IMD34
MCID: IMM172
MIFTS: 28

Immunodeficiency 34 (IMD34)

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

Aliases & Classifications for Immunodeficiency 34

MalaCards integrated aliases for Immunodeficiency 34:

Name: Immunodeficiency 34 57 12 72 15
Atypical Mycobacteriosis, Familial, X-Linked 2 57 29 13 6 44 70
Amcbx2 57 12 72
Imd34 57 12 72
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Cybb Deficiency 12 58
Immunodeficiency 34, Mycobacteriosis, X-Linked 57 12
X-Linked Msmd Due to Cybb Deficiency 12 58
Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 72
Mendelian Susceptibility to Mycobacterial Disease X-Linked 2 72
Atypical Mycobacteriosis, Familial, X-Linked 2; Amcbx2 57
Mycobacteriosis, Atypical, Familial, X-Linked 2 39
Familial, X-Linked, Atypical Mycobacteriosis 2 72
X-Linked Immunodeficiency 34, Mycobacteriosis 72
Familial Atypical Mycobacteriosis X-Linked 2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
immunodeficiency 34:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0112000
OMIM® 57 300645
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319623
MedGen 41 C1970859
UMLS 70 C1970859

Summaries for Immunodeficiency 34

UniProtKB/Swiss-Prot : 72 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, also known as atypical mycobacteriosis, familial, x-linked 2, is related to organic acidemia and encephalopathy. An important gene associated with Immunodeficiency 34 is CYBB (Cytochrome B-245 Beta Chain), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Remodeling of Adherens Junctions. Related phenotypes are recurrent mycobacterial infections and severe recurrent varicella

Disease Ontology : 12 A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has material basis in hemizygous mutation in CYBB on chromosome Xp21.1-p11.4.

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) (Updated 05-Apr-2021)

Related Diseases for Immunodeficiency 34

Diseases related to Immunodeficiency 34 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 organic acidemia 9.7 PCCA MMUT
2 encephalopathy 9.7 UNC80 CPT2
3 amino acid metabolic disorder 9.7 PCCA MMUT
4 methylmalonic acidemia 9.6 PCCA MMUT
5 maple syrup urine disease 9.6 PCCA MMUT
6 propionic acidemia 9.5 PCCA MMUT CPT2

Graphical network of the top 20 diseases related to Immunodeficiency 34:



Diseases related to Immunodeficiency 34

Symptoms & Phenotypes for Immunodeficiency 34

Human phenotypes related to Immunodeficiency 34:

31
# Description HPO Frequency HPO Source Accession
1 recurrent mycobacterial infections 31 HP:0011274
2 severe recurrent varicella 31 HP:0005428

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
recurrent mycobacterial disease (bcg and m. tuberculosis)
varicella zoster infection

Clinical features from OMIM®:

300645 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Immunodeficiency 34:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 CPT2 CYBB MMUT PCCA TUBG1 UNC80

Drugs & Therapeutics for Immunodeficiency 34

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 34

Cochrane evidence based reviews: atypical mycobacteriosis, familial, x-linked 2

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

Articles related to Immunodeficiency 34:

# Title Authors PMID Year
1
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. 6 57
21278736 2011
2
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. 6 57
17293536 2007

Variations for Immunodeficiency 34

ClinVar genetic disease variations for Immunodeficiency 34:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYBB NM_000397.3(CYBB):c.692A>C (p.Gln231Pro) SNV Pathogenic 29969 rs151344498 GRCh37: X:37658225-37658225
GRCh38: X:37798972-37798972
2 CYBB NM_000397.3(CYBB):c.532A>C (p.Thr178Pro) SNV Pathogenic 29970 rs151344497 GRCh37: X:37655252-37655252
GRCh38: X:37795999-37795999
3 CYBB NM_000397.3(CYBB):c.969A>G (p.Gln323=) SNV Uncertain significance 625929 rs144764222 GRCh37: X:37663201-37663201
GRCh38: X:37803948-37803948

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

72
# Symbol AA change Variation ID SNP ID
1 CYBB p.Thr178Pro VAR_065365 rs151344497
2 CYBB p.Gln231Pro VAR_065366 rs151344498

Expression for Immunodeficiency 34

Search GEO for disease gene expression data for Immunodeficiency 34.

Pathways for Immunodeficiency 34

Pathways related to Immunodeficiency 34 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 PCCA MMUT CPT2
2 11.51 TUBG1 CYBB
3
Show member pathways
11.44 PCCA MMUT
4
Show member pathways
11.23 PCCA MMUT
5
Show member pathways
10.98 PCCA MMUT
6 10.49 PCCA MMUT
7 10.1 PCCA MMUT

GO Terms for Immunodeficiency 34

Biological processes related to Immunodeficiency 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 short-chain fatty acid catabolic process GO:0019626 8.62 PCCA MMUT

Sources for Immunodeficiency 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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