Entry

H01563                      Disease

Name

HIV infection

Description

The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS). Two types of HIV has been characterized. HIV-1 is the most virulent and pathogenic strain. Worldwide, the predominant virus is HIV-1. The relatively uncommon HIV-2 type is concentrated in West Africa and is rarely found elsewhere. Infection with HIV occurs by transfer of blood, semen, and breast milk. The identification of HIV as the causative agent of AIDS catalyzed efforts to develop antiviral agents. The licenced anti-HIV drugs fall into some categories: reverse transcriptase inhibitors (NRTIs and NNRTIs), integrase inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV infection was seminal in reducing the morbidity and mortality associated with HIV infection and progression to AIDS. Combination antiretroviral therapy dramatically suppresses HIV replication and reduces the plasma HIV-1 viral load, resulting in significant reconstitution of the immune system. Genetic susceptibility to HIV infection and AIDS progression is variable among individuals and populations, and in part genetically determined. Genetic variants of genes encoding HIV co-receptors and their chemokine ligands have been described, and some of these variants were associated with resistance to HIV infection and/or disease progression.

Category

Infectious disease

Brite

Infectious diseases [BR:br08401]
Viral infections
  Infections caused by ssRNA-RT viruses
   H01563  HIV infection
Human diseases in ICD-11 classification [BR:br08403]
01 Certain infectious or parasitic diseases
  Human immunodeficiency virus disease
   1C62  Human immunodeficiency virus disease without mention of tuberculosis or malaria
    H01563  HIV infection

Pathway

hsa05170

Human immunodeficiency virus 1 infection

Related
pathway

hsa04060

Cytokine-cytokine receptor interaction

hsa04061

Viral protein interaction with cytokine and cytokine receptor

hsa04062

Chemokine signaling pathway

hsa04620

Toll-like receptor signaling pathway

Network

nt06121  TLR signaling (viruses and bacteria)
nt06123  TNF signaling (viruses and bacteria)
nt06124  Chemokine signaling (viruses)
nt06129  MHC presentation (viruses)
nt06130  Cell cycle (viruses)
nt06131  Apoptosis (viruses and bacteria)
nt06134  CGAS-STING signaling (viruses and bacteria)
nt06150  Cytokine-cytokine receptor interaction (viruses)
nt06161  Human immunodeficiency virus type 1 (HIV-1)

Gene

CCR5 (resistance) [HSA:1234] [KO:K04180]
CCR2 (resistance) [HSA:729230] [KO:K04177]
TLR3 (resistance) [HSA:7098] [KO:K05401]
CXCL12 (resistance) [HSA:6387] [KO:K10031]
CCL2 (resistance) [HSA:6347] [KO:K14624]
CCL3 (resistance) [HSA:6348] [KO:K05408]
CCL11 (resistance) [HSA:6356] [KO:K16597]
IL10 (susceptibility) [HSA:3586] [KO:K05443]
CD209 (susceptibility) [HSA:30835] [KO:K06563]
HLA-C (susceptibility) [HSA:3107] [KO:K06751]
CCL3L1 (susceptibility) [HSA:6349] [KO:K05408]
IFNG (rapid progression) [HSA:3458] [KO:K04687]
CX3CR1 (rapid progression) [HSA:1524] [KO:K04192]
CXCR1 (slow progression) [HSA:3577] [KO:K04175]
IL4R (slow progression) [HSA:3566] [KO:K05071]
CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499]
KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980]

Pathogen

Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
Human immunodeficiency virus 2 (HIV-2) [GN:T40002]

