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Immunodeficiency 84(IMD84)

MedGen UID:
1794150
Concept ID:
C5561940
Disease or Syndrome
Synonyms: IMD84; IMMUNODEFICIENCY 84
 
Gene (location): IKZF3 (17q12-21.1)
 
Monarch Initiative: MONDO:0030333
OMIM®: 619437

Definition

Immunodeficiency-84 (IMD84) is an autosomal dominant primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients with IMD84 have increased susceptibility to infection with Epstein-Barr virus (EBV) and may develop lymphoma in adulthood (summary by Yamashita et al., 2021). [from OMIM]

Clinical features

From HPO
B-cell lymphoma
MedGen UID:
86953
Concept ID:
C0079731
Neoplastic Process
A type of lymphoma that originates in B-cells.
Perianal abscess
MedGen UID:
14677
Concept ID:
C0031019
Disease or Syndrome
The presence of an abscess located around the anus.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Persistent EBV viremia
MedGen UID:
767466
Concept ID:
C3554552
Finding
Persistent presence of Epstein-Barr virus in the blood.

Professional guidelines

PubMed

Marin S, Quiñones C, Codina-Jiménez C, Valls E, Terricabras E, Estrada L, Cardona G, Andreu À
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Recent clinical studies

Etiology

Lai H, Li R, Li Z, Zhang B, Li C, Song C, Zhao Q, Huang J, Zhu Q, Liang S, Chen H, Li J, Liao L, Shao Y, Xing H, Ruan Y, Lan G, Zhang L, Shen M
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Zhang ZX, Mu XY, Yu J, Guan CS, Chen BD, Xie RM
BMC Med Imaging 2022 Oct 29;22(1):185. doi: 10.1186/s12880-022-00910-6. PMID: 36309647Free PMC Article
Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ, Mathur AN
Pediatr Dermatol 2022 Jan;39(1):84-90. Epub 2022 Jan 5 doi: 10.1111/pde.14905. PMID: 34989033
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
Suthar AB, Nagata JM, Nsanzimana S, Bärnighausen T, Negussie EK, Doherty MC
BMC Health Serv Res 2017 Jan 4;17(1):6. doi: 10.1186/s12913-016-1962-9. PMID: 28052771Free PMC Article

Diagnosis

Lai H, Li R, Li Z, Zhang B, Li C, Song C, Zhao Q, Huang J, Zhu Q, Liang S, Chen H, Li J, Liao L, Shao Y, Xing H, Ruan Y, Lan G, Zhang L, Shen M
J Antimicrob Chemother 2023 Aug 2;78(8):1934-1943. doi: 10.1093/jac/dkad186. PMID: 37311203
Peer N, Nguyen KA, Hill J, Sumner AE, Cikomola JC, Nachega JB, Kengne AP
J Int AIDS Soc 2023 Mar;26(3):e26059. doi: 10.1002/jia2.26059. PMID: 36924213Free PMC Article
Yu HH, Yang YH, Chiang BL
Clin Rev Allergy Immunol 2021 Oct;61(2):101-113. doi: 10.1007/s12016-020-08800-x. PMID: 32524254
Moss JA
Radiol Technol 2013 Jan-Feb;84(3):247-67; quiz p.268-70. PMID: 23322863
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Psychol Health Med 2011 Oct;16(5):528-47. Epub 2011 Jul 21 doi: 10.1080/13548506.2011.579989. PMID: 21777090

Therapy

Pasqualotto AC, Lana DD, Godoy CSM, Leitão TDMJS, Bay MB, Damasceno LS, Soares RBA, Kist R, Silva LR, Wiltgen D, Melo M, Guimarães TF, Guimarães MR, Vechi HT, de Mesquita JRL, Monteiro GRG, Adenis A, Bahr NC, Spec A, Boulware DR, Israelski D, Chiller T, Falci DR
Clin Infect Dis 2023 Oct 13;77(8):1126-1132. doi: 10.1093/cid/ciad313. PMID: 37232940Free PMC Article
Vansant G, Bruggemans A, Janssens J, Debyser Z
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Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
Mason-Jones AJ, Sinclair D, Mathews C, Kagee A, Hillman A, Lombard C
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Sanford M
Drugs 2012 Mar 5;72(4):525-41. doi: 10.2165/11208590-000000000-00000. PMID: 22356290

