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Immunodeficiency 117(IMD117)

MedGen UID:
1051378
Concept ID:
CN375951
Disease or Syndrome
Synonyms: IMD117; IMMUNODEFICIENCY 117, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
 
Gene (location): IRF1 (5q31.1)
 
Monarch Initiative: MONDO:0958011
OMIM®: 620668

Definition

Immunodeficiency-117 (IMD117) is an autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination and show increased susceptibility to other mycobacterial infections, such as M. avium. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon (IFNG; 147570) (et al., 2023). [from OMIM]

Professional guidelines

PubMed

Yang L, Booth C, Speckmann C, Seidel MG, Worth AJJ, Kindle G, Lankester AC, Grimbacher B; ESID Clinical and Registry Working Parties, Gennery AR, Seppanen MRJ, Morris EC, Burns SO
J Allergy Clin Immunol 2022 Aug;150(2):456-466. Epub 2021 Dec 15 doi: 10.1016/j.jaci.2021.10.037. PMID: 34920033
Del Romero J, García-Pérez JN, Espasa-Soley M
Enferm Infecc Microbiol Clin (Engl Ed) 2019 Feb;37(2):117-126. Epub 2018 Dec 24 doi: 10.1016/j.eimc.2018.11.008. PMID: 30591390
Chiarella SE, Grammer LC
Expert Rev Clin Immunol 2017 Feb;13(2):117-123. Epub 2016 Aug 18 doi: 10.1080/1744666X.2016.1216790. PMID: 27500811Free PMC Article

Recent clinical studies

Etiology

Mitjà O, Alemany A, Marks M, Lezama Mora JI, Rodríguez-Aldama JC, Torres Silva MS, Corral Herrera EA, Crabtree-Ramirez B, Blanco JL, Girometti N, Mazzotta V, Hazra A, Silva M, Montenegro-Idrogo JJ, Gebo K, Ghosn J, Peña Vázquez MF, Matos Prado E, Unigwe U, Villar-García J, Wald-Dickler N, Zucker J, Paredes R, Calmy A, Waters L, Galvan-Casas C, Walmsley S, Orkin CM; SHARE-NET writing group
Lancet 2023 Mar 18;401(10380):939-949. Epub 2023 Feb 21 doi: 10.1016/S0140-6736(23)00273-8. PMID: 36828001
Szczawinska-Poplonyk A, Begier K, Dorota A, Dabrowska M, Galecka D, Wawrzeniak K, Wroblewski K
Allergol Immunopathol (Madr) 2021;49(4):117-136. Epub 2021 Jul 1 doi: 10.15586/aei.v49i4.200. PMID: 34224226
Marra CM
Handb Clin Neurol 2018;152:117-122. doi: 10.1016/B978-0-444-63849-6.00009-8. PMID: 29604970
Notarangelo LD, Lanzi G, Peron S, Durandy A
J Allergy Clin Immunol 2006 Apr;117(4):855-64. doi: 10.1016/j.jaci.2006.01.043. PMID: 16630945
Moodley J, Wennberg JL
Curr Opin Obstet Gynecol 2005 Apr;17(2):117-21. doi: 10.1097/01.gco.0000162178.38231.1d. PMID: 15758601

