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Immunodeficiency 79(IMD79)

MedGen UID:
1783683
•Concept ID:
C5543220
•
Disease or Syndrome
Synonym: CD4 deficiency
 
Gene (location): CD4 (12p13.31)
 
Monarch Initiative: MONDO:0030981
OMIM®: 619238

Definition

Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells (summary by Lisco et al., 2021). [from OMIM]

Clinical features

From HPO
Disseminated cutaneous warts
MedGen UID:
1708110
•Concept ID:
C5139200
•
Neoplastic Process
Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.
See: Feature record | Search on this feature
Palmar warts
MedGen UID:
1715513
•Concept ID:
C5397992
•
Disease or Syndrome
Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).
See: Feature record | Search on this feature
Recurrent upper respiratory tract infections
MedGen UID:
154380
•Concept ID:
C0581381
•
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
Decreased proportion of CD4-positive T cells
MedGen UID:
1698933
•Concept ID:
C5139203
•
Finding
A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.
See: Feature record | Search on this feature
Plantar wart
MedGen UID:
53003
•Concept ID:
C0042548
•
Disease or Syndrome
Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Diagnosis and Treatment of Lip Infections.
Amin D, Satishchandran S, Drew S, Abramowicz S
J Oral Maxillofac Surg 2021 Jan;79(1):133-140. Epub 2020 Jun 20 doi: 10.1016/j.joms.2020.06.025. PMID: 32673574
Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.
Soler-Palacín P, de Gracia J, González-Granado LI, Martín C, Rodríguez-Gallego C, Sánchez-Ramón S; Lung ID-Signal Group
Respir Res 2018 Nov 12;19(1):219. doi: 10.1186/s12931-018-0923-8. PMID: 30419907Free PMC Article

Recent clinical studies

Etiology

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease.
Daza-Cajigal V, Segura-Guerrero M, López-Cueto M, Robles-Marhuenda Á, Camara C, Gerra-Galán T, Gómez-de-la-Torre R, Avendaño-Monje CL, Sánchez-Ramón S, Bosque-Lopez MJ, Quintero-Duarte A, Bonet-Vidal ML, Pons J
Front Immunol 2023;14:1197361. Epub 2023 Jun 5 doi: 10.3389/fimmu.2023.1197361. PMID: 37342345Free PMC Article
The global burden of HIV-associated cryptococcal infection in adults in 2020: a modelling analysis.
Rajasingham R, Govender NP, Jordan A, Loyse A, Shroufi A, Denning DW, Meya DB, Chiller TM, Boulware DR
Lancet Infect Dis 2022 Dec;22(12):1748-1755. Epub 2022 Aug 29 doi: 10.1016/S1473-3099(22)00499-6. PMID: 36049486Free PMC Article
Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults.
Fortier JC, Haltigan E, Cavero-Chavez V, Gomez-Manjarres D, Squire JD, Reeves WH, Cuervo-Pardo L
J Clin Immunol 2022 Aug;42(6):1270-1279. Epub 2022 May 19 doi: 10.1007/s10875-022-01290-w. PMID: 35588029
Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.
Soler-Palacín P, de Gracia J, González-Granado LI, Martín C, Rodríguez-Gallego C, Sánchez-Ramón S; Lung ID-Signal Group
Respir Res 2018 Nov 12;19(1):219. doi: 10.1186/s12931-018-0923-8. PMID: 30419907Free PMC Article

Diagnosis

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
The global burden of HIV-associated cryptococcal infection in adults in 2020: a modelling analysis.
Rajasingham R, Govender NP, Jordan A, Loyse A, Shroufi A, Denning DW, Meya DB, Chiller TM, Boulware DR
Lancet Infect Dis 2022 Dec;22(12):1748-1755. Epub 2022 Aug 29 doi: 10.1016/S1473-3099(22)00499-6. PMID: 36049486Free PMC Article
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, Aghamahdi F, Abolhassani H, Condliffe AM, Aghamohammadi A, Azizi G
Clin Rev Allergy Immunol 2020 Dec;59(3):323-333. doi: 10.1007/s12016-019-08738-9. PMID: 31111319
Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.
Soler-Palacín P, de Gracia J, González-Granado LI, Martín C, Rodríguez-Gallego C, Sánchez-Ramón S; Lung ID-Signal Group
Respir Res 2018 Nov 12;19(1):219. doi: 10.1186/s12931-018-0923-8. PMID: 30419907Free PMC Article
Adult Patients With Bronchiectasis: A First Look at the US Bronchiectasis Research Registry.
Aksamit TR, O'Donnell AE, Barker A, Olivier KN, Winthrop KL, Daniels MLA, Johnson M, Eden E, Griffith D, Knowles M, Metersky M, Salathe M, Thomashow B, Tino G, Turino G, Carretta B, Daley CL; Bronchiectasis Research Registry Consortium
Chest 2017 May;151(5):982-992. Epub 2016 Nov 23 doi: 10.1016/j.chest.2016.10.055. PMID: 27889361Free PMC Article

