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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.
See: Feature record | Search on this feature
Eosinophilia
MedGen UID:
41824
•Concept ID:
C0014457
•
Disease or Syndrome
Increased count of eosinophils in the blood.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.
Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, Gil-Herrera J, Talano JA, Crooks B, Formankova R, Jorch N, Bakhtiar S, Kühnle I, Streiter M, Nathrath M, Russo A, Dürken M, Lang P, Lindemans C, Henter JI, Lehmberg K, Ehl S
Blood 2024 Mar 7;143(10):872-881. doi: 10.1182/blood.2023022281. PMID: 37992218
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
HIV/AIDS prevention and treatment.
Wilson D
Lancet 2002 Jul 6;360(9326):88-9. doi: 10.1016/S0140-6736(02)09347-9. PMID: 12114068

Recent clinical studies

Etiology

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
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
Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
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
To whom is HIV pre-exposure prophylaxis proposed?
Ayerdi-Aguirrebengoa O, Vera-García M, Puerta-López T, Raposo-Utrilla M, Rodríguez-Martín C, Del Romero-Guerrero J
Enferm Infecc Microbiol Clin 2017 May;35(5):299-302. Epub 2016 Jul 18 doi: 10.1016/j.eimc.2016.06.006. PMID: 27445176
Altered gene expression and possible immunodeficiency in cases of sudden infant death syndrome.
Ferrante L, Rognum TO, Vege Å, Nygård S, Opdal SH
Pediatr Res 2016 Jul;80(1):77-84. Epub 2016 Mar 9 doi: 10.1038/pr.2016.45. PMID: 26959483
Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis.
Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K
Medicine (Baltimore) 1991 Mar;70(2):99-117. PMID: 2005780

Diagnosis

Tuberculosis Preventive Therapy among Persons Living with HIV, Uganda, 2016-2022.
Lukoye D, Gustavson G, Namuwenge PM, Muchuro S, Birabwa E, Dejene S, Ssempiira J, Kalamya JN, Baveewo S, Ferroussier-Davis O, Mills LA, Dirlikov E, Nelson LJ, Turyahabwe S
Emerg Infect Dis 2023 Mar;29(3):609-613. doi: 10.3201/eid2903.221353. PMID: 36823496Free PMC Article
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
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
COMMON VARIABLE IMMUNODEFICIENCY: PREDISPOSING OR PROTECTIVE FACTOR FOR SEVERE COMPLICATIONS OF COVID-19?
Ferenc T, Vilibić-Čavlek T
Acta Clin Croat 2022 Mar;61(1):107-114. doi: 10.20471/acc.2022.61.01.13. PMID: 36398083Free PMC Article
Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
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
HIV-Associated Lung Cancer.
Kiderlen TR, Siehl J, Hentrich M
Oncol Res Treat 2017;40(3):88-92. Epub 2017 Feb 20 doi: 10.1159/000458442. PMID: 28259887

Therapy

Capsid Inhibition with Lenacapavir in Multidrug-Resistant HIV-1 Infection.
Segal-Maurer S, DeJesus E, Stellbrink HJ, Castagna A, Richmond GJ, Sinclair GI, Siripassorn K, Ruane PJ, Berhe M, Wang H, Margot NA, Dvory-Sobol H, Hyland RH, Brainard DM, Rhee MS, Baeten JM, Molina JM; CAPELLA Study Investigators
N Engl J Med 2022 May 12;386(19):1793-1803. doi: 10.1056/NEJMoa2115542. PMID: 35544387
Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
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
HIV-Associated Lung Cancer.
Kiderlen TR, Siehl J, Hentrich M
Oncol Res Treat 2017;40(3):88-92. Epub 2017 Feb 20 doi: 10.1159/000458442. PMID: 28259887
Prevention of HIV-1 infection with early antiretroviral therapy.
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Mehendale S, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Wang L, Makhema J, Mills LA, de Bruyn G, Sanne I, Eron J, Gallant J, Havlir D, Swindells S, Ribaudo H, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano D, Essex M, Fleming TR; HPTN 052 Study Team
N Engl J Med 2011 Aug 11;365(6):493-505. Epub 2011 Jul 18 doi: 10.1056/NEJMoa1105243. PMID: 21767103Free PMC Article
Filgrastim (r-metHuG-CSF): the first 10 years.
Welte K, Gabrilove J, Bronchud MH, Platzer E, Morstyn G
Blood 1996 Sep 15;88(6):1907-29. PMID: 8822908

