MCID: IMM166
MIFTS: 22

Immunodeficiency 27a

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

Aliases & Classifications for Immunodeficiency 27a

MalaCards integrated aliases for Immunodeficiency 27a:

Name: Immunodeficiency 27a 57 75 73
Imd27a 57 75
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 59
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 1 Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar1 Deficiency 59
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 59
Autosomal Recessive Msmd Due to Partial Ifngammar1 Deficiency 59
Msmd Due to Complete Interferon Gamma Receptor 1 Deficiency 59
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive 57
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis 75
Familial Disseminated Atypical Mycobacterial Infection 75
Mycobacterial Disease, Mendelian Susceptibility to 73
Immunodeficiency, Type 27a, Mycobacteriosis, Ar 40
Msmd Due to Complete Ifngammar1 Deficiency 59
Immunodeficiency 27a, Mycobacteriosis, Ar 57
Mycobacterium Infections, Nontuberculous 44
Ifngr1 Deficiency, Autosomal Recessive 57
Autosomal Recessive Ifngr1 Deficiency 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;
mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
may be fatal
patients may develop disseminated disease after bcg vaccination
patients may respond well to treatment with gamma-interferon


HPO:

32
immunodeficiency 27a:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 209950
ICD10 via Orphanet 34 D84.8
MESH via Orphanet 45 C535530
UMLS via Orphanet 74 C2930924
MeSH 44 D009165

Summaries for Immunodeficiency 27a

OMIM : 57 Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. 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). (209950)

MalaCards based summary : Immunodeficiency 27a, also known as imd27a, is related to immunodeficiency 34 and immunodeficiency 28. An important gene associated with Immunodeficiency 27a is IFNGR1 (Interferon Gamma Receptor 1). Related phenotypes are abnormality of abdomen morphology and abnormality of blood and blood-forming tissues

UniProtKB/Swiss-Prot : 75 Immunodeficiency 27A: 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.

Related Diseases for Immunodeficiency 27a

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 34 11.3
2 immunodeficiency 28 10.9
3 immunodeficiency 27b 10.9
4 atypical mycobacteriosis, familial 9.9

Symptoms & Phenotypes for Immunodeficiency 27a

Symptoms via clinical synopsis from OMIM:

57
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to salmonella infections
poor or absent response to gamma-interferon


Clinical features from OMIM:

209950

Human phenotypes related to Immunodeficiency 27a:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of abdomen morphology 32 HP:0001438
2 abnormality of blood and blood-forming tissues 32 HP:0001871
3 salmonella osteomyelitis 32 HP:0005661

Drugs & Therapeutics for Immunodeficiency 27a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 27a

Cochrane evidence based reviews: mycobacterium infections, nontuberculous

Genetic Tests for Immunodeficiency 27a

Anatomical Context for Immunodeficiency 27a

Publications for Immunodeficiency 27a

Articles related to Immunodeficiency 27a:

# Title Authors Year
1
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. ( 8592339 )
1995

Variations for Immunodeficiency 27a

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 27a:

75
# Symbol AA change Variation ID SNP ID
1 IFNGR1 p.Cys77Tyr VAR_017577 rs104893974
2 IFNGR1 p.Ile87Thr VAR_017578 rs104893973
3 IFNGR1 p.Ile37Thr VAR_080059 rs945137618
4 IFNGR1 p.Val61Glu VAR_080060 rs121912715
5 IFNGR1 p.Val63Gly VAR_080062
6 IFNGR1 p.Tyr66Cys VAR_080063
7 IFNGR1 p.Cys77Phe VAR_080064
8 IFNGR1 p.Cys85Tyr VAR_080065
9 IFNGR1 p.Gly219Arg VAR_080071
10 IFNGR1 p.Ser485Phe VAR_080076 rs752113778

ClinVar genetic disease variations for Immunodeficiency 27a:

