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IMMUNODEFICIENCY 127(IMD127)

MedGen UID:
1054122
Concept ID:
CN378651
Disease or Syndrome
Synonyms: IMD127; IMMUNODEFICIENCY 127, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
 
OMIM®: 620977

Definition

Immunodeficiency-127 (IMD127) is an autosomal recessive immunologic disorder characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis (TB). Affected individuals do not have adverse effects to BCG vaccination, but tend to develop pulmonary TB in the late teens. Relapse may occur, but most episodes can be successfully treated. Aside from 1 patient who developed a severe infection with Listeria monocytogenes during pregnancy, patients do not have significant other infections, adverse response to vaccination, or immunologic abnormalities (Arias et al., 2024). [from OMIM]

Professional guidelines

PubMed

Sadeghi M, Keshavarz-Fathi M, Baracos V, Arends J, Mahmoudi M, Rezaei N
Crit Rev Oncol Hematol 2018 Jul;127:91-104. Epub 2018 May 31 doi: 10.1016/j.critrevonc.2018.05.006. PMID: 29891116
Obstet Gynecol 2016 Jan;127(1):e39-e51. doi: 10.1097/AOG.0000000000001266. PMID: 26695586
Hickey AJ, Durham PG, Dharmadhikari A, Nardell EA
J Control Release 2016 Oct 28;240:127-134. Epub 2015 Nov 18 doi: 10.1016/j.jconrel.2015.11.018. PMID: 26596254

Recent clinical studies

Etiology

Ahmed SK, Mohamed MG, Dabou EA, Abuijlan I, Chandran D, El-Shall NA, Chopra H, Dhama K
F1000Res 2023;12:127. Epub 2023 Feb 2 doi: 10.12688/f1000research.130272.2. PMID: 37089133Free PMC Article
Lee TK, Gereige JD, Maglione PJ
Ann Allergy Asthma Immunol 2021 Jul;127(1):19-27. Epub 2021 Mar 11 doi: 10.1016/j.anai.2021.03.005. PMID: 33716149Free PMC Article
Jones DL, Carrico AW, Babayigit S, Rodriguez VJ, Aguila C, Kumar M
J Behav Med 2018 Dec;41(6):792-797. Epub 2018 May 17 doi: 10.1007/s10865-018-9935-6. PMID: 29777500Free PMC Article
Glesby MJ
Top Antivir Med 2017 Dec/Jan;24(4):127-131. PMID: 28208120Free PMC Article
Chinen J, Shearer WT
J Allergy Clin Immunol 2011 Feb;127(2):336-41. doi: 10.1016/j.jaci.2010.11.042. PMID: 21281863Free PMC Article

Diagnosis

Ahmed SK, Mohamed MG, Dabou EA, Abuijlan I, Chandran D, El-Shall NA, Chopra H, Dhama K
F1000Res 2023;12:127. Epub 2023 Feb 2 doi: 10.12688/f1000research.130272.2. PMID: 37089133Free PMC Article
Tuano KS, Seth N, Chinen J
Ann Allergy Asthma Immunol 2021 Dec;127(6):617-626. Epub 2021 Sep 3 doi: 10.1016/j.anai.2021.08.413. PMID: 34481993
Stelzle D, Tanaka LF, Lee KK, Ibrahim Khalil A, Baussano I, Shah ASV, McAllister DA, Gottlieb SL, Klug SJ, Winkler AS, Bray F, Baggaley R, Clifford GM, Broutet N, Dalal S
Lancet Glob Health 2021 Feb;9(2):e161-e169. Epub 2020 Nov 16 doi: 10.1016/S2214-109X(20)30459-9. PMID: 33212031Free 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
Parsa AA, Bhangoo A
Rev Endocr Metab Disord 2013 Jun;14(2):127-31. doi: 10.1007/s11154-013-9248-6. PMID: 23743889

