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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

Secondary hypogammaglobulinemia in patients with multiple sclerosis on anti-CD20 therapy: Pathogenesis, risk of infection, and disease management.
Alvarez E, Longbrake EE, Rammohan KW, Stankiewicz J, Hersh CM
Mult Scler Relat Disord 2023 Nov;79:105009. Epub 2023 Sep 15 doi: 10.1016/j.msard.2023.105009. PMID: 37783194
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

Recent clinical studies

Etiology

HIV and Substance Use Disorders.
Lier AJ, Tarfa A, Shenoi SV, Kuo I, Springer SA
Infect Dis Clin North Am 2024 Sep;38(3):599-611. Epub 2024 Jul 2 doi: 10.1016/j.idc.2024.06.003. PMID: 38960783Free PMC Article
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group
Lancet Haematol 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. PMID: 38302222
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
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

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
Vaccines in Patients with Primary Immune Deficiency.
Bonilla FA
Immunol Allergy Clin North Am 2020 Aug;40(3):421-435. doi: 10.1016/j.iac.2020.03.004. PMID: 32654690
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

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
HIV/AIDS: an update.
Harris A, Bolus NE
Radiol Technol 2008 Jan-Feb;79(3):243-52; quiz 253-5. PMID: 18203878
Incidence of cancers in people with HIV/AIDS compared with immunosuppressed transplant recipients: a meta-analysis.
Grulich AE, van Leeuwen MT, Falster MO, Vajdic CM
Lancet 2007 Jul 7;370(9581):59-67. doi: 10.1016/S0140-6736(07)61050-2. PMID: 17617273

Prognosis

Longitudinal trends in causes of death among adults with HIV on antiretroviral therapy in Europe and North America from 1996 to 2020: a collaboration of cohort studies.
Trickey A, McGinnis K, Gill MJ, Abgrall S, Berenguer J, Wyen C, Hessamfar M, Reiss P, Kusejko K, Silverberg MJ, Imaz A, Teira R, d'Arminio Monforte A, Zangerle R, Guest JL, Papastamopoulos V, Crane H, Sterling TR, Grabar S, Ingle SM, Sterne JAC
Lancet HIV 2024 Mar;11(3):e176-e185. Epub 2024 Jan 24 doi: 10.1016/S2352-3018(23)00272-2. PMID: 38280393
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
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
Incidence of cancers in people with HIV/AIDS compared with immunosuppressed transplant recipients: a meta-analysis.
Grulich AE, van Leeuwen MT, Falster MO, Vajdic CM
Lancet 2007 Jul 7;370(9581):59-67. doi: 10.1016/S0140-6736(07)61050-2. PMID: 17617273
Monoclonal gammopathies in children.
Gerritsen E, Vossen J, van Tol M, Jol-van der Zijde C, Van der Weijden-Ragas R, Radl J
J Clin Immunol 1989 Jul;9(4):296-305. doi: 10.1007/BF00918661. PMID: 2504763

Clinical prediction guides

Longitudinal trends in causes of death among adults with HIV on antiretroviral therapy in Europe and North America from 1996 to 2020: a collaboration of cohort studies.
Trickey A, McGinnis K, Gill MJ, Abgrall S, Berenguer J, Wyen C, Hessamfar M, Reiss P, Kusejko K, Silverberg MJ, Imaz A, Teira R, d'Arminio Monforte A, Zangerle R, Guest JL, Papastamopoulos V, Crane H, Sterling TR, Grabar S, Ingle SM, Sterne JAC
Lancet HIV 2024 Mar;11(3):e176-e185. Epub 2024 Jan 24 doi: 10.1016/S2352-3018(23)00272-2. PMID: 38280393
Bone Mineral Density and Trabecular Bone Score Changes throughout Menopause in Women with HIV.
Milic J, Renzetti S, Morini D, Motta F, Carli F, Menozzi M, Cuomo G, Mancini G, Simion M, Romani F, Spadoni A, Baldisserotto I, Barp N, Diazzi C, Mussi C, Mussini C, Rochira V, Calza S, Guaraldi G
Viruses 2023 Dec 1;15(12) doi: 10.3390/v15122375. PMID: 38140615Free PMC Article
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
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
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
Diagnostic accuracy of serum (1-3)-β-D-glucan for Pneumocystis jirovecii pneumonia: a systematic review and meta-analysis.
Del Corpo O, Butler-Laporte G, Sheppard DC, Cheng MP, McDonald EG, Lee TC
Clin Microbiol Infect 2020 Sep;26(9):1137-1143. Epub 2020 May 30 doi: 10.1016/j.cmi.2020.05.024. PMID: 32479781
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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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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