Drug

Somatropin [DR:D02691]
Saquinavir mesylate [DR:D01160]
Indinavir sulfate [DR:D00897]
Ritonavir [DR:D00427]
Nelfinavir mesylate [DR:D00899]
Fosamprenavir calcium [DR:D03835]
Atazanavir sulfate [DR:D01276]
Tipranavir [DR:D08605]
Darunavir ethanolate [DR:D06478]
Zidovudine [DR:D00413]
Didanosine [DR:D00296]
Stavudine [DR:D00445]
Lamivudine [DR:D00353]
Abacavir sulfate [DR:D00891]
Tenofovir disoproxil fumarate [DR:D01982]
Emtricitabine [DR:D01199]
Nevirapine [DR:D00435]
Delavirdine mesylate [DR:D00895]
Efavirenz [DR:D00896]
Etravirine [DR:D04112]
Rilpivirine hydrochloride [DR:D09958]
Doravirine [DR:D10624]
Raltegravir potassium [DR:D07133]
Elvitegravir [DR:D06677]
Dolutegravir sodium [DR:D10113]
Cabotegravir sodium [DR:D10549]
Zidovudine and lamivudine [DR:D07507]
Abacavir sulfate and lamivudine [DR:D08775]
Emtricitabine and tenofovir disoproxil [DR:D02297]
Abacavir, lamivudine and zidovudine [DR:D10838]
Lamivudine, nevirapine and zidovudine [DR:D11521]
Efavirenz, emtricitabine and tenofovir disoproxil [DR:D10851]
Rilpivirine hydrochloride, tenofovir disoproxil fumarate and emtricitabine [DR:D10571]
Elvitegravir, cobicistat, emtricitabine and tenofovir disoproxil [DR:D10756]
Lopinavir and ritonavir [DR:D02498]
Efavirenz, lamivudine and tenofovir disoproxil fumarate [DR:D11392]
Lamivudine and tenofovir disoproxil [DR:D11395]
Dolutegravir, abacavir and lamivudine [DR:D10600]
Darunavir and cobicistat [DR:D10832]
Atazanavir and cobicistat [DR:D10753]
Emtricitabine and tenofovir alafenamide [DR:D10835]
Elvitegravir, cobicistat, emtricitabine and tenofovir alafenamide [DR:D10755]
Emtricitabine, rilpivirine and tenofovir alafenamide [DR:D10836]
Bictegravir, emtricitabine and tenofovir alafenamide [DR:D11039]
Dolutegravir sodium and rilpivirine hydrochloride [DR:D11282]
Darunavir, cobicistat, emtricitabine and tenofovir alafenamide [DR:D11382]
Doravirine, lamivudine and tenofovir disoproxil [DR:D11396]
Dolutegravir and lamivudine [DR:D11522]
Enfuvirtide [DR:D02499]
Maraviroc [DR:D06670] (CCR5-tropic)
Ibalizumab [DR:D09575]
Fostemsavir tromethamine [DR:D10708]
Cobicistat [DR:D09881]
Cabotegravir and rilpivirine [DR:D11966]

Comment

See also H00406 Acquired immunodeficiency syndrome (AIDS).

Other DBs

ICD-11:

1C62

ICD-10:

B24

MeSH:

D015658

OMIM:

609423

Reference

PMID:21838892

Authors

Yousaf MZ, Zia S, Babar ME, Ashfaq UA

Title

The epidemic of HIV/AIDS in developing countries; the current scenario in Pakistan.

Journal

Virol J 8:401 (2011)
DOI:10.1186/1743-422X-8-401

Reference

PMID:20149939 (CCR5)

Authors

An P, Winkler CA

Title

Host genes associated with HIV/AIDS: advances in gene discovery.

Journal

Trends Genet 26:119-31 (2010)
DOI:10.1016/j.tig.2010.01.002

Reference

PMID:16978874 (CCR5, CCR2, CX3CR1, CCL3, CCL4, CCL5, CXCL12)

Authors

Arenzana-Seisdedos F, Parmentier M

Title

Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands.

Journal

Semin Immunol 18:387-403 (2006)
DOI:10.1016/j.smim.2006.07.007

Reference

PMID:15167933 (CCR5, CCR2, CCL5, CXCL12, CXCR6, CCL2, CCL7. CCL11, IL10)

Authors

O'Brien SJ, Nelson GW

Title

Human genes that limit AIDS.

Journal

Nat Genet 36:565-74 (2004)
DOI:10.1038/ng1369

Reference

PMID:22174453 (TLR3)

Authors

Sironi M, Biasin M, Cagliani R, Forni D, De Luca M, Saulle I, Lo Caputo S, Mazzotta F, Macias J, Pineda JA, Caruz A, Clerici M

Title

A common polymorphism in TLR3 confers natural resistance to HIV-1 infection.

