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 [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H02525  Disorders of innate immunity
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

Related
pathway

hsa04217

Necroptosis

hsa04621

NOD-like receptor signaling pathway

hsa04620

Toll-like receptor signaling pathway

hsa04630

JAK-STAT signaling pathway

Network

nt06509 DNA replication

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]
(IMD80) MCM10 [HSA:55388] [KO:K10736]

Other DBs

ICD-11:

4A00

MeSH:

D000081207

OMIM:

616636 616669 618108 618495 618648 619223 619313

Reference

PMID:22165913

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

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (7)   
   OMIM (7)   
Gene (13)   
   KEGG ORTHOLOGY (6)   
   KEGG GENES (7)   
Literature (8)   
   PubMed (8)   
All databases (30)   

Download RDF