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Immunodeficiency 88(IMD88)

MedGen UID:
1794236
Concept ID:
C5562026
Disease or Syndrome
Synonym: IMMUNODEFICIENCY 88, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
 
Gene (location): TBX21 (17q21.32)
 
Monarch Initiative: MONDO:0030483
OMIM®: 619630

Definition

Immunodeficiency-88 (IMD88) is an autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG; 147570). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines (summary by Yang et al., 2020 and Yang et al., 2021). [from OMIM]

Clinical features

From HPO
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
BCGosis
MedGen UID:
823215
Concept ID:
C3830467
Disease or Syndrome
Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
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Diagnosis

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J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
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Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
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Therapy

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N Engl J Med 2022 May 12;386(19):1793-1803. doi: 10.1056/NEJMoa2115542. PMID: 35544387
Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
Kiderlen TR, Siehl J, Hentrich M
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Prognosis

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Clinical prediction guides

Trickey A, Glaubius R, Pantazis N, Zangerle R, Wittkop L, Vehreschild J, Grabar S, Cavassini M, Teira R, d'Arminio Monforte A, Casabona J, van Sighem A, Jarrin I, Ingle SM, Sterne JAC, Imai-Eaton JW, Johnson LF
J Acquir Immune Defic Syndr 2024 Jan 1;95(1S):e89-e96. Epub 2024 Jan 4 doi: 10.1097/QAI.0000000000003326. PMID: 38180742Free PMC Article
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
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Recent systematic reviews

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
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Temfack E, Rim JJB, Spijker R, Loyse A, Chiller T, Pappas PG, Perfect J, Sorell TC, Harrison TS, Cohen JF, Lortholary O
Clin Infect Dis 2021 Apr 8;72(7):1268-1278. doi: 10.1093/cid/ciaa1243. PMID: 32829406Free PMC Article
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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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