IMD27A
MCID: IMM166
MIFTS: 25

Immunodeficiency 27a (IMD27A)

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

Aliases & Classifications for Immunodeficiency 27a

MalaCards integrated aliases for Immunodeficiency 27a:

Name: Immunodeficiency 27a 58 76 74
Imd27a 58 76
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 60
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 60
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 1 Deficiency 60
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar1 Deficiency 60
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 60
Autosomal Recessive Msmd Due to Partial Ifngammar1 Deficiency 60
Msmd Due to Complete Interferon Gamma Receptor 1 Deficiency 60
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive 58
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis 76
Familial Disseminated Atypical Mycobacterial Infection 76
Mycobacterial Disease, Mendelian Susceptibility to 74
Immunodeficiency, Type 27a, Mycobacteriosis, Ar 41
Msmd Due to Complete Ifngammar1 Deficiency 60
Immunodeficiency 27a, Mycobacteriosis, Ar 58
Mycobacterium Infections, Nontuberculous 45
Ifngr1 Deficiency, Autosomal Recessive 58
Autosomal Recessive Ifngr1 Deficiency 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
immunodeficiency 27a:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


Summaries for Immunodeficiency 27a

OMIM : 58 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). Affiliated tissues include lymph node, and related phenotypes are splenomegaly and fever

UniProtKB/Swiss-Prot : 76 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 11.5
2 immunodeficiency 28 11.1
3 immunodeficiency 27b 11.1
4 atypical mycobacteriosis, familial 10.3

Symptoms & Phenotypes for Immunodeficiency 27a

Human phenotypes related to Immunodeficiency 27a:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 fever 33 HP:0001945
3 anemia 33 HP:0001903
4 weight loss 33 HP:0001824
5 anorexia 33 HP:0002039
6 thrombocytosis 33 HP:0001894
7 leukocytosis 33 HP:0001974
8 diarrhea 33 HP:0002014
9 pneumonia 33 HP:0002090
10 lymphadenopathy 33 HP:0002716
11 pulmonary infiltrates 33 HP:0002113
12 hepatosplenomegaly 33 HP:0001433
13 elevated erythrocyte sedimentation rate 33 HP:0003565
14 hypoalbuminemia 33 HP:0003073
15 histiocytosis 33 HP:0100727
16 night sweats 33 HP:0030166
17 rheumatoid factor positive 33 HP:0002923
18 abnormality of abdomen morphology 33 HP:0001438
19 increased circulating igg level 33 HP:0003237
20 increased circulating igm level 33 HP:0003496
21 salmonella osteomyelitis 33 HP:0005661
22 hypoplasia of the femoral head 33 HP:0008802
23 enlarged mesenteric lymph node 33 HP:0025043
24 abnormal bronchus physiology 33 HP:0025427

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

209950

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

MalaCards organs/tissues related to Immunodeficiency 27a:

42
Lymph Node

Publications for Immunodeficiency 27a

Articles related to Immunodeficiency 27a:

# Title Authors Year
1
Familial disseminated atypical mycobacterial infection in childhood. ( 7715325 )
1995
2
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? ( 7815885 )
1995
3
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:

76
# 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 rs131166148
10 IFNGR1 p.Ser485Phe VAR_080076 rs752113778

ClinVar genetic disease variations for Immunodeficiency 27a:

6 (show top 50) (show all 76)
# 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.1004A> C (p.His335Pro) single nucleotide variant Benign/Likely benign rs17175350 GRCh37 Chromosome 6, 137519634: 137519634
22 IFNGR1 NM_000416.2(IFNGR1): c.1004A> C (p.His335Pro) single nucleotide variant Benign/Likely benign rs17175350 GRCh38 Chromosome 6, 137198497: 137198497
23 IFNGR1 NM_000416.2(IFNGR1): c.42G> A (p.Val14=) single nucleotide variant Conflicting interpretations of pathogenicity rs17181471 GRCh37 Chromosome 6, 137540423: 137540423
24 IFNGR1 NM_000416.2(IFNGR1): c.42G> A (p.Val14=) single nucleotide variant Conflicting interpretations of pathogenicity rs17181471 GRCh38 Chromosome 6, 137219286: 137219286
25 IFNGR1 NM_000416.2(IFNGR1): c.489C> T (p.Pro163=) single nucleotide variant Benign/Likely benign rs41288981 GRCh37 Chromosome 6, 137525526: 137525526
26 IFNGR1 NM_000416.2(IFNGR1): c.489C> T (p.Pro163=) single nucleotide variant Benign/Likely benign rs41288981 GRCh38 Chromosome 6, 137204389: 137204389
27 IFNGR1 NM_000416.2(IFNGR1): c.1027G> A (p.Val343Met) single nucleotide variant Uncertain significance rs121913185 GRCh38 Chromosome 6, 137198474: 137198474
28 IFNGR1 NM_000416.2(IFNGR1): c.1027G> A (p.Val343Met) single nucleotide variant Uncertain significance rs121913185 GRCh37 Chromosome 6, 137519611: 137519611
29 IFNGR1 NM_000416.2(IFNGR1) duplication Likely benign rs137854905 GRCh38 Chromosome 6, 137198271: 137198297
30 IFNGR1 NM_000416.2(IFNGR1) duplication Likely benign rs137854905 GRCh37 Chromosome 6, 137519408: 137519434
31 IFNGR2 NM_005534.3(IFNGR2): c.466A> C (p.Ile156Leu) single nucleotide variant Likely benign rs121913208 GRCh37 Chromosome 21, 34799244: 34799244
32 IFNGR2 NM_005534.3(IFNGR2): c.466A> C (p.Ile156Leu) single nucleotide variant Likely benign rs121913208 GRCh38 Chromosome 21, 33426937: 33426937
33 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh37 Chromosome 6, 137525492: 137525492
34 IFNGR1 NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs) deletion Pathogenic rs749956849 GRCh38 Chromosome 6, 137204355: 137204355
35 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh38 Chromosome 6, 137219280: 137219280
36 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 GRCh37 Chromosome 6, 137540417: 137540417
37 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh38 Chromosome 19, 18077598: 18077598
38 IL12RB1 NM_005535.2(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 GRCh37 Chromosome 19, 18188408: 18188408
39 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh38 Chromosome 19, 18075808: 18075808
40 IL12RB1 NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg) single nucleotide variant Benign/Likely benign rs11575934 GRCh37 Chromosome 19, 18186618: 18186618
41 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh38 Chromosome 19, 18073507: 18073507
42 IL12RB1 NM_005535.2(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 GRCh37 Chromosome 19, 18184317: 18184317
43 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic rs1554227230 GRCh37 Chromosome 6, 137527271: 137527271
44 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic rs1554227230 GRCh38 Chromosome 6, 137206134: 137206134
45 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh37 Chromosome 6, 137528200: 137528200
46 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 GRCh38 Chromosome 6, 137207063: 137207063
47 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh38 Chromosome 19, 18061194: 18061194
48 IL12RB1 NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=) single nucleotide variant Likely benign rs17885102 GRCh37 Chromosome 19, 18172004: 18172004
49 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh38 Chromosome 21, 33432210: 33432210
50 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 GRCh37 Chromosome 21, 34804517: 34804517

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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