Therapy

Goodall RL, Meredith SK, Nunn AJ, Bayissa A, Bhatnagar AK, Bronson G, Chiang CY, Conradie F, Gurumurthy M, Kirenga B, Kiria N, Meressa D, Moodliar R, Narendran G, Ngubane N, Rassool M, Sanders K, Solanki R, Squire SB, Torrea G, Tsogt B, Tudor E, Van Deun A, Rusen ID; STREAM study collaborators
Lancet 2022 Nov 26;400(10366):1858-1868. Epub 2022 Nov 8 doi: 10.1016/S0140-6736(22)02078-5. PMID: 36368336Free PMC Article
Jones DL, Carrico AW, Babayigit S, Rodriguez VJ, Aguila C, Kumar M
J Behav Med 2018 Dec;41(6):792-797. Epub 2018 May 17 doi: 10.1007/s10865-018-9935-6. PMID: 29777500Free PMC Article
Gallant J, Lazzarin A, Mills A, Orkin C, Podzamczer D, Tebas P, Girard PM, Brar I, Daar ES, Wohl D, Rockstroh J, Wei X, Custodio J, White K, Martin H, Cheng A, Quirk E
Lancet 2017 Nov 4;390(10107):2063-2072. Epub 2017 Aug 31 doi: 10.1016/S0140-6736(17)32299-7. PMID: 28867497
Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M
J Allergy Clin Immunol 2011 Jun;127(6):1356-9. doi: 10.1016/j.jaci.2011.04.030. PMID: 21624615
Moyle GJ
Curr HIV/AIDS Rep 2005 Aug;2(3):127-31. doi: 10.1007/s11904-005-0005-7. PMID: 16091259

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
Roddie C, Dias J, O'Reilly MA, Abbasian M, Cadinanos-Garai A, Vispute K, Bosshard-Carter L, Mitsikakou M, Mehra V, Roddy H, Hartley JA, Spanswick V, Lowe H, Popova B, Clifton-Hadley L, Wheeler G, Olejnik J, Bloor A, Irvine D, Wood L, Marzolini MAV, Domning S, Farzaneh F, Lowdell MW, Linch DC, Pule MA, Peggs KS
J Clin Oncol 2021 Oct 20;39(30):3352-3363. Epub 2021 Aug 31 doi: 10.1200/JCO.21.00917. PMID: 34464155Free PMC Article
Pulliam L, Sun B, Mustapic M, Chawla S, Kapogiannis D
J Neurovirol 2019 Oct;25(5):702-709. Epub 2019 Jan 4 doi: 10.1007/s13365-018-0695-4. PMID: 30610738Free PMC Article
Gallant J, Lazzarin A, Mills A, Orkin C, Podzamczer D, Tebas P, Girard PM, Brar I, Daar ES, Wohl D, Rockstroh J, Wei X, Custodio J, White K, Martin H, Cheng A, Quirk E
Lancet 2017 Nov 4;390(10107):2063-2072. Epub 2017 Aug 31 doi: 10.1016/S0140-6736(17)32299-7. PMID: 28867497
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group
Blood 2016 Jun 23;127(25):3154-64. Epub 2016 Apr 25 doi: 10.1182/blood-2015-11-679902. PMID: 27114460Free PMC Article

Clinical prediction guides

Roddie C, Dias J, O'Reilly MA, Abbasian M, Cadinanos-Garai A, Vispute K, Bosshard-Carter L, Mitsikakou M, Mehra V, Roddy H, Hartley JA, Spanswick V, Lowe H, Popova B, Clifton-Hadley L, Wheeler G, Olejnik J, Bloor A, Irvine D, Wood L, Marzolini MAV, Domning S, Farzaneh F, Lowdell MW, Linch DC, Pule MA, Peggs KS
J Clin Oncol 2021 Oct 20;39(30):3352-3363. Epub 2021 Aug 31 doi: 10.1200/JCO.21.00917. PMID: 34464155Free PMC Article
Chemych OM, Chemych MD, Olefir AA, Berest OB
Wiad Lek 2021;74(5):1189-1195. PMID: 34090288
Pulliam L, Sun B, Mustapic M, Chawla S, Kapogiannis D
J Neurovirol 2019 Oct;25(5):702-709. Epub 2019 Jan 4 doi: 10.1007/s13365-018-0695-4. PMID: 30610738Free 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
Fomsgaard A
Immunol Lett 1999 Jan;65(1-2):127-31. doi: 10.1016/s0165-2478(98)00135-7. PMID: 10065638

Recent systematic reviews

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: 37453439Free PMC Article
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
Schroth J, Weber V, Jones TF, Del Arroyo AG, Henson SM, Ackland GL
Br J Anaesth 2021 Jul;127(1):32-40. Epub 2021 Mar 29 doi: 10.1016/j.bja.2021.02.023. PMID: 33795133Free PMC Article
Stelzle D, Tanaka LF, Lee KK, Ibrahim Khalil A, Baussano I, Shah ASV, McAllister DA, Gottlieb SL, Klug SJ, Winkler AS, Bray F, Baggaley R, Clifford GM, Broutet N, Dalal S
Lancet Glob Health 2021 Feb;9(2):e161-e169. Epub 2020 Nov 16 doi: 10.1016/S2214-109X(20)30459-9. PMID: 33212031Free 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

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