Diagnosis

Mitjà O, Alemany A, Marks M, Lezama Mora JI, Rodríguez-Aldama JC, Torres Silva MS, Corral Herrera EA, Crabtree-Ramirez B, Blanco JL, Girometti N, Mazzotta V, Hazra A, Silva M, Montenegro-Idrogo JJ, Gebo K, Ghosn J, Peña Vázquez MF, Matos Prado E, Unigwe U, Villar-García J, Wald-Dickler N, Zucker J, Paredes R, Calmy A, Waters L, Galvan-Casas C, Walmsley S, Orkin CM; SHARE-NET writing group
Lancet 2023 Mar 18;401(10380):939-949. Epub 2023 Feb 21 doi: 10.1016/S0140-6736(23)00273-8. PMID: 36828001
Dian S, Ganiem AR, Ekawardhani S
Pathog Glob Health 2023 Feb;117(1):14-23. Epub 2022 Jun 11 doi: 10.1080/20477724.2022.2083977. PMID: 35694771Free PMC Article
Tarín-Vicente EJ, Alemany A, Agud-Dios M, Ubals M, Suñer C, Antón A, Arando M, Arroyo-Andrés J, Calderón-Lozano L, Casañ C, Cabrera JM, Coll P, Descalzo V, Folgueira MD, García-Pérez JN, Gil-Cruz E, González-Rodríguez B, Gutiérrez-Collar C, Hernández-Rodríguez Á, López-Roa P, de Los Ángeles Meléndez M, Montero-Menárguez J, Muñoz-Gallego I, Palencia-Pérez SI, Paredes R, Pérez-Rivilla A, Piñana M, Prat N, Ramirez A, Rivero Á, Rubio-Muñiz CA, Vall M, Acosta-Velásquez KS, Wang A, Galván-Casas C, Marks M, Ortiz-Romero PL, Mitjà O
Lancet 2022 Aug 27;400(10353):661-669. Epub 2022 Aug 8 doi: 10.1016/S0140-6736(22)01436-2. PMID: 35952705Free PMC Article
Dutta Majumder P, Chen EJ, Shah J, Ching Wen Ho D, Biswas J, See Yin L, Gupta V, Pavesio C, Agrawal R
Ocul Immunol Inflamm 2019;27(1):117-125. Epub 2017 Oct 11 doi: 10.1080/09273948.2017.1371765. PMID: 29020491
Rahimian P, He JJ
Prog Neurobiol 2017 Oct;157:117-132. Epub 2016 Apr 12 doi: 10.1016/j.pneurobio.2016.04.003. PMID: 27084354Free PMC Article

Therapy

Dutta Majumder P, Chen EJ, Shah J, Ching Wen Ho D, Biswas J, See Yin L, Gupta V, Pavesio C, Agrawal R
Ocul Immunol Inflamm 2019;27(1):117-125. Epub 2017 Oct 11 doi: 10.1080/09273948.2017.1371765. PMID: 29020491
Marra CM
Handb Clin Neurol 2018;152:117-122. doi: 10.1016/B978-0-444-63849-6.00009-8. PMID: 29604970
Andrews B, Semler MW, Muchemwa L, Kelly P, Lakhi S, Heimburger DC, Mabula C, Bwalya M, Bernard GR
JAMA 2017 Oct 3;318(13):1233-1240. doi: 10.1001/jama.2017.10913. PMID: 28973227Free PMC Article
Chiarella SE, Grammer LC
Expert Rev Clin Immunol 2017 Feb;13(2):117-123. Epub 2016 Aug 18 doi: 10.1080/1744666X.2016.1216790. PMID: 27500811Free PMC Article
Babayev R, Terner S, Chandra S, Radhakrishnan J, Mohan S
Am J Kidney Dis 2013 Dec;62(6):1188-92. Epub 2013 Jul 26 doi: 10.1053/j.ajkd.2013.06.007. PMID: 23891358

Prognosis

Yang L, Booth C, Speckmann C, Seidel MG, Worth AJJ, Kindle G, Lankester AC, Grimbacher B; ESID Clinical and Registry Working Parties, Gennery AR, Seppanen MRJ, Morris EC, Burns SO
J Allergy Clin Immunol 2022 Aug;150(2):456-466. Epub 2021 Dec 15 doi: 10.1016/j.jaci.2021.10.037. PMID: 34920033
Dutta Majumder P, Chen EJ, Shah J, Ching Wen Ho D, Biswas J, See Yin L, Gupta V, Pavesio C, Agrawal R
Ocul Immunol Inflamm 2019;27(1):117-125. Epub 2017 Oct 11 doi: 10.1080/09273948.2017.1371765. PMID: 29020491
Andrews B, Semler MW, Muchemwa L, Kelly P, Lakhi S, Heimburger DC, Mabula C, Bwalya M, Bernard GR
JAMA 2017 Oct 3;318(13):1233-1240. doi: 10.1001/jama.2017.10913. PMID: 28973227Free PMC Article
Blockmans D, Vermylen J
Acta Clin Belg 1992;47(2):117-23. doi: 10.1080/17843286.1992.11718217. PMID: 1321536
Leichman LP, Cummings BJ
Curr Probl Cancer 1990 May-Jun;14(3):117-59. doi: 10.1016/0147-0272(90)90014-h. PMID: 2202554

