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Mendelian susceptibility to mycobacterial disease

MedGen UID:
1781109
Concept ID:
C5447326
Disease or Syndrome
Synonyms: Mendelian Susceptibility to Mycobacterial Diseases; Mendelian susceptibility to mycobacterial infection; MSMD - mendelian susceptibility to mycobacterial disease
SNOMED CT: MSMD - mendelian susceptibility to mycobacterial disease (1172895006); Mendelian susceptibility to mycobacterial disease (1172895006); Mendelian susceptibility to mycobacterial infection (1172895006)

Definition

A rare immunodeficiency syndrome characterised by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localised. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMendelian susceptibility to mycobacterial disease

Professional guidelines

PubMed

Soyak Aytekin E, Keskin A, Tan C, Yalçın E, Dogru D, Ozcelik U, Kiper N, Tezcan I, Cagdas D
Scand J Immunol 2021 Oct;94(4):e13084. Epub 2021 Jul 28 doi: 10.1111/sji.13084. PMID: 34780073
Ying W, Liu D, Dong X, Wang W, Hui X, Hou J, Yao H, Zhou Q, Sun B, Sun J, Wang X
J Clin Immunol 2019 Aug;39(6):600-610. Epub 2019 Jul 31 doi: 10.1007/s10875-019-00672-x. PMID: 31367980
Takada H
Pediatr Int 2013 Dec;55(6):671-4. doi: 10.1111/ped.12224. PMID: 24112462

Recent clinical studies

Etiology

Scholtz D, Jooste T, Möller M, van Coller A, Kinnear C, Glanzmann B
Int J Mol Sci 2023 Jul 28;24(15) doi: 10.3390/ijms241512119. PMID: 37569495Free PMC Article
Peñafiel Vicuña AK, Yamazaki Nakashimada M, León Lara X, Mendieta Flores E, Nuñez Núñez ME, Lona-Reyes JC, Hernández Nieto L, Ramírez Vázquez MG, Barroso Santos J, López Iñiguez Á, González Y, Torres M, Lezana Fernández JL, Román Montes CM, Medina-Torres EA, González Serrano E, Bustamante Ogando JC, Lugo Reyes S, Zavaleta Martínez O, Staines Boone AT, Venegas Montoya E, Aguilar Gómez NE, Soudeé C, Jouanguy E, Puel A, Boisson-Dupuis S, Pedraza Sánchez S, Casanova JL, Espinosa Rosales F, Espinosa Padilla S, Bustamante J, Blancas Galicia L
J Clin Immunol 2023 Jan;43(1):123-135. Epub 2022 Aug 31 doi: 10.1007/s10875-022-01357-8. PMID: 36044171Free PMC Article
Noma K, Mizoguchi Y, Tsumura M, Okada S
Clin Microbiol Infect 2022 Nov;28(11):1429-1434. Epub 2022 Mar 11 doi: 10.1016/j.cmi.2022.03.004. PMID: 35283318
Cornelissen HM, Glanzmann B, Van Coller A, Engelbrecht C, Abraham DR, Reddy K, Möller M, Kinnear C, Glashoff RH, Esser M
S Afr Med J 2021 Oct 5;111(10):998-1005. doi: 10.7196/SAMJ.2021.v111i10.15341. PMID: 34949297
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198

Diagnosis

Peñafiel Vicuña AK, Yamazaki Nakashimada M, León Lara X, Mendieta Flores E, Nuñez Núñez ME, Lona-Reyes JC, Hernández Nieto L, Ramírez Vázquez MG, Barroso Santos J, López Iñiguez Á, González Y, Torres M, Lezana Fernández JL, Román Montes CM, Medina-Torres EA, González Serrano E, Bustamante Ogando JC, Lugo Reyes S, Zavaleta Martínez O, Staines Boone AT, Venegas Montoya E, Aguilar Gómez NE, Soudeé C, Jouanguy E, Puel A, Boisson-Dupuis S, Pedraza Sánchez S, Casanova JL, Espinosa Rosales F, Espinosa Padilla S, Bustamante J, Blancas Galicia L
J Clin Immunol 2023 Jan;43(1):123-135. Epub 2022 Aug 31 doi: 10.1007/s10875-022-01357-8. PMID: 36044171Free PMC Article
Mirzalieva O, Juncker M, Schwartzenburg J, Desai S
Cells 2022 Feb 4;11(3) doi: 10.3390/cells11030538. PMID: 35159348Free PMC Article
Cornelissen HM, Glanzmann B, Van Coller A, Engelbrecht C, Abraham DR, Reddy K, Möller M, Kinnear C, Glashoff RH, Esser M
S Afr Med J 2021 Oct 5;111(10):998-1005. doi: 10.7196/SAMJ.2021.v111i10.15341. PMID: 34949297
Reed B, Dolen WK
Curr Allergy Asthma Rep 2018 Jun 23;18(8):44. doi: 10.1007/s11882-018-0797-3. PMID: 29936646
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T
Allergol Int 2018 Jan;67(1):43-54. Epub 2017 Jul 3 doi: 10.1016/j.alit.2017.06.003. PMID: 28684198

