MCID: IMM098
MIFTS: 19

Immunodeficiency 34, Mycobacteriosis, X-Linked malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Aliases & Descriptions for Immunodeficiency 34, Mycobacteriosis, X-Linked:

Name: Immunodeficiency 34, Mycobacteriosis, X-Linked 51
Atypical Mycobacteriosis, Familial, X-Linked 2 12 67
Familial, X-Linked, Atypical Mycobacteriosis 2 69 26
Immunodeficiency 34 51 69
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Cybb Deficiency 53
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 69
 
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 69
X-Linked Immunodeficiency 34, Mycobacteriosis 69
X-Linked Msmd Due to Cybb Deficiency 53
Amcbx2 69
Imd34 69

Characteristics:

HPO:

63
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 300645
Orphanet53 ORPHA319623
ICD10 via Orphanet30 D84.8
MedGen36 C1970859
MeSH38 D007153

Summaries for Immunodeficiency 34, Mycobacteriosis, X-Linked

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UniProtKB/Swiss-Prot:69 Immunodeficiency 34: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette- Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals.

MalaCards based summary: Immunodeficiency 34, Mycobacteriosis, X-Linked, is also known as atypical mycobacteriosis, familial, x-linked 2, and has symptoms including severe recurrent varicella and recurrent mycobacterial infections. An important gene associated with Immunodeficiency 34, Mycobacteriosis, X-Linked is CYBB (Cytochrome B-245 Beta Chain).

OMIM:51 IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG)... (300645) more...

Related Diseases for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Symptoms for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

Human phenotypes related to Immunodeficiency 34, Mycobacteriosis, X-Linked:

 63
id Description HPO Frequency HPO Source Accession
1 severe recurrent varicella63 HP:0005428
2 recurrent mycobacterial infections63 HP:0011274

Drugs & Therapeutics for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Immunodeficiency 34, Mycobacteriosis, X-Linked

Genetic Tests for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Genetic tests related to Immunodeficiency 34, Mycobacteriosis, X-Linked:

id Genetic test Affiliating Genes
1 Atypical Mycobacteriosis, Familial, X-Linked 226

Anatomical Context for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Animal Models for Immunodeficiency 34, Mycobacteriosis, X-Linked or affiliated genes

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Publications for Immunodeficiency 34, Mycobacteriosis, X-Linked

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Variations for Immunodeficiency 34, Mycobacteriosis, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:

69
id Symbol AA change Variation ID SNP ID
1CYBBp.Thr178ProVAR_065365rs151344497
2CYBBp.Gln231ProVAR_065366rs151344498

Clinvar genetic disease variations for Immunodeficiency 34, Mycobacteriosis, X-Linked:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.692A> C (p.Gln231Pro)SNVPathogenicrs151344498GRCh37Chr X, 37658225: 37658225
2CYBBNM_000397.3(CYBB): c.532A> C (p.Thr178Pro)SNVPathogenicrs151344497GRCh37Chr X, 37655252: 37655252

Expression for genes affiliated with Immunodeficiency 34, Mycobacteriosis, X-Linked

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Search GEO for disease gene expression data for Immunodeficiency 34, Mycobacteriosis, X-Linked.

Pathways for genes affiliated with Immunodeficiency 34, Mycobacteriosis, X-Linked

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GO Terms for genes affiliated with Immunodeficiency 34, Mycobacteriosis, X-Linked

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Sources for Immunodeficiency 34, Mycobacteriosis, X-Linked

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet