IMD60
MCID: IMM199
MIFTS: 17

Immunodeficiency 60 (IMD60)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 60

MalaCards integrated aliases for Immunodeficiency 60:

Name: Immunodeficiency 60 58 6
Immunodeficiency and Autoimmunity, Bach2-Related; Brida 58
Immunodeficiency and Autoimmunity, Bach2-Related 58
Imd60 58
Brida 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable age at onset (range infancy to adult)
three patients from 2 unrelated families have been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 618394

Summaries for Immunodeficiency 60

OMIM : 58 Immunodeficiency-60 (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017). (618394)

MalaCards based summary : Immunodeficiency 60, also known as immunodeficiency and autoimmunity, bach2-related; brida, is related to hepatocellular carcinoma and heart disease. An important gene associated with Immunodeficiency 60 is BACH2 (BTB Domain And CNC Homolog 2). Affiliated tissues include t cells, b cells and lung.

Related Diseases for Immunodeficiency 60

Diseases related to Immunodeficiency 60 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatocellular carcinoma 10.1
2 heart disease 10.1

Symptoms & Phenotypes for Immunodeficiency 60

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Respiratory Lung:
bronchiectasis
lung infiltrates

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease
inflammatory infiltrate
recurrent diarrhea crypt branching

Immunology:
recurrent infections
low memory b cells
decreased regulatory t cells
hypogammaglobulinemia, variable
impaired b cell class switching
more
Respiratory:
recurrent sinopulmonary infections

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM:

618394

Drugs & Therapeutics for Immunodeficiency 60

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 60

Genetic Tests for Immunodeficiency 60

Anatomical Context for Immunodeficiency 60

MalaCards organs/tissues related to Immunodeficiency 60:

42
T Cells, B Cells, Lung, Heart

Publications for Immunodeficiency 60

Articles related to Immunodeficiency 60:

# Title Authors Year
1
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. ( 28530713 )
2017

Variations for Immunodeficiency 60

ClinVar genetic disease variations for Immunodeficiency 60:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BACH2 NM_021813.4(BACH2): c.71T> C (p.Leu24Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 90718493: 90718493
2 BACH2 NM_021813.4(BACH2): c.71T> C (p.Leu24Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 90008774: 90008774
3 BACH2 NM_021813.4(BACH2): c.2362G> A (p.Glu788Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 90642291: 90642291
4 BACH2 NM_021813.4(BACH2): c.2362G> A (p.Glu788Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 89932572: 89932572

Expression for Immunodeficiency 60

Search GEO for disease gene expression data for Immunodeficiency 60.

Pathways for Immunodeficiency 60

GO Terms for Immunodeficiency 60

Sources for Immunodeficiency 60

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
43 MedGen
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
74 UMLS
75 UMLS via Orphanet
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