MCID: ATY012
MIFTS: 27

Atypical Mycobacteriosis, Familial

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Atypical Mycobacteriosis, Familial

MalaCards integrated aliases for Atypical Mycobacteriosis, Familial:

Name: Atypical Mycobacteriosis, Familial 54 13
Disseminated Atypical Mycobacterial Infection 30 6 17
Atypical Mycobacterial Infection, Disseminated 54 74
Idiopathic Infection Caused by Bcg or Atypical Mycobacteria 54
Atypical Mycobacterial Infection, Familial Disseminated 54
Mendelian Susceptibility to Mycobacterial Infections 54
Mycobacterial Disease, Mendelian Susceptibility to 54
Mendelian Susceptibility to Mycobacterial Diseases 54
Mendelian Susceptibility to Atypical Mycobacteria 54
Msmd 54

Classifications:



External Ids:

UMLS 74 C0694566

Summaries for Atypical Mycobacteriosis, Familial

NIH Rare Diseases : 54 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. 

MalaCards based summary : Atypical Mycobacteriosis, Familial, also known as disseminated atypical mycobacterial infection, is related to immunodeficiency 30 and immunodeficiency 34. An important gene associated with Atypical Mycobacteriosis, Familial is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Toxoplasmosis. Affiliated tissues include lymph node, liver and lung, and related phenotype is neoplasm.

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

MGI Mouse Phenotypes related to Atypical Mycobacteriosis, Familial:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 CYBB IFNGR1

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial

Search Clinical Trials , NIH Clinical Center for Atypical Mycobacteriosis, Familial

Genetic Tests for Atypical Mycobacteriosis, Familial

Genetic tests related to Atypical Mycobacteriosis, Familial:

# Genetic test Affiliating Genes
1 Disseminated Atypical Mycobacterial Infection 30 IFNGR1

Anatomical Context for Atypical Mycobacteriosis, Familial

MalaCards organs/tissues related to Atypical Mycobacteriosis, Familial:

42
Lymph Node, Liver, Lung, Thyroid, Smooth Muscle

Publications for Atypical Mycobacteriosis, Familial

Articles related to Atypical Mycobacteriosis, Familial:

(show all 17)
# Title Authors Year
1
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. ( 19880857 )
2010
2
Portal hypertension and granulomatous liver disease in a lung transplant recipient due to disseminated atypical mycobacterial infection. ( 17359513 )
2007
3
The use of adjuvant granulocyte-macrophage colony-stimulating factor in HIV-related disseminated atypical mycobacterial infection. ( 17197031 )
2007
4
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. ( 10811850 )
2000
5
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. ( 9497247 )
1998
6
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. ( 9389728 )
1997
7
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. ( 9142806 )
1997
8
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. ( 8960473 )
1996
9
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. ( 8960475 )
1996
10
Familial disseminated atypical mycobacterial infection in childhood. ( 7715325 )
1995
11
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? ( 7815885 )
1995
12
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. ( 8592339 )
1995
13
Disseminated atypical mycobacterial infection in patients with hairy cell leukemia. ( 3706377 )
1986
14
Disseminated atypical mycobacterial infection in hairy cell leukemia. ( 6646815 )
1983
15
Hairy cell leukemia: association with disseminated atypical mycobacterial infection. ( 7237406 )
1981
16
Disseminated atypical mycobacterial infection in hairy-cell leukaemia. ( 82068 )
1978
17
Disseminated atypical mycobacterial infection and pancytopenia. ( 5650780 )
1968

Variations for Atypical Mycobacteriosis, Familial

ClinVar genetic disease variations for Atypical Mycobacteriosis, Familial:

6 (show top 50) (show all 76)
# 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.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 GRCh38 Chromosome 6, 137204432: 137204432
3 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh38 Chromosome 6, 137207032: 137207032
4 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh37 Chromosome 6, 137528169: 137528169
5 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh37 Chromosome 6, 137527386: 137527386
6 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh38 Chromosome 6, 137206249: 137206249
7 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh38 Chromosome 6, 137207056: 137207059
8 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh37 Chromosome 6, 137528193: 137528196
9 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh38 Chromosome 6, 137206962: 137206962
10 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh37 Chromosome 6, 137528099: 137528099
11 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh38 Chromosome 6, 137206203: 137206214
12 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh37 Chromosome 6, 137527340: 137527351
13 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh37 Chromosome 6, 137527416: 137527416
14 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh38 Chromosome 6, 137206279: 137206279
15 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh37 Chromosome 6, 137528118: 137528118
16 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh38 Chromosome 6, 137206981: 137206981
17 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh38 Chromosome 6, 137203577: 137203579
18 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh37 Chromosome 6, 137524714: 137524716
19 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh37 Chromosome 6, 137540463: 137540463
20 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh38 Chromosome 6, 137219326: 137219326
21 IFNGR1 NM_000416.2(IFNGR1): c.1004A> C (p.His335Pro) single nucleotide variant Benign/Likely benign rs17175350 GRCh37 Chromosome 6, 137519634: 137519634
22 IFNGR1 NM_000416.2(IFNGR1): c.1004A> C (p.His335Pro) single nucleotide variant Benign/Likely benign rs17175350 GRCh38 Chromosome 6, 137198497: 137198497
23 IFNGR1 NM_000416.2(IFNGR1): c.42G> A (p.Val14=) single nucleotide variant Conflicting interpretations of pathogenicity rs17181471 GRCh37 Chromosome 6, 137540423: 137540423
24 IFNGR1 NM_000416.2(IFNGR1): c.42G> A (p.Val14=) single nucleotide variant Conflicting interpretations of pathogenicity rs17181471 GRCh38 Chromosome 6, 137219286: 137219286
25 IFNGR1 NM_000416.2(IFNGR1): c.489C> T (p.Pro163=) single nucleotide variant Benign/Likely benign rs41288981 GRCh37 Chromosome 6, 137525526: 137525526
26 IFNGR1 NM_000416.2(IFNGR1): c.489C> T (p.Pro163=) single nucleotide variant Benign/Likely benign rs41288981 GRCh38 Chromosome 6, 137204389: 137204389
27 IFNGR1 NM_000416.2(IFNGR1): c.1027G> A (p.Val343Met) single nucleotide variant Uncertain significance rs121913185 GRCh38 Chromosome 6, 137198474: 137198474
28 IFNGR1 NM_000416.2(IFNGR1): c.1027G> A (p.Val343Met) single nucleotide variant Uncertain significance rs121913185 GRCh37 Chromosome 6, 137519611: 137519611
29 IFNGR1 NM_000416.2(IFNGR1) duplication Likely benign rs137854905 GRCh38 Chromosome 6, 137198271: 137198297
30 IFNGR1 NM_000416.2(IFNGR1) duplication Likely benign rs137854905 GRCh37 Chromosome 6, 137519408: 137519434
31 IFNGR2 NM_005534.3(IFNGR2): c.466A> C (p.Ile156Leu) single nucleotide variant Likely benign rs121913208 GRCh37 Chromosome 21, 34799244: 34799244
32 IFNGR2 NM_005534.3(IFNGR2): c.466A> C (p.Ile156Leu) single nucleotide variant Likely benign rs121913208 GRCh38 Chromosome 21, 33426937: 33426937
33 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh37 Chromosome 6, 137525492: 137525492
34 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh38 Chromosome 6, 137204355: 137204355
35 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh38 Chromosome 6, 137219280: 137219280
36 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh37 Chromosome 6, 137540417: 137540417
37 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh38 Chromosome 19, 18077598: 18077598
38 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh37 Chromosome 19, 18188408: 18188408
39 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh38 Chromosome 19, 18075808: 18075808
40 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh37 Chromosome 19, 18186618: 18186618
41 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh38 Chromosome 19, 18073507: 18073507
42 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh37 Chromosome 19, 18184317: 18184317
43 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic rs1554227230 GRCh37 Chromosome 6, 137527271: 137527271
44 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic rs1554227230 GRCh38 Chromosome 6, 137206134: 137206134
45 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh37 Chromosome 6, 137528200: 137528200
46 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh38 Chromosome 6, 137207063: 137207063
47 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh38 Chromosome 19, 18061194: 18061194
48 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh37 Chromosome 19, 18172004: 18172004
49 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh38 Chromosome 21, 33432210: 33432210
50 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh37 Chromosome 21, 34804517: 34804517

Expression for Atypical Mycobacteriosis, Familial

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

Pathways for Atypical Mycobacteriosis, Familial

Pathways related to Atypical Mycobacteriosis, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 CYBB IFNGR1
2
Show member pathways
11.53 CYBB IFNGR1
3
Show member pathways
11.39 CYBB IFNGR1
4 10.96 CYBB IFNGR1
5 10.19 CYBB IFNGR1

GO Terms for Atypical Mycobacteriosis, Familial

Sources for Atypical Mycobacteriosis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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