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

About this section

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

Name: Immunodeficiency 34, Mycobacteriosis, X-Linked 50
Atypical Mycobacteriosis, Familial, X-Linked 2 12 66
Familial, X-Linked, Atypical Mycobacteriosis 2 68 25
Immunodeficiency 34 50 68
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Cybb Deficiency 52
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 68
 
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 68
X-Linked Immunodeficiency 34, Mycobacteriosis 68
X-Linked Msmd Due to Cybb Deficiency 52
Amcbx2 68
Imd34 68

Characteristics:

HPO:

62
immunodeficiency 34, mycobacteriosis, x-linked:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 300645
Orphanet52 ORPHA319623
ICD10 via Orphanet29 D84.8
MedGen35 C1970859
MeSH37 D007153

Summaries for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section
UniProtKB/Swiss-Prot:68 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:50 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

About this section

Symptoms for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section

Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

HPO human phenotypes related to Immunodeficiency 34, Mycobacteriosis, X-Linked:

id Description Frequency HPO Source Accession
1 severe recurrent varicella HP:0005428
2 recurrent mycobacterial infections HP:0011274

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

About this section

Interventional clinical trials:

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

Genetic Tests for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section

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

id Genetic test Affiliating Genes
1 Atypical Mycobacteriosis, Familial, X-Linked 225

Anatomical Context for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section

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

About this section

Publications for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section

Variations for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section

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

68
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)single nucleotide variantPathogenicrs151344498GRCh37Chr X, 37658225: 37658225
2CYBBNM_000397.3(CYBB): c.532A> C (p.Thr178Pro)single nucleotide variantPathogenicrs151344497GRCh37Chr X, 37655252: 37655252

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

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

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

About this section

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

About this section

Sources for Immunodeficiency 34, Mycobacteriosis, X-Linked

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet