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IMMUNODEFICIENCY 128(IMD128)

MedGen UID:
1054328
Concept ID:
CN378657
Disease or Syndrome
Synonym: IMD128
 
Gene (location): COPG1 (3q21.3)
 
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
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
Hermans PE, Goldstein NP, Wellman WE
Am J Med 1972 Jan;52(1):128-40. doi: 10.1016/0002-9343(72)90014-9. PMID: 4111896

Recent clinical studies

Etiology

Newman EN, Israelsen RB, Williamson K, Hsieh EWY
Ann Allergy Asthma Immunol 2022 Feb;128(2):225-226. Epub 2021 Oct 30 doi: 10.1016/j.anai.2021.10.028. PMID: 34728346
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
Katlama C
J Med Virol 1993;Suppl 1:128-33. doi: 10.1002/jmv.1890410525. PMID: 8245878
Blanshard C, Jackson AM, Shanson DC, Francis N, Gazzard BG
Q J Med 1992 Nov-Dec;85(307-308):813-23. PMID: 1362461

Diagnosis

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
Katlama C
J Med Virol 1993;Suppl 1:128-33. doi: 10.1002/jmv.1890410525. PMID: 8245878
Blanshard C, Jackson AM, Shanson DC, Francis N, Gazzard BG
Q J Med 1992 Nov-Dec;85(307-308):813-23. PMID: 1362461
Lombardo JV, Terlinsky A, Chester AC, Preuss HG
Am Fam Physician 1980 Jan;21(1):128-35. PMID: 7350733

Therapy

Teixeira LAA, Santos B, Correia MG, Valiquette C, Bastos ML, Menzies D, Trajman A
Clin Infect Dis 2024 May 15;78(5):1321-1327. doi: 10.1093/cid/ciae101. PMID: 38407417
Newman EN, Israelsen RB, Williamson K, Hsieh EWY
Ann Allergy Asthma Immunol 2022 Feb;128(2):225-226. Epub 2021 Oct 30 doi: 10.1016/j.anai.2021.10.028. PMID: 34728346
Brooks JP, Radojicic C, Riedl MA, Newcomer SD, Banerji A, Hsu FI
J Allergy Clin Immunol Pract 2020 Jun;8(6):1875-1880.e3. Epub 2020 Apr 3 doi: 10.1016/j.jaip.2020.03.009. PMID: 32251736
Khan U, Hadid T
Blood 2016 Dec 8;128(23):2742. doi: 10.1182/blood-2016-07-730119. PMID: 27932329
Wyatt HV
J Infect Dis 1973 Dec;128(6):802-6. doi: 10.1093/infdis/128.6.802. PMID: 4765357

Prognosis

Teixeira LAA, Santos B, Correia MG, Valiquette C, Bastos ML, Menzies D, Trajman A
Clin Infect Dis 2024 May 15;78(5):1321-1327. doi: 10.1093/cid/ciae101. PMID: 38407417
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
Enarson DA, Chretien J
Curr Opin Pulm Med 1999 May;5(3):128-35. doi: 10.1097/00063198-199905000-00002. PMID: 10228736
Blanshard C, Jackson AM, Shanson DC, Francis N, Gazzard BG
Q J Med 1992 Nov-Dec;85(307-308):813-23. PMID: 1362461
Lombardo JV, Terlinsky A, Chester AC, Preuss HG
Am Fam Physician 1980 Jan;21(1):128-35. PMID: 7350733

Clinical prediction guides

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
Yu I, Greenberg RN, Crawford TN, Thornton AC, Myint T
J Int Assoc Provid AIDS Care 2017 Sep/Oct;16(5):512-515. Epub 2017 Apr 10 doi: 10.1177/2325957417702486. PMID: 28393661
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
Serghides L, Finney CA, Ayi K, Loutfy M, Kain KC
J Acquir Immune Defic Syndr 2015 Feb 1;68(2):128-32. doi: 10.1097/QAI.0000000000000427. PMID: 25415293
Bassett MT
Ann N Y Acad Sci 2000 Nov;918:128-35. doi: 10.1111/j.1749-6632.2000.tb05481.x. PMID: 11131696

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
Endalamaw A, Geremew D, Alemu SM, Ambachew S, Tesera H, Habtewold TD
Afr J AIDS Res 2021 Dec;20(4):259-269. doi: 10.2989/16085906.2021.1980066. PMID: 34905450
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

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