6
(show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFNGR1 NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 GRCh37 Chromosome 6, 137525569: 137525569
2 IFNGR1 NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 GRCh38 Chromosome 6, 137204432: 137204432
3 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh38 Chromosome 6, 137207032: 137207032
4 IFNGR1 NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs) deletion Pathogenic rs587776853 GRCh37 Chromosome 6, 137528169: 137528169
5 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh37 Chromosome 6, 137527386: 137527386
6 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic,risk factor rs104893973 GRCh38 Chromosome 6, 137206249: 137206249
7 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh38 Chromosome 6, 137207056: 137207059
8 IFNGR1 NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs) duplication Pathogenic rs587776854 GRCh37 Chromosome 6, 137528193: 137528196
9 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh38 Chromosome 6, 137206962: 137206962
10 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 GRCh37 Chromosome 6, 137528099: 137528099
11 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh38 Chromosome 6, 137206203: 137206214
12 IFNGR1 NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) deletion Pathogenic rs587776857 GRCh37 Chromosome 6, 137527340: 137527351
13 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh37 Chromosome 6, 137527416: 137527416
14 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 GRCh38 Chromosome 6, 137206279: 137206279
15 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh37 Chromosome 6, 137528118: 137528118
16 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 GRCh38 Chromosome 6, 137206981: 137206981
17 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh38 Chromosome 6, 137203577: 137203579
18 IFNGR1 NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del) deletion Pathogenic rs587776858 GRCh37 Chromosome 6, 137524714: 137524716
19 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh37 Chromosome 6, 137540463: 137540463
20 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 GRCh38 Chromosome 6, 137219326: 137219326
21 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh37 Chromosome 6, 137525492: 137525492
22 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh38 Chromosome 6, 137204355: 137204355
23 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh37 Chromosome 6, 137540417: 137540417
24 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh38 Chromosome 6, 137219280: 137219280
25 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh38 Chromosome 19, 18077598: 18077598
26 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh37 Chromosome 19, 18188408: 18188408
27 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh38 Chromosome 19, 18075808: 18075808
28 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh37 Chromosome 19, 18186618: 18186618
29 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh38 Chromosome 19, 18073507: 18073507
30 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh37 Chromosome 19, 18184317: 18184317
31 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 137527271: 137527271
32 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 137206134: 137206134
33 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh37 Chromosome 6, 137528200: 137528200
34 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh38 Chromosome 6, 137207063: 137207063
35 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh38 Chromosome 19, 18061194: 18061194
36 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh37 Chromosome 19, 18172004: 18172004
37 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh38 Chromosome 21, 33432210: 33432210
38 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh37 Chromosome 21, 34804517: 34804517
39 IFNGR1 NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 137204451: 137204451
40 IFNGR1 NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 137525588: 137525588
41 IFNGR1 NM_000416.2(IFNGR1): c.201-12_201-9delTATT deletion Likely benign GRCh38 Chromosome 6, 137206317: 137206320
42 IFNGR1 NM_000416.2(IFNGR1): c.201-12_201-9delTATT deletion Likely benign GRCh37 Chromosome 6, 137527454: 137527457
43 IFNGR1 NM_000416.2(IFNGR1): c.181G> A (p.Val61Ile) single nucleotide variant Benign rs17175322 GRCh38 Chromosome 6, 137206982: 137206982
44 IFNGR1 NM_000416.2(IFNGR1): c.181G> A (p.Val61Ile) single nucleotide variant Benign rs17175322 GRCh37 Chromosome 6, 137528119: 137528119
45 IFNGR1 NM_000416.2(IFNGR1): c.1341C> T (p.Thr447=) single nucleotide variant Benign rs41288979 GRCh37 Chromosome 6, 137519297: 137519297
46 IFNGR1 NM_000416.2(IFNGR1): c.1341C> T (p.Thr447=) single nucleotide variant Benign rs41288979 GRCh38 Chromosome 6, 137198160: 137198160
47 IFNGR1 NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=) single nucleotide variant Likely benign rs144715018 GRCh37 Chromosome 6, 137519402: 137519402
48 IFNGR1 NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=) single nucleotide variant Likely benign rs144715018 GRCh38 Chromosome 6, 137198265: 137198265
49 IFNGR1 NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 137198630: 137198630
50 IFNGR1 NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 137519767: 137519767

Expression for Immunodeficiency 27a

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

Pathways for Immunodeficiency 27a

GO Terms for Immunodeficiency 27a

Sources for Immunodeficiency 27a

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10 dbSNP
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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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