IMD60
MCID: IMM199
MIFTS: 31

Immunodeficiency 60 (IMD60)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 60

MalaCards integrated aliases for Immunodeficiency 60:

Name: Immunodeficiency 60 57 12 72 29 6 15
Imd60 57 12 72
Brida 57 12 72
Immunodeficiency and Autoimmunity, Bach2-Related 57 72
Immunodeficiency and Autoimmunity, Bach2-Related; Brida 57
Bach2-Related Immunodeficiency and Autoimmunity 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
immunodeficiency 60:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111954
OMIM® 57 618394
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
UMLS 70 C5193072

Summaries for Immunodeficiency 60

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 60, also known as imd60, is related to hepatocellular carcinoma and human cytomegalovirus infection. An important gene associated with Immunodeficiency 60 is BACH2 (BTB Domain And CNC Homolog 2). Affiliated tissues include t cells, b cells and liver, and related phenotypes are chronic diarrhea and recurrent sinopulmonary infections

Disease Ontology : 12 A combined T cell and B ell immunodeficiency characterized by dysregulation of both B and T cells, inflammatory bowel disease and recurrent sinopulmonary infections that has material basis in heterozygous mutation in BACH2 on chromosome 6q15.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 60: An autosomal dominant primary immunologic disorder characterized by intestinal inflammation, recurrent sino-pulmonary infections, impaired lymphocyte maturation, and variably decreased immunoglobulin production.

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 9.9
2 human cytomegalovirus infection 9.9
3 heart disease 9.9
4 sclerosing cholangitis 9.9
5 cholecystitis 9.9
6 bilirubin metabolic disorder 9.9
7 cholangitis 9.9
8 liver adenomatosis 9.9

Graphical network of the top 20 diseases related to Immunodeficiency 60:



Diseases related to Immunodeficiency 60

Symptoms & Phenotypes for Immunodeficiency 60

Human phenotypes related to Immunodeficiency 60:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 chronic diarrhea 31 very rare (1%) HP:0002028
2 recurrent sinopulmonary infections 31 very rare (1%) HP:0005425
3 bronchiectasis 31 very rare (1%) HP:0002110
4 decreased circulating iga level 31 very rare (1%) HP:0002720
5 decreased circulating igg level 31 very rare (1%) HP:0004315
6 decreased circulating total igm 31 very rare (1%) HP:0002850
7 crohn's disease 31 very rare (1%) HP:0100280
8 ulcerative colitis 31 very rare (1%) HP:0100279
9 decreased proportion of memory b cells 31 very rare (1%) HP:0030374
10 decreased circulating ige 31 very rare (1%) HP:0005479
11 perinuclear antineutrophil antibody positivity 31 very rare (1%) HP:0032229
12 decreased basophil count 31 very rare (1%) HP:0031808
13 splenomegaly 31 HP:0001744
14 fever 31 HP:0001945
15 pulmonary fibrosis 31 HP:0002206
16 pancytopenia 31 HP:0001876
17 pulmonary infiltrates 31 HP:0002113

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Respiratory:
recurrent sinopulmonary infections

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 Lung:
bronchiectasis
lung infiltrates

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM®:

618394 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 60

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 60

Genetic Tests for Immunodeficiency 60

Genetic tests related to Immunodeficiency 60:

# Genetic test Affiliating Genes
1 Immunodeficiency 60 29 BACH2

Anatomical Context for Immunodeficiency 60

MalaCards organs/tissues related to Immunodeficiency 60:

40
T Cells, B Cells, Liver, Heart, Lung

Publications for Immunodeficiency 60

Articles related to Immunodeficiency 60:

(show all 15)
# Title Authors PMID Year
1
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. 57 6 61
28530713 2017
2
Bile Collection Detected With BrIDA Scintigraphy in a Patient With Hepatocellular Carcinoma. 61
30222677 2018
3
Response by Brida et al to Letter Regarding Article, "Systemic Right Ventricle in Adults With Congenital Heart Disease: Anatomic and Phenotypic Spectrum and Current Approach to Management". 61
30012708 2018
4
(99m)Tc-BrIDA cholescintigraphy in a spontaneous biliary perforation of an infant. 61
26654887 2016
5
Resolving bile reflux by lanreotide in patients with Roux-en-Y gastrojejunostomy. 61
25682623 2014
6
Choline treatment affects the liver reticuloendothelial system and plasma fatty acid composition in diabetic rats. 61
23692619 2013
7
Tc-99m-BrIDA hepatobiliary (HIDA) scan has a low sensitivity for detecting biliary complications after orthotopic liver transplantation in patients with hyperbilirubinemia. 61
21845382 2011
8
(99m)Tc sulfur colloid and (99m)Tc mebrofenin hepatobiliary functional liver imaging in normal and diabetic rats. 61
21252566 2011
9
99mTc sestamibi imaging - can it be a useful substitute for hepatobiliary scintigraphy in infantile jaundice? 61
19322500 2009
10
Hepatobiliary scintigraphy and gamma-GT levels in the differential diagnosis of extrahepatic biliary atresia. 61
17220819 2007
11
In liver transplantation, T tube bile represents total bile flow: physiological and scintigraphic studies on biliary secretion of organic anions. 61
9873086 1999
12
A comparison of intercuff and single cuff techniques of intravenous regional anaesthesia using 0.5% prilocaine mixed with technetium 99m-labelled BRIDA. 61
9349063 1997
13
Standardization of a technique for BrIDA cholescintigraphy. 61
8878135 1996
14
Helicobacter pylori may induce bile reflux: link between H pylori and bile induced injury to gastric epithelium. 61
8566844 1996
15
99mTc-trimethyl-BrIDA scintigraphy in HIV-related cholangiopathy. 61
8596743 1995

Variations for Immunodeficiency 60

ClinVar genetic disease variations for Immunodeficiency 60:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BACH2 NM_021813.4(BACH2):c.71T>C (p.Leu24Pro) SNV Pathogenic 625843 rs1562364898 GRCh37: 6:90718493-90718493
GRCh38: 6:90008774-90008774
2 BACH2 NM_021813.4(BACH2):c.2362G>A (p.Glu788Lys) SNV Pathogenic 625844 rs757652995 GRCh37: 6:90642291-90642291
GRCh38: 6:89932572-89932572
3 BACH2 NM_021813.4(BACH2):c.1724T>C (p.Val575Ala) SNV Uncertain significance 989283 GRCh37: 6:90660101-90660101
GRCh38: 6:89950382-89950382
4 BACH2 NM_021813.4(BACH2):c.1102C>T (p.Pro368Ser) SNV Uncertain significance 1030768 GRCh37: 6:90660723-90660723
GRCh38: 6:89951004-89951004

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 60:

72
# Symbol AA change Variation ID SNP ID
1 BACH2 p.Leu24Pro VAR_082216

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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