Prognosis

Epidemiology and long-term survival in HIV-infected patients with Pneumocystis jirovecii pneumonia in the HAART era: experience in a university hospital and review of the literature.
López-Sánchez C, Falcó V, Burgos J, Navarro J, Martín MT, Curran A, Miguel L, Ocaña I, Ribera E, Crespo M, Almirante B
Medicine (Baltimore) 2015 Mar;94(12):e681. doi: 10.1097/MD.0000000000000681. PMID: 25816039Free PMC Article
Audit of the management of the syphilis outbreak in Herefordshire 2011-2013.
Cox JH, Elliott E, Sivaprakasam V, Chima-Okereke C
Int J STD AIDS 2015 Apr;26(5):357-9. Epub 2014 Jun 9 doi: 10.1177/0956462414538771. PMID: 24912537
Renal tuberculosis in the modern era.
Daher Ede F, da Silva GB Jr, Barros EJ
Am J Trop Med Hyg 2013 Jan;88(1):54-64. doi: 10.4269/ajtmh.2013.12-0413. PMID: 23303798Free PMC Article
Estimating HIV incidence among female partners of bisexual men in China.
Chow EP, Wilson DP, Zhang L
Int J Infect Dis 2012 May;16(5):e312-20. Epub 2012 Mar 20 doi: 10.1016/j.ijid.2012.01.012. PMID: 22440544
Epidemiology of HIV infection in children in Europe.
Canosa CA
Acta Paediatr Suppl 1994 Aug;400:8-14. doi: 10.1111/j.1651-2227.1994.tb13325.x. PMID: 7833569

Clinical prediction guides

Estimation of Improvements in Mortality in Spectrum Among Adults With HIV Receiving Antiretroviral Therapy in High-Income Countries.
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
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
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
Sleep disturbance, psychiatric issues, and employment status of Iranian people living with HIV.
Najafi A, Mahboobi M, Sadeghniiat Haghighi K, Aghajani F, Nakhostin-Ansari A, Soltani S, Jafarpour A, Afsar Kazerooni P, Bazargani M, Ghodrati S, Akbarpour S
BMC Res Notes 2021 Aug 30;14(1):338. doi: 10.1186/s13104-021-05755-w. PMID: 34461988Free PMC Article
Myristic acid-modified thymopentin for enhanced plasma stability and immune-modulating activity.
Tan Y, Wang W, Wu C, Pan Z, Yao G, Fang L, Su W
Int Immunopharmacol 2017 Jun;47:88-94. Epub 2017 Mar 31 doi: 10.1016/j.intimp.2017.03.025. PMID: 28365509
Clinical validation of the NeuroScreen.
Ellis RJ, Evans SR, Clifford DB, Moo LR, McArthur JC, Collier AC, Benson C, Bosch R, Simpson D, Yiannoutsos CT, Yang Y, Robertson K; Neurological AIDS Research Consortium; AIDS Clinical Trials Group Study Teams A5001 and A362
J Neurovirol 2005 Dec;11(6):503-11. doi: 10.1080/13550280500384966. PMID: 16338744

Recent systematic reviews

Comparison of Different Anti-Demodex Strategies: A Systematic Review and Meta-Analysis.
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
Non-invasive diagnosis of Pneumocystis jirovecii pneumonia: a systematic review and meta-analysis.
Senécal J, Smyth E, Del Corpo O, Hsu JM, Amar-Zifkin A, Bergeron A, Cheng MP, Butler-Laporte G, McDonald EG, Lee TC
Clin Microbiol Infect 2022 Jan;28(1):23-30. Epub 2021 Aug 28 doi: 10.1016/j.cmi.2021.08.017. PMID: 34464734
Cryptococcal Antigen in Serum and Cerebrospinal Fluid for Detecting Cryptococcal Meningitis in Adults Living With Human Immunodeficiency Virus: Systematic Review and Meta-Analysis of Diagnostic Test Accuracy Studies.
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
Global prevalence of injecting drug use and sociodemographic characteristics and prevalence of HIV, HBV, and HCV in people who inject drugs: a multistage systematic review.
Degenhardt L, Peacock A, Colledge S, Leung J, Grebely J, Vickerman P, Stone J, Cunningham EB, Trickey A, Dumchev K, Lynskey M, Griffiths P, Mattick RP, Hickman M, Larney S
Lancet Glob Health 2017 Dec;5(12):e1192-e1207. Epub 2017 Oct 23 doi: 10.1016/S2214-109X(17)30375-3. PMID: 29074409Free PMC Article
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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