Clinical prediction guides

Gandhi M, Hickey M, Imbert E, Grochowski J, Mayorga-Munoz F, Szumowski JD, Oskarsson J, Shiels M, Sauceda J, Salazar J, Dilworth S, Nguyen JQ, Glidden DV, Havlir DV, Christopoulos KA
Ann Intern Med 2023 Jul;176(7):969-974. Epub 2023 Jul 4 doi: 10.7326/M23-0788. PMID: 37399555Free PMC Article
Tarín-Vicente EJ, Alemany A, Agud-Dios M, Ubals M, Suñer C, Antón A, Arando M, Arroyo-Andrés J, Calderón-Lozano L, Casañ C, Cabrera JM, Coll P, Descalzo V, Folgueira MD, García-Pérez JN, Gil-Cruz E, González-Rodríguez B, Gutiérrez-Collar C, Hernández-Rodríguez Á, López-Roa P, de Los Ángeles Meléndez M, Montero-Menárguez J, Muñoz-Gallego I, Palencia-Pérez SI, Paredes R, Pérez-Rivilla A, Piñana M, Prat N, Ramirez A, Rivero Á, Rubio-Muñiz CA, Vall M, Acosta-Velásquez KS, Wang A, Galván-Casas C, Marks M, Ortiz-Romero PL, Mitjà O
Lancet 2022 Aug 27;400(10353):661-669. Epub 2022 Aug 8 doi: 10.1016/S0140-6736(22)01436-2. PMID: 35952705Free PMC Article
Schmidt A, Groh AM, Frick JS, Vehreschild MJGT, Ludwig KU
Dtsch Arztebl Int 2022 Feb 25;119(8):117-123. doi: 10.3238/arztebl.m2022.0105. PMID: 35101171Free PMC Article
Shen Q, Sheng L, Zhang J, Ye J, Zhou J
Infection 2022 Feb;50(1):169-178. Epub 2021 Aug 5 doi: 10.1007/s15010-021-01679-6. PMID: 34351597Free PMC Article
Razonable RR
Immunotherapy 2010 Jan;2(1):117-30. doi: 10.2217/imt.09.82. PMID: 20635892

Recent systematic reviews

Maccora I, Maniscalco V, Campani S, Carrera S, Abbati G, Marrani E, Mastrolia MV, Simonini G
Orphanet J Rare Dis 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6. PMID: 37179309Free PMC Article
Bagherzadeh-Fard M, Amin Yazdanifar M, Sadeghalvad M, Rezaei N
Int Immunopharmacol 2023 Apr;117:109366. Epub 2023 Mar 9 doi: 10.1016/j.intimp.2022.109366. PMID: 37012858
Laermans J, O D, Van den Bosch E, De Buck E, Compernolle V, Shinar E, Vandekerckhove P
Vox Sang 2022 Jun;117(6):769-779. Epub 2022 Feb 15 doi: 10.1111/vox.13255. PMID: 35167126Free PMC Article
Gutierrez J, Albuquerque ALA, Falzon L
PLoS One 2017;12(5):e0176686. Epub 2017 May 11 doi: 10.1371/journal.pone.0176686. PMID: 28493892Free PMC Article
Suthar AB, Ford N, Bachanas PJ, Wong VJ, Rajan JS, Saltzman AK, Ajose O, Fakoya AO, Granich RM, Negussie EK, Baggaley RC
PLoS Med 2013 Aug;10(8):e1001496. Epub 2013 Aug 13 doi: 10.1371/journal.pmed.1001496. PMID: 23966838Free PMC Article

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