IMD27B
MCID: IMM186
MIFTS: 20

Immunodeficiency 27b (IMD27B)

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

Aliases & Classifications for Immunodeficiency 27b

MalaCards integrated aliases for Immunodeficiency 27b:

Name: Immunodeficiency 27b 58 76 30 6 74
Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant 58 76
Ifngr1 Deficiency, Autosomal Dominant 58 76
Imd27b 58 76
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 60
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 60
Autosomal Dominant Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 60
Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant 41
Autosomal Dominant Msmd Due to Partial Ifngammar1 Deficiency 60
Immunodeficiency 27b, Mycobacteriosis, Ad 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
patients may develop disseminated disease after bcg vaccination
patients may respond well to treatment with gamma-interferon


HPO:

33
immunodeficiency 27b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 615978
ICD10 via Orphanet 35 D84.8
Orphanet 60 ORPHA319581
UMLS 74 C4014863

Summaries for Immunodeficiency 27b

UniProtKB/Swiss-Prot : 76 Immunodeficiency 27B: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is 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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients.

MalaCards based summary : Immunodeficiency 27b, also known as immunodeficiency 27b, mycobacteriosis, autosomal dominant, is related to immunodeficiency 27a. An important gene associated with Immunodeficiency 27b is IFNGR1 (Interferon Gamma Receptor 1). Related phenotypes are immunodeficiency and osteomyelitis

OMIM : 58 Immunodeficiency-27B results from autosomal dominant (AD) IFNGR1 deficiency. Patients with AD IFNGR1 deficiency commonly present with recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG). In contrast with patients with complete autosomal recessive (AR) IFNGR1 deficiency (IMD27A), cells from patients with AD IFNGR1 deficiency display residual responses to IFNG in vitro, indicating that the deficiency in IFNGR1 is partial. The clinical features of AD IFNGR1 deficiency are usually less severe than those in children with complete AR IFNGR1 deficiency, and mycobacterial infection often occurs later (mean age of 13.4 years vs 1.3 years), with patients having longer mean disease-free survival. In patients with AD IFNGR1 deficiency, M. avium tends to cause unifocal or multifocal osteomyelitis. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008). (615978)

Related Diseases for Immunodeficiency 27b

Diseases related to Immunodeficiency 27b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 27a 11.1

Symptoms & Phenotypes for Immunodeficiency 27b

Human phenotypes related to Immunodeficiency 27b:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 osteomyelitis 33 HP:0002754
3 recurrent mycobacterial infections 33 HP:0011274
4 generalized lymphadenopathy 33 HP:0008940
5 salmonella osteomyelitis 33 HP:0005661

Symptoms via clinical synopsis from OMIM:

58
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to salmonella infections
poor response to gamma-interferon

Clinical features from OMIM:

615978

Drugs & Therapeutics for Immunodeficiency 27b

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 27b

Genetic Tests for Immunodeficiency 27b

Genetic tests related to Immunodeficiency 27b:

# Genetic test Affiliating Genes
1 Immunodeficiency 27b 30 IFNGR1

Anatomical Context for Immunodeficiency 27b

Publications for Immunodeficiency 27b

Articles related to Immunodeficiency 27b:

# Title Authors Year
1
Case 28-2017. A 13-Month-Old Girl with Pneumonia and a 33-Year-Old Woman with Hip Pain. ( 28902581 )
2017
2
Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections. ( 16867158 )
2006
3
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. ( 10192386 )
1999
4
[Generalized familial semibenign BCG infection, salmonella osteomyelitis and intestinal pseudotuberculosis--due to a familial defect of the macrophage system? (author's transl)]. ( 1248490 )
1976

Variations for Immunodeficiency 27b

ClinVar genetic disease variations for Immunodeficiency 27b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFNGR1 NM_000416.2(IFNGR1): c.819_822delTAAT (p.Asn274Hisfs) deletion Pathogenic rs587776856 GRCh37 Chromosome 6, 137522057: 137522060
2 IFNGR1 NM_000416.2(IFNGR1): c.819_822delTAAT (p.Asn274Hisfs) deletion Pathogenic rs587776856 GRCh38 Chromosome 6, 137200920: 137200923
3 IFNGR1 NM_000416.2(IFNGR1): c.819delT (p.Asn274Ilefs) deletion Pathogenic rs587776859 GRCh38 Chromosome 6, 137200923: 137200923
4 IFNGR1 NM_000416.2(IFNGR1): c.819delT (p.Asn274Ilefs) deletion Pathogenic rs587776859 GRCh37 Chromosome 6, 137522060: 137522060
5 IFNGR1 NM_000416.2(IFNGR1): c.794delT (p.Phe265Serfs) deletion Pathogenic rs587776860 GRCh37 Chromosome 6, 137522085: 137522085
6 IFNGR1 NM_000416.2(IFNGR1): c.794delT (p.Phe265Serfs) deletion Pathogenic rs587776860 GRCh38 Chromosome 6, 137200948: 137200948
7 IFNGR1 NM_000416.2(IFNGR1): c.665A> G (p.His222Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 137524704: 137524704
8 IFNGR1 NM_000416.2(IFNGR1): c.665A> G (p.His222Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 137203567: 137203567

Expression for Immunodeficiency 27b

Search GEO for disease gene expression data for Immunodeficiency 27b.

Pathways for Immunodeficiency 27b

GO Terms for Immunodeficiency 27b

Sources for Immunodeficiency 27b

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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