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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
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Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Hoeger PH, Harper JI
Arch Dis Child 1998 Aug;79(2):186-91. doi: 10.1136/adc.79.2.186. PMID: 9797607Free PMC Article

Recent clinical studies

Etiology

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
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
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
Bonagura VR
Clin Exp Immunol 2014 Dec;178 Suppl 1(Suppl 1):7-9. doi: 10.1111/cei.12492. PMID: 25546743Free PMC Article
Blanchard DK
J Fla Med Assoc 1992 Mar;79(3):175-6. PMID: 1573382

Diagnosis

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
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
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
Harris A, Bolus NE
Radiol Technol 2008 Jan-Feb;79(3):243-52; quiz 253-5. PMID: 18203878
Judson FN
Am J Public Health 1989 Jul;79(7):878-82. doi: 10.2105/ajph.79.7.878. PMID: 2660605Free PMC Article

Therapy

Bonilla FA
Immunol Allergy Clin North Am 2020 Aug;40(3):421-435. doi: 10.1016/j.iac.2020.03.004. PMID: 32654690
Sun HY, Chang SY, Hung CC
Curr Opin HIV AIDS 2018 Jul;13(4):320-325. doi: 10.1097/COH.0000000000000466. PMID: 29553948
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
Harris A, Bolus NE
Radiol Technol 2008 Jan-Feb;79(3):243-52; quiz 253-5. PMID: 18203878
Judson FN
Am J Public Health 1989 Jul;79(7):878-82. doi: 10.2105/ajph.79.7.878. PMID: 2660605Free PMC Article

Prognosis

Li J, Xie DD, Cui HL, Yue C, Wang QY, Luo C, Tian L, Sheng ZF
J Med Virol 2024 Jun;96(6):e29724. doi: 10.1002/jmv.29724. PMID: 38837426
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
Xu X, Patel DA, Dalton VK, Pearlman MD, Johnson TR
Am J Mens Health 2009 Mar;3(1):79-84. doi: 10.1177/1557988308323616. PMID: 19430583Free PMC Article
Canosa CA
Acta Paediatr Suppl 1994 Aug;400:8-14. doi: 10.1111/j.1651-2227.1994.tb13325.x. PMID: 7833569

Clinical prediction guides

HIV Transmission Elimination AMsterdam (H-TEAM) Initiative
Euro Surveill 2023 Oct;28(40) doi: 10.2807/1560-7917.ES.2023.28.40.2300515. PMID: 37796442Free PMC Article
Sack DE, Matino A, Graves E, Emilio A, Shepherd BE, De Schacht C, Audet CM
AIDS Care 2023 Nov;35(11):1732-1740. Epub 2022 Dec 6 doi: 10.1080/09540121.2022.2151558. PMID: 36473205Free PMC Article
Truong HM, Guzé MA, Ouma D, Bushman D, Mocello AR, Kadede K, Bukusi EA, Odhiambo F, Cohen CR
AIDS Behav 2022 Mar;26(3):814-821. Epub 2021 Sep 14 doi: 10.1007/s10461-021-03441-3. PMID: 34518938Free PMC Article
Ngwube A, Hanson IC, Orange J, Rider NL, Seeborg F, Shearer W, Noroski L, Nicholas S, Forbes L, Leung K, Sasa G, Naik S, Hegde M, Omer B, Ahmed N, Allen C, Gottschalk S, Wu MF, Liu H, Brenner M, Heslop H, Krance R, Martinez C
Biol Blood Marrow Transplant 2018 Mar;24(3):537-541. Epub 2017 Nov 28 doi: 10.1016/j.bbmt.2017.11.019. PMID: 29196075
Grossi PA, Righi E, Gasperina DD, Donati D, Tozzi M, Mangini M, Astuti N, Cuffari S, Castelli P, Carcano G, Dionigi G, Boggi U, Costa AN, Dionigi R
Am J Transplant 2012 Apr;12(4):1039-45. Epub 2012 Jan 5 doi: 10.1111/j.1600-6143.2011.03906.x. PMID: 22221659

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
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
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
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
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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