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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.
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).
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).
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.
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.
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).

Professional guidelines

PubMed

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
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
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

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
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
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
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
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

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
Bonilla FA
Immunol Allergy Clin North Am 2020 Aug;40(3):421-435. doi: 10.1016/j.iac.2020.03.004. PMID: 32654690
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
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
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

Prather C, Jeon C
Am J Health Syst Pharm 2022 Oct 21;79(21):1898-1905. doi: 10.1093/ajhp/zxac201. PMID: 35894204
Levy Y, Dabis F
J Acquir Immune Defic Syndr 2018 Oct 1;79 Suppl 1:S1-S2. doi: 10.1097/QAI.0000000000001811. PMID: 30222698
Sun HY, Chang SY, Hung CC
Curr Opin HIV AIDS 2018 Jul;13(4):320-325. doi: 10.1097/COH.0000000000000466. PMID: 29553948
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
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

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
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
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
Hamarsheh O
Int J Infect Dis 2020 Jan;90:18-20. Epub 2019 Oct 21 doi: 10.1016/j.ijid.2019.10.019. PMID: 31648004
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

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
Bomfim IGO, Santos SS, Napoleão AA
AIDS Patient Care STDS 2022 Jul;36(7):278-284. doi: 10.1089/apc.2022.0056. PMID: 35797650
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
Nijhof LN, van Brussel M, Pots EM, van Litsenburg RRL, van de Putte EM, van Montfrans JM, Nijhof SL
J Clin Immunol 2021 Aug;41(6):1198-1207. Epub 2021 Mar 17 doi: 10.1007/s10875-021-01013-7. PMID: 33728554Free PMC Article
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

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
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
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
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
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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