Journal

J Immunol 188:818-23 (2012)
DOI:10.4049/jimmunol.1102179

Reference

PMID:11121048 (IL10)

Authors

Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ, O'Brien TR, Vlahov D, Buchbinder S, Giorgi J, Rinaldo C, Donfield S, Willoughby A, O'Brien SJ, Smith MW

Title

Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10.

Journal

Proc Natl Acad Sci U S A 97:14467-72 (2000)
DOI:10.1073/pnas.97.26.14467

Reference

PMID:15564514 (CD209)

Authors

Martin MP, Lederman MM, Hutcheson HB, Goedert JJ, Nelson GW, van Kooyk Y, Detels R, Buchbinder S, Hoots K, Vlahov D, O'Brien SJ, Carrington M

Title

Association of DC-SIGN promoter polymorphism with increased risk for parenteral, but not mucosal, acquisition of human immunodeficiency virus type 1 infection.

Journal

J Virol 78:14053-6 (2004)
DOI:10.1128/JVI.78.24.14053-14056.2004

Reference

PMID:30128812 (HLA-C)

Authors

Bardeskar NS, Chavan V, Ahir-Bist S, Nanavati R, Samant-Mavani P, Mehta P, Mania-Pramanik J

Title

Human leukocyte antigen (HLA)-C and its association with HIV-1 transmission in discordant couple and mother-to-child cohorts.

Journal

Immunogenetics 70:633-638 (2018)
DOI:10.1007/s00251-018-1075-1

Reference

PMID:19812560 (CCL3L1)

Authors

Urban TJ, Weintrob AC, Fellay J, Colombo S, Shianna KV, Gumbs C, Rotger M, Pelak K, Dang KK, Detels R, Martinson JJ, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF, Carrington M, Telenti A, Michael NL, Goldstein DB

Title

CCL3L1 and HIV/AIDS susceptibility.

Journal

Nat Med 15:1110-2 (2009)
DOI:10.1038/nm1009-1110

Reference

PMID:12854077 (IFNG)

Authors

An P, Vlahov D, Margolick JB, Phair J, O'Brien TR, Lautenberger J, O'Brien SJ, Winkler CA

Title

A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.

Journal

J Infect Dis 188:228-31 (2003)
DOI:10.1086/376455

Reference

PMID:10731151 (CX3CR1)

Authors

Faure S, Meyer L, Costagliola D, Vaneensberghe C, Genin E, Autran B, Delfraissy JF, McDermott DH, Murphy PM, Debre P, Theodorou I, Combadiere C

Title

Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.

Journal

Science 287:2274-7 (2000)
DOI:10.1126/science.287.5461.2274

Reference

PMID:17360650 (CXCR1)

Authors

Vasilescu A, Terashima Y, Enomoto M, Heath S, Poonpiriya V, Gatanaga H, Do H, Diop G, Hirtzig T, Auewarakul P, Lauhakirti D, Sura T, Charneau P, Marullo S, Therwath A, Oka S, Kanegasaki S, Lathrop M, Matsushima K, Zagury JF, Matsuda F

Title

A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients.

Journal

Proc Natl Acad Sci U S A 104:3354-9 (2007)
DOI:10.1073/pnas.0611670104

Reference

PMID:16189667 (IL4R)

Authors

Soriano A, Lozano F, Oliva H, Garcia F, Nomdedeu M, De Lazzari E, Rodriguez C, Barrasa A, Lorenzo JI, Del Romero J, Plana M, Miro JM, Gatell JM, Vives J, Gallart T

Title

Polymorphisms in the interleukin-4 receptor alpha chain gene influence susceptibility to HIV-1 infection and its progression to AIDS.

Journal

Immunogenetics 57:644-54 (2005)
DOI:10.1007/s00251-005-0041-x

Reference

PMID:18976921 (KIR3DL1)

Authors

Carrington M, Martin MP, van Bergen J

Title

KIR-HLA intercourse in HIV disease.

Journal

Trends Microbiol 16:620-7 (2008)
DOI:10.1016/j.tim.2008.09.002

DISEASE: HIV infection