Therapy

Comparative efficacy and acceptability of non-pharmacological interventions for depression in people living with HIV: A systematic review and network meta-analysis.
Zhao T, Tang C, Yan H, Lu Q, Guo M, Wang H
Int J Nurs Stud 2023 Apr;140:104452. Epub 2023 Feb 6 doi: 10.1016/j.ijnurstu.2023.104452. PMID: 36821952
Cabotegravir: The first long-acting injectable for HIV pre-exposure prophylaxis.
Prather C, Jeon C
Am J Health Syst Pharm 2022 Oct 21;79(21):1898-1905. doi: 10.1093/ajhp/zxac201. PMID: 35894204
Dolutegravir-rilpivirine coformulation.
Sun HY, Chang SY, Hung CC
Curr Opin HIV AIDS 2018 Jul;13(4):320-325. doi: 10.1097/COH.0000000000000466. PMID: 29553948
Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.
Müller M, Wandel S, Colebunders R, Attia S, Furrer H, Egger M; IeDEA Southern and Central Africa
Lancet Infect Dis 2010 Apr;10(4):251-61. doi: 10.1016/S1473-3099(10)70026-8. PMID: 20334848Free PMC Article
A placebo-controlled trial of oral cladribine for relapsing multiple sclerosis.
Giovannoni G, Comi G, Cook S, Rammohan K, Rieckmann P, Soelberg Sørensen P, Vermersch P, Chang P, Hamlett A, Musch B, Greenberg SJ; CLARITY Study Group
N Engl J Med 2010 Feb 4;362(5):416-26. Epub 2010 Jan 20 doi: 10.1056/NEJMoa0902533. PMID: 20089960

Prognosis

Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease.
Daza-Cajigal V, Segura-Guerrero M, López-Cueto M, Robles-Marhuenda Á, Camara C, Gerra-Galán T, Gómez-de-la-Torre R, Avendaño-Monje CL, Sánchez-Ramón S, Bosque-Lopez MJ, Quintero-Duarte A, Bonet-Vidal ML, Pons J
Front Immunol 2023;14:1197361. Epub 2023 Jun 5 doi: 10.3389/fimmu.2023.1197361. PMID: 37342345Free PMC Article
HIV-related mortality in the United States during the COVID-19 pandemic: A population-based study.
He X, Lv F, Fox M, Yeo YH, Zou B, Liu J, Zhao Y, Zu J, Li Y, Tang W, Zhang L, Ji F
J Intern Med 2023 Aug;294(2):178-190. Epub 2023 May 4 doi: 10.1111/joim.13647. PMID: 37095702
Immune globulin therapy and kidney disease: Overview and screening, monitoring, and management recommendations.
Kobayashi RH, Rigas MT
Am J Health Syst Pharm 2022 Aug 19;79(17):1415-1423. doi: 10.1093/ajhp/zxac139. PMID: 35595720Free PMC Article
Prostate Cancer Screening and Incidence among Aging Persons Living with HIV.
Leapman MS, Stone K, Wadia R, Park LS, Gibert CL, Goetz MB, Bedimo R, Rodriguez-Barradas M, Shebl F, Justice AC, Brown ST, Crothers K, Sigel KM
J Urol 2022 Feb;207(2):324-332. Epub 2021 Sep 24 doi: 10.1097/JU.0000000000002249. PMID: 34555924Free PMC Article
Global, regional, and national incidence, prevalence, and mortality of HIV, 1980-2017, and forecasts to 2030, for 195 countries and territories: a systematic analysis for the Global Burden of Diseases, Injuries, and Risk Factors Study 2017.
GBD 2017 HIV collaborators
Lancet HIV 2019 Dec;6(12):e831-e859. Epub 2019 Aug 19 doi: 10.1016/S2352-3018(19)30196-1. PMID: 31439534Free PMC Article