Prognosis

Bassat Q, Blau DM, Ogbuanu IU, Samura S, Kaluma E, Bassey IA, Sow S, Keita AM, Tapia MD, Mehta A, Kotloff KL, Rahman A, Islam KM, Alam M, El Arifeen S, Gurley ES, Baillie V, Mutevedzi P, Mahtab S, Thwala BN, Tippett Barr BA, Onyango D, Akelo V, Rogena E, Onyango P, Omore R, Mandomando I, Ajanovic S, Varo R, Sitoe A, Duran-Frigola M, Assefa N, Scott JAG, Madrid L, Tesfaye T, Dessie Y, Madewell ZJ, Breiman RF, Whitney CG, Madhi SA; Child Health and Mortality Prevention Surveillance (CHAMPS) Network
JAMA Netw Open 2023 Jul 3;6(7):e2322494. doi: 10.1001/jamanetworkopen.2023.22494. PMID: 37494044Free PMC Article
Stannah J, Soni N, Lam JKS, Giguère K, Mitchell KM, Kronfli N, Larmarange J, Moh R, Nouaman M, Kouamé GM, Boily MC, Maheu-Giroux M
Lancet HIV 2023 Aug;10(8):e528-e542. Epub 2023 Jul 12 doi: 10.1016/S2352-3018(23)00111-X. PMID: 37453439
Kabarambi A, Kansiime S, Kusemererwa S, Kitonsa J, Kaleebu P, Ruzagira E; PrEPVacc Study Group
Int J Environ Res Public Health 2022 May 24;19(11) doi: 10.3390/ijerph19116377. PMID: 35681962Free PMC Article
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
Lacombe C, Aucouturier P, Preud'homme JL
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Clinical prediction guides

Moradzadeh R, Navidi I, Zamanian M
J Int Assoc Provid AIDS Care 2023 Jan-Dec;22:23259582231189094. doi: 10.1177/23259582231189094. PMID: 37525568Free PMC Article
Neesgaard B, Greenberg L, Miró JM, Grabmeier-Pfistershammer K, Wandeler G, Smith C, De Wit S, Wit F, Pelchen-Matthews A, Mussini C, Castagna A, Pradier C, d'Arminio Monforte A, Vehreschild JJ, Sönnerborg A, Anne AV, Carr A, Bansi-Matharu L, Lundgren JD, Garges H, Rogatto F, Zangerle R, Günthard HF, Rasmussen LD, Necsoi C, van der Valk M, Menozzi M, Muccini C, Peters L, Mocroft A, Ryom L
Lancet HIV 2022 Jul;9(7):e474-e485. Epub 2022 Jun 7 doi: 10.1016/S2352-3018(22)00094-7. PMID: 35688166
Kabarambi A, Kansiime S, Kusemererwa S, Kitonsa J, Kaleebu P, Ruzagira E; PrEPVacc Study Group
Int J Environ Res Public Health 2022 May 24;19(11) doi: 10.3390/ijerph19116377. PMID: 35681962Free PMC Article
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
Lacombe C, Aucouturier P, Preud'homme JL
Clin Immunol Immunopathol 1997 Aug;84(2):194-201. doi: 10.1006/clin.1997.4386. PMID: 9245552

Recent systematic reviews

Kay AW, Ness T, Verkuijl SE, Viney K, Brands A, Masini T, González Fernández L, Eisenhut M, Detjen AK, Mandalakas AM, Steingart KR, Takwoingi Y
Cochrane Database Syst Rev 2022 Sep 6;9(9):CD013359. doi: 10.1002/14651858.CD013359.pub3. PMID: 36065889Free PMC Article
Zhou T, Guan H, Wang L, Zhang Y, Rui M, Ma A
Front Public Health 2021;9:675523. Epub 2021 Jun 29 doi: 10.3389/fpubh.2021.675523. PMID: 34268287Free 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
Mason-Jones AJ, Sinclair D, Mathews C, Kagee A, Hillman A, Lombard C
Cochrane Database Syst Rev 2016 Nov 8;11(11):CD006417. doi: 10.1002/14651858.CD006417.pub3. PMID: 27824221Free PMC Article
McFarland LV
World J Gastroenterol 2010 May 14;16(18):2202-22. doi: 10.3748/wjg.v16.i18.2202. PMID: 20458757Free PMC Article

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