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IMMUNODEFICIENCY 128(IMD128)

MedGen UID:
1054328
Concept ID:
CN378657
Disease or Syndrome
Synonym: IMD128
 
OMIM®: 620983

Definition

Immunodeficiency-128 (IMD128) is an autosomal recessive primary immunologic disorder characterized by the onset of recurrent bacterial and viral infections in the first year of life. Affected individuals have respiratory infections, usually leading to bronchiectasis, failure to thrive, and variable chronic persistent viremia with CMV, EBV, and parvovirus B12. Laboratory studies show CD4+ T-cell lymphopenia, decreased or normal CD8+ T cells and B cell levels, decreased NK cells, poor T-cell proliferative responses, and impaired antibody production (Bainter et al., 2021). [from OMIM]

Professional guidelines

PubMed

DInur-Schejter Y, Stepensky P
Ann Allergy Asthma Immunol 2022 Jan;128(1):12-18. Epub 2021 Oct 8 doi: 10.1016/j.anai.2021.10.001. PMID: 34628007
Seyler L, Lacor P, Allard SD
Pol Arch Intern Med 2018 Oct 31;128(10):609-616. doi: 10.20452/pamw.4357. PMID: 30387448
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators
J Allergy Clin Immunol 2011 Aug;128(2):382-9.e1. Epub 2011 Jun 12 doi: 10.1016/j.jaci.2011.03.052. PMID: 21665257

Recent clinical studies

Etiology

Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
da Silva Neto MM, Brites C, Borges ÁH
APMIS 2020 Feb;128(2):121-128. Epub 2020 Jan 28 doi: 10.1111/apm.13020. PMID: 31990100
Seyler L, Lacor P, Allard SD
Pol Arch Intern Med 2018 Oct 31;128(10):609-616. doi: 10.20452/pamw.4357. PMID: 30387448
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
Gilmore NJ, Beaulieu R, Steben M, Laverdière M
Can Med Assoc J 1983 Jun 1;128(11):1281-4. PMID: 6342737Free PMC Article

Diagnosis

Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
DInur-Schejter Y, Stepensky P
Ann Allergy Asthma Immunol 2022 Jan;128(1):12-18. Epub 2021 Oct 8 doi: 10.1016/j.anai.2021.10.001. PMID: 34628007
León-Ballesteros GP, Pérez-Soto R, Zúñiga-Posselt K, Velázquez-Fernández D
Gac Med Mex 2018;154(4):473-479. doi: 10.24875/GMM.17003839. PMID: 30250334
Montefiori DC, Roederer M, Morris L, Seaman MS
Curr Opin HIV AIDS 2018 Mar;13(2):128-136. doi: 10.1097/COH.0000000000000442. PMID: 29266013Free 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

Therapy

Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
Majerová T, Konvalinka J
Mol Aspects Med 2022 Dec;88:101159. Epub 2022 Nov 29 doi: 10.1016/j.mam.2022.101159. PMID: 36459838Free PMC Article
Melkova Z, Shankaran P, Madlenakova M, Bodor J
Folia Microbiol (Praha) 2017 Jan;62(1):73-87. Epub 2016 Oct 5 doi: 10.1007/s12223-016-0474-7. PMID: 27709447
Khan U, Hadid T
Blood 2016 Dec 8;128(23):2742. doi: 10.1182/blood-2016-07-730119. PMID: 27932329
Gulick RM
Top Antivir Med 2015 Oct-Nov;23(4):128-31. PMID: 26713502Free PMC Article

Prognosis

Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
Alshahrani SH, Alameri AA, Kahar F, Alexis Ramírez-Coronel A, Fadhel Obaid R, Alsaikhan F, Zabibah RS, Qasim QA, Altalbawy FMA, Fakri Mustafa Y, Mirzaei R, Karampoor S
Microb Pathog 2023 Mar;176:106020. Epub 2023 Feb 4 doi: 10.1016/j.micpath.2023.106020. PMID: 36746316
DInur-Schejter Y, Stepensky P
Ann Allergy Asthma Immunol 2022 Jan;128(1):12-18. Epub 2021 Oct 8 doi: 10.1016/j.anai.2021.10.001. PMID: 34628007
León-Ballesteros GP, Pérez-Soto R, Zúñiga-Posselt K, Velázquez-Fernández D
Gac Med Mex 2018;154(4):473-479. doi: 10.24875/GMM.17003839. PMID: 30250334
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators
J Allergy Clin Immunol 2011 Aug;128(2):382-9.e1. Epub 2011 Jun 12 doi: 10.1016/j.jaci.2011.03.052. PMID: 21665257

Clinical prediction guides

Zurowska A, Drozynska-Duklas M, Topaloglu R, Bouts A, Boyer O, Shenoy M, Vivarelli M; ESPN Glomerulonephritis Working Group
Pediatr Nephrol 2023 Sep;38(9):3035-3042. Epub 2023 Apr 4 doi: 10.1007/s00467-023-05913-1. PMID: 37014530Free PMC Article
Cao Y, Kan H, Wang X, Zhi Y
Ann Allergy Asthma Immunol 2022 Apr;128(4):451-458.e6. Epub 2022 Jan 31 doi: 10.1016/j.anai.2022.01.021. PMID: 35093554
da Silva Neto MM, Brites C, Borges ÁH
APMIS 2020 Feb;128(2):121-128. Epub 2020 Jan 28 doi: 10.1111/apm.13020. PMID: 31990100
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
Cachat J, Deffert C, Hugues S, Krause KH
Clin Sci (Lond) 2015 May 1;128(10):635-48. doi: 10.1042/CS20140635. PMID: 25760962

Recent systematic reviews

Ekeng BE, Davies AA, Osaigbovo II, Emanghe UE, Udoh UA, Alex-Wele MA, Adereti OC, Oladele RO
Niger Postgrad Med J 2023 Jan-Mar;30(1):12-17. doi: 10.4103/npmj.npmj_311_22. PMID: 36814158
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
Asghari A, Sadeghipour Z, Hassanipour S, Abbasali Z, Ebrahimzadeh-Parikhani H, Hashemzaei M, Alimardani V, Hatam G
Environ Sci Pollut Res Int 2021 Nov;28(43):60308-60328. Epub 2021 Sep 15 doi: 10.1007/s11356-021-16187-1. PMID: 34528202
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
Waddell LA, Rajić A, Stärk KD, McEWEN SA
Epidemiol Infect 2015 Nov;143(15):3135-57. Epub 2015 May 20 doi: 10.1017/S095026881500076X. PMID: 25989710Free PMC Article

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