Clinical prediction guides

Clinical features of Cytomegalovirus retinitis in patients with acquired immunodeficiency syndrome and efficacy of the current therapy.
Zhao Q, Li NN, Chen YX, Zhao XY
Front Cell Infect Microbiol 2023;13:1107237. Epub 2023 May 26 doi: 10.3389/fcimb.2023.1107237. PMID: 37305416Free PMC Article
Performance of Cardiovascular Risk Prediction Models Among People Living With HIV: A Systematic Review and Meta-analysis.
Soares C, Kwok M, Boucher KA, Haji M, Echouffo-Tcheugui JB, Longenecker CT, Bloomfield GS, Ross D, Jutkowtiz E, Sullivan JL, Rudolph JL, Wu WC, Erqou S
JAMA Cardiol 2023 Feb 1;8(2):139-149. doi: 10.1001/jamacardio.2022.4873. PMID: 36576812Free PMC Article
Adherence to Antiretroviral Therapy in People Living with HIV/AIDS: A Cross-Sectional Study.
Bomfim IGO, Santos SS, Napoleão AA
AIDS Patient Care STDS 2022 Jul;36(7):278-284. doi: 10.1089/apc.2022.0056. PMID: 35797650
Knowledge About HIV/AIDS and Its Transmission and Misconception Among Women in Bangladesh.
Bhowmik J, Biswas RK
Int J Health Policy Manag 2022 Dec 6;11(11):2542-2551. Epub 2022 Feb 8 doi: 10.34172/ijhpm.2022.6321. PMID: 35174677Free PMC Article
The effectiveness of home-based HIV counseling and testing on reducing stigma and risky sexual behavior among adults and adolescents: A systematic review and meta-analyses.
Feyissa GT, Lockwood C, Munn Z
JBI Database System Rev Implement Rep 2015 Jul 17;13(6):318-72. doi: 10.11124/jbisrir-2015-2235. PMID: 26455755

Recent systematic reviews

Prevalence of human immunodeficiency virus, syphilis, and hepatitis B and C virus infections in pregnant women: a systematic review and meta-analysis.
Wu S, Wang J, Guo Q, Lan H, Sun Y, Ren M, Liu Y, Wang P, Wang L, Su R, Zhang J, Chen Y, Li G
Clin Microbiol Infect 2023 Aug;29(8):1000-1007. Epub 2023 Mar 13 doi: 10.1016/j.cmi.2023.03.002. PMID: 36921717
Comparison of Different Anti-Demodex Strategies: A Systematic Review and Meta-Analysis.
Li J, Wei E, Reisinger A, French LE, Clanner-Engelshofen BM, Reinholz M
Dermatology 2023;239(1):12-31. Epub 2022 Oct 28 doi: 10.1159/000526296. PMID: 36310014
Multisystem inflammatory syndrome in children related to COVID-19: a systematic review.
Hoste L, Van Paemel R, Haerynck F
Eur J Pediatr 2021 Jul;180(7):2019-2034. Epub 2021 Feb 18 doi: 10.1007/s00431-021-03993-5. PMID: 33599835Free PMC Article
Phlebotonics for venous insufficiency.
Martinez-Zapata MJ, Vernooij RW, Simancas-Racines D, Uriona Tuma SM, Stein AT, Moreno Carriles RMM, Vargas E, Bonfill Cosp X
Cochrane Database Syst Rev 2020 Nov 3;11(11):CD003229. doi: 10.1002/14651858.CD003229.pub4. PMID: 33141449Free PMC Article
Idiopathic multicentric Castleman's disease: a systematic literature review.
Liu AY, Nabel CS, Finkelman BS, Ruth JR, Kurzrock R, van Rhee F, Krymskaya VP, Kelleher D, Rubenstein AH, Fajgenbaum DC
Lancet Haematol 2016 Apr;3(4):e163-75. Epub 2016 Mar 17 doi: 10.1016/S2352-3026(16)00006-5. PMID: 27063975

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      Related medical variations
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      Related information in NCBI Gene
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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