IMD27B
MCID: IMM186
MIFTS: 23

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 57 74 29 6 72
Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant 57 74
Immunodeficiency 27b, Mycobacteriosis, Ad 57 29
Ifngr1 Deficiency, Autosomal Dominant 57 74
Imd27b 57 74
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 59
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 59
Autosomal Dominant Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 59
Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant 40
Autosomal Dominant Msmd Due to Partial Ifngammar1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency 27b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 34 D84.8
Orphanet 59 ORPHA319581
UMLS 72 C4014863

Summaries for Immunodeficiency 27b

UniProtKB/Swiss-Prot : 74 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 : 57 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 11.3

Symptoms & Phenotypes for Immunodeficiency 27b

Human phenotypes related to Immunodeficiency 27b:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 osteomyelitis 32 HP:0002754
3 recurrent mycobacterial infections 32 HP:0011274
4 generalized lymphadenopathy 32 HP:0008940
5 salmonella osteomyelitis 32 HP:0005661

Symptoms via clinical synopsis from OMIM:

57
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 29 IFNGR1
2 Immunodeficiency 27b, Mycobacteriosis, Ad 29

Anatomical Context for Immunodeficiency 27b

Publications for Immunodeficiency 27b

Articles related to Immunodeficiency 27b:

# Title Authors PMID Year
1
Case 28-2017. A 13-Month-Old Girl with Pneumonia and a 33-Year-Old Woman with Hip Pain. 8 71
28902581 2017
2
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. 8 71
10192386 1999
3
[Generalized familial semibenign BCG infection, salmonella osteomyelitis and intestinal pseudotuberculosis--due to a familial defect of the macrophage system? (author's transl)]. 8 71
1248490 1976
4
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 8
19084105 2008
5
Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections. 71
16867158 2006
6
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 8
15589309 2004
7
Divergent role for TNF-alpha in IFN-gamma-induced killing of Toxoplasma gondii and Salmonella typhimurium contributes to selective susceptibility of patients with partial IFN-gamma receptor 1 deficiency. 8
12244188 2002

Variations for Immunodeficiency 27b

ClinVar genetic disease variations for Immunodeficiency 27b:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFNGR1 NM_000416.2(IFNGR1): c.819del (p.Asn274fs) deletion Pathogenic rs587776859 6:137522060-137522060 6:137200923-137200923
2 IFNGR1 NM_000416.2(IFNGR1): c.819_822del (p.Asn274fs) deletion Pathogenic rs587776856 6:137522057-137522060 6:137200920-137200923
3 IFNGR1 NM_000416.2(IFNGR1): c.794del (p.Phe265fs) deletion Pathogenic rs587776860 6:137522085-137522085 6:137200948-137200948
4 IFNGR1 NM_000416.2(IFNGR1): c.665A> G (p.His222Arg) single nucleotide variant Uncertain significance 6:137524704-137524704 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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