TNF signaling
   H02525  Disorders of innate immunity
 Cellular process
  nt06527  Necroptosis
   H02525  Disorders of innate immunity
 Immune system
  nt06519  RLR signaling
   H02525  Disorders of innate immunity
Pathway
hsa04630  JAK-STAT signaling pathway
hsa04668  TNF signaling pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04217  Necroptosis
Network
nt06509 DNA replication
nt06516 TNF signaling
nt06518 JAK-STAT signaling
nt06519 RLR signaling
nt06527 Necroptosis
Gene
(IMD44) STAT2 [HSA:6773] [KO:K11221]
(IMD45) IFNAR2 [HSA:3455] [KO:K05131]
(IMD57) RIPK1 [HSA:8737] [KO:K02861]
(IMD63) IL2RB [HSA:3560] [KO:K05069]
(IMD65) IRF9 [HSA:10379] [KO:K04693]
(IMD77) MPEG1 [HSA:219972] [KO:K26547]
(IMD80) MCM10 [HSA:55388] [KO:K10736]
(IMD90) FADD [HSA:8772] [KO:K02373]
(IMD91) ZNFX1 [HSA:57169] [KO:K27391]
(IMD95) IFIH1 [HSA:64135] [KO:K12647]
(IMD106) IFNAR1 [HSA:3454] [KO:K05130]
(IMD115) RNF31 [HSA:55072] [KO:K11974]
(IMD117) IRF1 [HSA:3659] [KO:K09444]
Other DBs
ICD-11: 4A00
MeSH: D000081207
OMIM: 616636 616669 618108 618495 618648 619223 619313 613759 619644 619773 619935 620632 620668
Reference
  Authors
McCusker C, Warrington R
  Title
Primary immunodeficiency.
  Journal
Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
DOI:10.1186/1710-1492-7-S1-S11
Reference
PMID:23391734 (IMD44)
  Authors
Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE
  Title
STAT2 deficiency and susceptibility to viral illness in humans.
  Journal
Proc Natl Acad Sci U S A 110:3053-8 (2013)
DOI:10.1073/pnas.1220098110
Reference
PMID:26424569 (IMD45)
  Authors
Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S
  Title
Human IFNAR2 deficiency: Lessons for antiviral immunity.
  Journal
Sci Transl Med 7:307ra154 (2015)
DOI:10.1126/scitranslmed.aac4227
Reference
PMID:30026316 (IMD57)
  Authors
Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S
  Title
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
  Journal
Science 361:810-813 (2018)
DOI:10.1126/science.aar2641
Reference
PMID:31040184 (IMD63)
  Authors
Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY
  Title
A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
  Journal
J Exp Med 216:1255-1267 (2019)
DOI:10.1084/jem.20182015
Reference
PMID:30826365 (IMD65)
  Authors
Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV, Mendez Echevarria A, Del Rosal Rabes T, Dominguez-Soto A, Lopez-Granados E, Reyburn HT, Rodriguez Pena R
  Title
Impaired control of multiple viral infections in a family with complete IRF9 deficiency.
  Journal
J Allergy Clin Immunol 144:309-312.e10 (2019)
DOI:10.1016/j.jaci.2019.02.019
Reference
PMID:33224153 (IMD77)
  Authors
Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL, Munson GP, Butte MJ
  Title
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-gamma Therapy.
  Journal
Front Immunol 11:601584 (2020)
DOI:10.3389/fimmu.2020.601584
Reference
PMID:32865517 (IMD80)
  Authors
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS
  Title
Human NK cell deficiency as a result of biallelic mutations in MCM10.
  Journal
J Clin Invest 130:5272-5286 (2020)
DOI:10.1172/JCI134966
Reference
PMID:21109225 (IMD90)
  Authors
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL
  Title
Whole-exome-sequencing-based discovery of human FADD deficiency.
  Journal
Am J Hum Genet 87:873-81 (2010)
DOI:10.1016/j.ajhg.2010.10.028
Reference
PMID:33876776 (IMD91)
  Authors
Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Beziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J
  Title
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
  Journal
Proc Natl Acad Sci U S A 118:2102804118 (2021)
DOI:10.1073/pnas.2102804118
Reference
PMID:28606988 (IMD95)
  Authors
Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC
  Title
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
  Journal
J Exp Med 214:1949-1972 (2017)
DOI:10.1084/jem.20161759
Reference
PMID:35091979 (IMD106)
  Authors
Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Aranda-Guillen M, Sardh F, Zuo F, Zhang P, Marcotte H, Marr N, Khan T, Ata M, Al-Ali F, Pescarmona R, Belot A, Beziat V, Zhang Q, Casanova JL, Kampe O, Zhang SY, Hammarstrom L, Pan-Hammarstrom Q
  Title
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.
  Journal
J Clin Immunol 42:471-483 (2022)
DOI:10.1007/s10875-022-01215-7
Reference
PMID:26008899 (IMD115)
  Authors
Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H, Tsitsikov E, Pai SY, Abel L, Al-Herz W, Casanova JL, Israel A, Notarangelo LD
  Title
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
  Journal
J Exp Med 212:939-51 (2015)
DOI:10.1084/jem.20141130
Reference
PMID:36736301 (IMD117)
  Authors
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Turel O, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guerin A, Bastard P, Moncada-Velez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Perez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudee C, Paz MEJ, Gonzalez ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martinez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Levy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Beziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J
  Title
Human IRF1 governs macrophagic IFN-gamma immunity to mycobacteria.
  Journal
Cell 186:621-645.e33 (2023)
DOI:10.1016/j.cell.2022.12.038
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