Therapy

Azarsiz E, Karaca N, Karaca E, Aksu G, Genel F, Gulez N, Ozen S, Kutukculer N
Asian Pac J Allergy Immunol 2023 Dec;41(4):372-378. doi: 10.12932/AP-271219-0726. PMID: 33638623
Mahdaviani SA, Fallahi M, Jamee M, Marjani M, Tabarsi P, Moniri A, Farnia P, Daneshmandi Z, Parvaneh N, Casanova JL, Bustamante J, Mansouri D, Velayati AA
Ann Clin Microbiol Antimicrob 2022 Mar 1;21(1):8. doi: 10.1186/s12941-022-00500-y. PMID: 35232430Free PMC Article
Patel S, Uppuluri R, Vellaichamy Swaminathan V, Ravichandran N, Melarcode Ramanan K, Raj R
Pediatr Blood Cancer 2020 May;67(5):e28187. Epub 2020 Jan 21 doi: 10.1002/pbc.28187. PMID: 31965686
López-Varela E, García-Basteiro AL, Santiago B, Wagner D, van Ingen J, Kampmann B
Lancet Respir Med 2015 Mar;3(3):244-56. Epub 2015 Mar 9 doi: 10.1016/S2213-2600(15)00062-4. PMID: 25773213
Haverkamp MH, van de Vosse E, van Dissel JT
J Infect 2014 Jan;68 Suppl 1:S134-50. Epub 2013 Oct 8 doi: 10.1016/j.jinf.2013.09.024. PMID: 24119826

Prognosis

Ye F, Zhang W, Dong J, Peng M, Fan C, Deng W, Zhang H, Yang L
Front Cell Infect Microbiol 2022;12:1002140. Epub 2022 Oct 21 doi: 10.3389/fcimb.2022.1002140. PMID: 36339330Free PMC Article
Mirzalieva O, Juncker M, Schwartzenburg J, Desai S
Cells 2022 Feb 4;11(3) doi: 10.3390/cells11030538. PMID: 35159348Free PMC Article
Ford TJ, Silcock RA, Holland SM
J Paediatr Child Health 2021 Jan;57(1):15-18. Epub 2021 Jan 6 doi: 10.1111/jpc.15257. PMID: 33404128
Mahdaviani SA, Mansouri D, Jamee M, Zaki-Dizaji M, Aghdam KR, Mortaz E, Khorasanizadeh M, Eskian M, Movahedi M, Ghaffaripour H, Baghaie N, Hassanzad M, Chavoshzadeh Z, Mansouri M, Mesdaghi M, Ghaini M, Noori F, Eskandarzadeh S, Kahkooi S, Poorabdolah M, Tabarsi P, Moniri A, Farnia P, Karimi A, Boisson-Dupuis S, Rezaei N, Marjani M, Casanova JL, Bustamante J, Velayati AA
J Clin Immunol 2020 Aug;40(6):872-882. Epub 2020 Jun 30 doi: 10.1007/s10875-020-00813-7. PMID: 32602053
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J
Crit Rev Clin Lab Sci 2018 May;55(3):184-204. Epub 2018 Mar 4 doi: 10.1080/10408363.2018.1444580. PMID: 29502462Free PMC Article

Clinical prediction guides

Shah KV, Peraza LR, Wiedermann JP
Curr Opin Otolaryngol Head Neck Surg 2023 Dec 1;31(6):388-396. Epub 2023 Sep 12 doi: 10.1097/MOO.0000000000000927. PMID: 37712822
Ye F, Zhang W, Dong J, Peng M, Fan C, Deng W, Zhang H, Yang L
Front Cell Infect Microbiol 2022;12:1002140. Epub 2022 Oct 21 doi: 10.3389/fcimb.2022.1002140. PMID: 36339330Free PMC Article
Staels F, Lorenzetti F, De Keukeleere K, Willemsen M, Gerbaux M, Neumann J, Tousseyn T, Pasciuto E, De Munter P, Bossuyt X, Gijsbers R, Liston A, Humblet-Baron S, Schrijvers R
J Clin Immunol 2022 Nov;42(8):1638-1652. Epub 2022 Jul 13 doi: 10.1007/s10875-022-01320-7. PMID: 35829840Free PMC Article
Al Waili B, Al Mufarajii N, Al Hashmi S, Al Ajmi A, Al Sukaiti N
Ann Saudi Med 2021 Jan-Feb;41(1):24-30. Epub 2021 Feb 4 doi: 10.5144/0256-4947.2021.24. PMID: 33550906Free PMC Article
Oliveira JB, Notarangelo LD, Fleisher TA
Curr Opin Allergy Clin Immunol 2008 Dec;8(6):499-509. doi: 10.1097/ACI.0b013e328312c790. PMID: 18978463

Recent systematic reviews

Xia L, Liu XH, Yuan Y, Lowrie DB, Fan XY, Li T, Hu ZD, Lu SH
Front Immunol 2022;13:926781. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.926781. PMID: 36569938Free PMC Article

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