Atypical Mycobacteriosis, Familial (MSMD) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Atypical Mycobacteriosis, Familial

Aliases & Descriptions for Atypical Mycobacteriosis, Familial:

Name: Atypical Mycobacteriosis, Familial 50 13
Atypical Mycobacterial Infection, Disseminated 50 29
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 50
Atypical Mycobacterial Infection, Familial Disseminated 50
Mendelian Susceptibility to Mycobacterial Infections 50
Mycobacterial Disease, Mendelian Susceptibility to 50
Mendelian Susceptibility to Mycobacterial Diseases 50
Mendelian Susceptibility to Atypical Mycobacteria 50
Msmd 50


Summaries for Atypical Mycobacteriosis, Familial

NIH Rare Diseases : 50 mendelian susceptibility to mycobacterial diseases (msmd) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus calmette-guérin (bcg) and environmental mycobacteria. it is characterized by severe, recurrent infections, either systemic (widespread) or localized. it has many subtypes. the most serious types are the autosomal recessive complete interferon gamma receptor 1 (ifn-gammar1) and receptor 2 (ifn-gammar2) deficiencies. msmd due to partial ifn-gammar1, partial ifn-gammar2, complete il-12r-beta1, complete il12b, complete isg15, partial stat1 and partial irf8 deficiencies and msmd due to partial x-linked recessive (xr) mutations are less severe subtypes. only about half of patients with msmd have an identified genetic cause. nine genes are known to be responsible for msmd. seven of them are inherited in an autosomal recessive or autosomal dominant pattern (ifngr1, ifngr2, stat1, il12b, il12rb1, irf8 and isg15 genes) and 2 are x-linked (ikbkg and cybb genes). bcg vaccination should be avoided in those with msmd. treatment includes antibiotics and surgery for lymph node removal in some cases. hematopoietic stem cell transplantation (hsct) may be considered in specific cases. prognosis depends on the specific mutation and the associated disorder.  last updated: 3/31/2016

MalaCards based summary : Atypical Mycobacteriosis, Familial, also known as atypical mycobacterial infection, disseminated, is related to x-linked mendelian susceptibility to mycobacterial diseases and autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency. Affiliated tissues include lymph node.

Related Diseases for Atypical Mycobacteriosis, Familial

Graphical network of the top 20 diseases related to Atypical Mycobacteriosis, Familial:

Diseases related to Atypical Mycobacteriosis, Familial

Symptoms & Phenotypes for Atypical Mycobacteriosis, Familial

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

Interventional clinical trials:

id Name Status NCT ID Phase
1 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
2 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
3 Study of Mycobacterial Infections Recruiting NCT00018044
4 Study of Nontuberculous Mycobacterial Lung Disease Recruiting NCT00970801

Search NIH Clinical Center for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

Genetic tests related to Atypical Mycobacteriosis, Familial:

id Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection 29

Anatomical Context for Atypical Mycobacteriosis, Familial

MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

Lymph Node

Publications for Atypical Mycobacteriosis, Familial

Variations for Atypical Mycobacteriosis, Familial

ClinVar genetic disease variations for Atypical Mycobacteriosis, Familial:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 IFNGR1 NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 GRCh37 Chromosome 6, 137525569: 137525569
2 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh38 Chromosome 6, 137207032: 137207032
3 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh37 Chromosome 6, 137527386: 137527386
4 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh38 Chromosome 6, 137207056: 137207059
5 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh38 Chromosome 6, 137206962: 137206962
6 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh38 Chromosome 6, 137206203: 137206214
7 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh37 Chromosome 6, 137527416: 137527416
8 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh37 Chromosome 6, 137528118: 137528118
9 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh38 Chromosome 6, 137203577: 137203579
10 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh37 Chromosome 6, 137540463: 137540463
11 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh38 Chromosome 6, 137204355: 137204355

Expression for Atypical Mycobacteriosis, Familial

Search GEO for disease gene expression data for Atypical Mycobacteriosis, Familial.

Pathways for Atypical Mycobacteriosis, Familial

GO Terms for Atypical Mycobacteriosis, Familial

Sources for Atypical Mycobacteriosis, Familial

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16 ExPASy
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42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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