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Inherited susceptibility to mycobacterial diseases(MSMD)

MedGen UID:
473805
•Concept ID:
C3266863
•
Disease or Syndrome
Synonyms: Mammalian Susceptibility to Mycobacterial Disease; MSMD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019146
Orphanet: ORPHA748

Definition

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inherited susceptibility to mycobacterial diseases

Professional guidelines

PubMed

Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease.
Dalvi A, Bargir UA, Natraj G, Shah I, Madkaikar M
Pathogens 2024 Feb 25;13(3) doi: 10.3390/pathogens13030203. PMID: 38535546Free PMC Article
Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options.
Barcenas-Morales G, Cortes-Acevedo P, Doffinger R
Curr Opin Infect Dis 2019 Aug;32(4):330-336. doi: 10.1097/QCO.0000000000000561. PMID: 31116133Free PMC Article
Key issues in the diagnosis and management of tuberculosis.
Milburn H
J R Soc Med 2007 Mar;100(3):134-41. doi: 10.1177/014107680710000312. PMID: 17339309Free PMC Article

Recent clinical studies

Etiology

Epidemiology of human pulmonary infection with nontuberculous mycobacteria: a review.
Prevots DR, Marras TK
Clin Chest Med 2015 Mar;36(1):13-34. Epub 2014 Nov 6 doi: 10.1016/j.ccm.2014.10.002. PMID: 25676516Free PMC Article
The immune response in tuberculosis.
O'Garra A, Redford PS, McNab FW, Bloom CI, Wilkinson RJ, Berry MP
Annu Rev Immunol 2013;31:475-527. doi: 10.1146/annurev-immunol-032712-095939. PMID: 23516984
Nonalcoholic, nonbiliary pancreatitis: cross-sectional imaging spectrum.
Sunnapwar A, Prasad SR, Menias CO, Shanbhogue AK, Katre R, Raut A
AJR Am J Roentgenol 2010 Jul;195(1):67-75. doi: 10.2214/AJR.09.4048. PMID: 20566798
Mendelian randomization: prospects, potentials, and limitations.
Smith GD, Ebrahim S
Int J Epidemiol 2004 Feb;33(1):30-42. doi: 10.1093/ije/dyh132. PMID: 15075143
Diagnosis of defects in the type 1 cytokine pathway.
Lammas DA, Drysdale P, Ben-Smith A, Girdlestone J, Edgar D, Kumararatne DS
Microbes Infect 2000 Nov;2(13):1567-78. doi: 10.1016/s1286-4579(00)01313-7. PMID: 11113376

Diagnosis

Anti-interferon-γ autoantibody-associated immunodeficiency.
Shih HP, Ding JY, Yeh CF, Chi CY, Ku CL
Curr Opin Immunol 2021 Oct;72:206-214. Epub 2021 Jun 25 doi: 10.1016/j.coi.2021.05.007. PMID: 34175547
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S, Asano T, Moriya K, Boisson-Dupuis S, Kobayashi M, Casanova JL, Puel A
J Clin Immunol 2020 Nov;40(8):1065-1081. Epub 2020 Aug 27 doi: 10.1007/s10875-020-00847-x. PMID: 32852681Free PMC Article
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
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
Lung cancer in never smokers: disease characteristics and risk factors.
Pallis AG, Syrigos KN
Crit Rev Oncol Hematol 2013 Dec;88(3):494-503. Epub 2013 Aug 4 doi: 10.1016/j.critrevonc.2013.06.011. PMID: 23921082
The immune response in tuberculosis.
O'Garra A, Redford PS, McNab FW, Bloom CI, Wilkinson RJ, Berry MP
Annu Rev Immunol 2013;31:475-527. doi: 10.1146/annurev-immunol-032712-095939. PMID: 23516984

Therapy

Advances on the Role and Applications of Interleukin-1 in Tuberculosis.
Silvério D, Gonçalves R, Appelberg R, Saraiva M
mBio 2021 Dec 21;12(6):e0313421. Epub 2021 Nov 23 doi: 10.1128/mBio.03134-21. PMID: 34809460Free PMC Article
Impact of vitamin D in the treatment of tuberculosis.
Luong Kv, Nguyen LT
Am J Med Sci 2011 Jun;341(6):493-8. doi: 10.1097/MAJ.0b013e3182070f47. PMID: 21289501
Mendelian randomization: prospects, potentials, and limitations.
Smith GD, Ebrahim S
Int J Epidemiol 2004 Feb;33(1):30-42. doi: 10.1093/ije/dyh132. PMID: 15075143
Leprosy.
Engers H, Morel CM
Nat Rev Microbiol 2003 Nov;1(2):94-5. doi: 10.1038/nrmicro764. PMID: 15035038
Leprosy.
Rea TH, Modlin RL
Immunol Ser 1989;46:723-45. PMID: 2488876

Prognosis

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S, Asano T, Moriya K, Boisson-Dupuis S, Kobayashi M, Casanova JL, Puel A
J Clin Immunol 2020 Nov;40(8):1065-1081. Epub 2020 Aug 27 doi: 10.1007/s10875-020-00847-x. PMID: 32852681Free PMC Article
Tuberculosis and lung damage: from epidemiology to pathophysiology.
Ravimohan S, Kornfeld H, Weissman D, Bisson GP
Eur Respir Rev 2018 Mar 31;27(147) Epub 2018 Feb 28 doi: 10.1183/16000617.0077-2017. PMID: 29491034Free PMC Article
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
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
Lung cancer in never smokers: disease characteristics and risk factors.
Pallis AG, Syrigos KN
Crit Rev Oncol Hematol 2013 Dec;88(3):494-503. Epub 2013 Aug 4 doi: 10.1016/j.critrevonc.2013.06.011. PMID: 23921082
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC), Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH
Nature 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582. PMID: 23128233Free PMC Article

Clinical prediction guides

Anti-interferon-γ autoantibody-associated immunodeficiency.
Shih HP, Ding JY, Yeh CF, Chi CY, Ku CL
Curr Opin Immunol 2021 Oct;72:206-214. Epub 2021 Jun 25 doi: 10.1016/j.coi.2021.05.007. PMID: 34175547
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
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
Lung cancer in never smokers: disease characteristics and risk factors.
Pallis AG, Syrigos KN
Crit Rev Oncol Hematol 2013 Dec;88(3):494-503. Epub 2013 Aug 4 doi: 10.1016/j.critrevonc.2013.06.011. PMID: 23921082
Host genomics and control of tuberculosis infection.
Cobat A, Orlova M, Barrera LF, Schurr E
Public Health Genomics 2013;16(1-2):44-9. Epub 2013 Mar 18 doi: 10.1159/000341499. PMID: 23548717
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC), Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH
Nature 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582. PMID: 23128233Free PMC Article

Recent systematic reviews

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A, Mahdaviani SA, Zaki-Dizaji M, Khalili-Moghaddam F, Ansari S, Alijani S, Taherzadeh-Ghahfarrokhi N, Mansouri D, Casanova JL, Bustamante J, Jamee M
J Allergy Clin Immunol 2024 May;153(5):1432-1444. Epub 2024 Feb 8 doi: 10.1016/j.jaci.2024.01.021. PMID: 38341181Free PMC Article
Systematic review and meta-analysis of human Toll-like receptors genetic polymorphisms for susceptibility to tuberculosis infection.
Varshney D, Singh S, Sinha E, Mohanty KK, Kumar S, Kumar Barik S, Patil SA, Katara P
Cytokine 2022 Apr;152:155791. Epub 2022 Feb 11 doi: 10.1016/j.cyto.2021.155791. PMID: 35158257
Association between P2X7 Polymorphisms and Susceptibility to Tuberculosis: An Updated Meta-Analysis of Case-Control Studies.
Taheri M, Sarani H, Moazeni-Roodi A, Naderi M, Hashemi M
Medicina (Kaunas) 2019 Jun 21;55(6) doi: 10.3390/medicina55060298. PMID: 31234470Free PMC Article
Vitamin D receptor expression and hepcidin levels in the protection or severity of leprosy: a systematic review.
Oliveira ALG, Chaves AT, Menezes CAS, Guimarães NS, Bueno LL, Fujiwara RT, Rocha MODC
Microbes Infect 2017 Jun;19(6):311-322. Epub 2017 Mar 16 doi: 10.1016/j.micinf.2017.03.001. PMID: 28323068
SLC11A1 (NRAMP1) polymorphisms and tuberculosis susceptibility: updated systematic review and meta-analysis.
Li X, Yang Y, Zhou F, Zhang Y, Lu H, Jin Q, Gao L
PLoS One 2011 Jan 25;6(1):e15831. doi: 10.1371/journal.pone.0015831. PMID: 21283567Free PMC Article

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