MCID: IMM172
MIFTS: 17

Immunodeficiency 34

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

Aliases & Classifications for Immunodeficiency 34

MalaCards integrated aliases for Immunodeficiency 34:

Name: Immunodeficiency 34 57 75
Atypical Mycobacteriosis, Familial, X-Linked 2 57 29 13 6 73
Amcbx2 57 75
Imd34 57 75
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Cybb Deficiency 59
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 75
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 75
Atypical Mycobacteriosis, Familial, X-Linked 2; Amcbx2 57
Mycobacteriosis, Atypical, Familial, X-Linked 2 40
Immunodeficiency 34, Mycobacteriosis, X-Linked 57
Familial, X-Linked, Atypical Mycobacteriosis 2 75
X-Linked Immunodeficiency 34, Mycobacteriosis 75
X-Linked Msmd Due to Cybb Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
immunodeficiency 34:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 300645
Orphanet 59 ORPHA319623
ICD10 via Orphanet 34 D84.8
MedGen 42 C1970859
MeSH 44 D007153
UMLS 73 C1970859

Summaries for Immunodeficiency 34

UniProtKB/Swiss-Prot : 75 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, is also known as atypical mycobacteriosis, familial, x-linked 2. An important gene associated with Immunodeficiency 34 is CYBB (Cytochrome B-245 Beta Chain). Related phenotypes are severe recurrent varicella and recurrent mycobacterial infections

OMIM : 57 IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis (Bustamante et al., 2007). (300645)

Related Diseases for Immunodeficiency 34

Symptoms & Phenotypes for Immunodeficiency 34

Symptoms via clinical synopsis from OMIM:

57
Immunology:
recurrent mycobacterial disease (bcg and m. tuberculosis)
varicella zoster infection


Clinical features from OMIM:

300645

Human phenotypes related to Immunodeficiency 34:

32
# Description HPO Frequency HPO Source Accession
1 severe recurrent varicella 32 HP:0005428
2 recurrent mycobacterial infections 32 HP:0011274

Drugs & Therapeutics for Immunodeficiency 34

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 34

Genetic Tests for Immunodeficiency 34

Genetic tests related to Immunodeficiency 34:

# Genetic test Affiliating Genes
1 Atypical Mycobacteriosis, Familial, X-Linked 2 29 CYBB

Anatomical Context for Immunodeficiency 34

Publications for Immunodeficiency 34

Variations for Immunodeficiency 34

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 34:

75
# Symbol AA change Variation ID SNP ID
1 CYBB p.Thr178Pro VAR_065365 rs151344497
2 CYBB p.Gln231Pro VAR_065366 rs151344498

ClinVar genetic disease variations for Immunodeficiency 34:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh37 Chromosome X, 37658225: 37658225
2 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh38 Chromosome X, 37798972: 37798972
3 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh37 Chromosome X, 37655252: 37655252
4 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh38 Chromosome X, 37795999: 37795999

Expression for Immunodeficiency 34

Search GEO for disease gene expression data for Immunodeficiency 34.

Pathways for Immunodeficiency 34

GO Terms for Immunodeficiency 34

Sources for Immunodeficiency 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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