Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
IMD27A
MCID: IMM166
MIFTS: 39

Immunodeficiency 27a (IMD27A)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Immunodeficiency 27a

About this section

MalaCards integrated aliases for Immunodeficiency 27a:

Name: Immunodeficiency 27a 57 74 72
Immunodeficiency 27a, Mycobacteriosis, Ar 57 29
Imd27a 57 74
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 74
Familial Disseminated Atypical Mycobacterial Infection 74
Mycobacterial Disease, Mendelian Susceptibility to 72
Immunodeficiency, Type 27a, Mycobacteriosis, Ar 40
Msmd Due to Complete Ifngammar1 Deficiency 59
Mycobacterium Infections, Nontuberculous 44
Ifngr1 Deficiency, Autosomal Recessive 57
Autosomal Recessive Ifngr1 Deficiency 74

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


External Ids:

MeSH 44 D009165
MESH via Orphanet 45 C535530
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 73 C2930924
UMLS 72 C4011949 C4048456
Sources

Summaries for Immunodeficiency 27a

About this section
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 immunodeficiency 27a, mycobacteriosis, ar, is related to immunodeficiency 34 and immunodeficiency 28. An important gene associated with Immunodeficiency 27a is IFNGR1 (Interferon Gamma Receptor 1). The drugs Mupirocin and Gentamicins have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and monocytes, and related phenotypes are splenomegaly and fever

UniProtKB/Swiss-Prot : 74 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.

Sources

Related Diseases for Immunodeficiency 27a

About this section

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 34 11.7
2 immunodeficiency 28 11.3
3 immunodeficiency 27b 11.3
4 immune deficiency disease 10.0
5 mycobacterium fortuitum 10.0

Graphical network of the top 20 diseases related to Immunodeficiency 27a:



Diseases related to Immunodeficiency 27a
Sources

Symptoms & Phenotypes for Immunodeficiency 27a

About this section

Human phenotypes related to Immunodeficiency 27a:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 fever 32 HP:0001945
3 anemia 32 HP:0001903
4 weight loss 32 HP:0001824
5 pulmonary infiltrates 32 HP:0002113
6 anorexia 32 HP:0002039
7 thrombocytosis 32 HP:0001894
8 leukocytosis 32 HP:0001974
9 diarrhea 32 HP:0002014
10 pneumonia 32 HP:0002090
11 lymphadenopathy 32 HP:0002716
12 hepatosplenomegaly 32 HP:0001433
13 histiocytosis 32 HP:0100727
14 elevated erythrocyte sedimentation rate 32 HP:0003565
15 hypoalbuminemia 32 HP:0003073
16 night sweats 32 HP:0030166
17 rheumatoid factor positive 32 HP:0002923
18 abnormality of abdomen morphology 32 HP:0001438
19 increased circulating igg level 32 HP:0003237
20 increased circulating igm level 32 HP:0003496
21 salmonella osteomyelitis 32 HP:0005661
22 hypoplasia of the femoral head 32 HP:0008802
23 enlarged mesenteric lymph node 32 HP:0025043
24 abnormal bronchus physiology 32 HP:0025427

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
Sources

Drugs & Therapeutics for Immunodeficiency 27a

About this section

Drugs for Immunodeficiency 27a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
2 Gentamicins Phase 4
3
Clarithromycin Approved Phase 3 81103-11-9 84029
4
Ethambutol Approved Phase 2, Phase 3 74-55-5 3279 14052
5
Rifampicin Approved Phase 2, Phase 3 13292-46-1 5381226 5458213
6
Azithromycin Approved Phase 2, Phase 3 83905-01-5 447043 55185
7
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
8
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
9
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
10
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
11
Polyestradiol phosphate Approved Phase 3 28014-46-2
12
Amikacin Approved, Investigational, Vet_approved Phase 3 37517-28-5 37768
13 Anti-Bacterial Agents Phase 3
14 Anti-Infective Agents Phase 3
15 Antibiotics, Antitubercular Phase 2, Phase 3
16 Cytochrome P-450 CYP3A Inhibitors Phase 3
17 Cytochrome P-450 Enzyme Inhibitors Phase 3
18 Cytochrome P-450 CYP3A Inducers Phase 2, Phase 3
19 Cytochrome P-450 Enzyme Inducers Phase 2, Phase 3
20 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
21 Antitubercular Agents Phase 2, Phase 3
22 Contraceptives, Oral Phase 3
23 Contraceptive Agents Phase 3
24 Contraceptives, Oral, Combined Phase 3
25 Norgestimate, ethinyl estradiol drug combination Phase 3
26 Topoisomerase Inhibitors Phase 3
27 Estradiol 3-benzoate Phase 3
28 Estradiol 17 beta-cypionate Phase 3
29
Nitric Oxide Approved Phase 2 10102-43-9 145068
30 Molgramostim Investigational Phase 2 99283-10-0
31 Adjuvants, Immunologic Phase 2
32 interferons Phase 2
33 Antiviral Agents Phase 2
34 Interferon-gamma Phase 2
35 Pharmaceutical Solutions Phase 2
36 Neurotransmitter Agents Phase 2
37 Free Radical Scavengers Phase 2
38 Respiratory System Agents Phase 2
39 Antioxidants Phase 2
40 Protective Agents Phase 2
41 Anti-Asthmatic Agents Phase 2
42 Autonomic Agents Phase 2
43 Endothelium-Dependent Relaxing Factors Phase 2
44 Vasodilator Agents Phase 2
45 Peripheral Nervous System Agents Phase 2
46 Bronchodilator Agents Phase 2
47 Angiogenesis Inhibitors Phase 1
48 Angiogenesis Modulating Agents Phase 1
49 Immunologic Factors Phase 1
50 Interleukin-12 Phase 1

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Prospective, Randomized, Open-Label Study of Topical Antibiotic Prophylaxis at the Catheter Exit Site: Continuous Daily Gentamicin Cream Versus Cyclical Gentamicin Cream and Mupirocin 2% Cream Alternating at Monthly Basis. Unknown status NCT00751374 Phase 4 gentamicin;gentamicin cream alternating with mupirocin cream
2 Comparison of Two- Versus Three-antibiotic Therapy for Pulmonary Mycobacterium Avium Complex Disease Recruiting NCT03672630 Phase 2, Phase 3 Azithromycin;Ethambutol;Rifampin
3 Efficacy of Clarithromycin or Moxifloxacin Containing Regimen in 6 Months Sputum Conversion of Mycobacterium Xenopi Recruiting NCT01298336 Phase 3 Clarithromycin;Moxifloxacin
4 A Randomized, Open-label, Multicenter Study of Liposomal Amikacin for Inhalation (LAI) in Adult Patients With Nontuberculous Mycobacterial (NTM) Lung Infection Caused by Mycobacterium Avium Complex (MAC) That Are Refractory to Treatment Active, not recruiting NCT02344004 Phase 3 LAI (Liposomal Amikacin for Inhalation) 590 mg
5 A Prospective, Open Labeled, Multi-Center, Evaluation of the Efficacy Safety and Tolerability of Nitric Oxide Given Intermittently Via Inhalation to Subjects With NTM (Specifically MABSC) Completed NCT03208764 Phase 2 Nitric Oxide
6 Treatment of Non-Tuberculous Mycobacterial Infections With Interferon Gamma Completed NCT00001318 Phase 2 interferon gamma
7 A Randomized, Double-Blind, Placebo-Controlled Study of Liposomal Amikacin for Inhalation in Patients With Recalcitrant Nontuberculous Mycobacterial Lung Disease Completed NCT01315236 Phase 2 Liposomal amikacin for inhalation (LAI);placebo
8 An Open-label, Non-controlled, Multicenter, Pilot Trial, Using Inhaled Molgramostim in Cystic Fibrosis Subjects With Nontuberculous Mycobacterial (NTM) Infection Recruiting NCT03597347 Phase 2 Molgramostim nebulizer solution
9 An Open-label Study of Efficacy, Safety and Tolerability of Liposomal Amikacin for Inhalation (LAI) Once Daily in Addition to Standard Multi-antibiotic Therapy in the Treatment of Mycobacterium Abscessus Lung Disease Active, not recruiting NCT03038178 Phase 2 LAI plus multi-drug regimen
10 An Open-label, Non-controlled, Multicentre, Pilot Clinical Trial of Inhaled Molgramostim in Subjects With Antibiotic-resistant Non-tuberculosis Mycobacterial (NTM) Infection Active, not recruiting NCT03421743 Phase 2 Inhaled molgramostim
11 An Open Label Safety Study of Inhaled Gaseous Nitric Oxide (gNO) for Adults & Adolescents With Non-Tuberculous Mycobacteria Infection Active, not recruiting NCT03331445 Phase 2 Nitric Oxide 0.5 % / Nitrogen 99.5 % Gas for Inhalation
12 A Proof of Concept Study of Inhaled Nitric Oxide for Adults With Pulmonary Non-Tuberculous Mycobacterial Infection Enrolling by invitation NCT03748992 Phase 2 gNO
13 Open Label Prolonged-Use of Inhaled Gaseous Nitric Oxide (gNO) for a Single Adult With Non-Tuberculous Mycobacteria Infection Enrolling by invitation NCT03473314 Phase 2 Nitric Oxide gas at 160ppm
14 Interleukin-12 in the Treatment of Severe Nontuberculous Mycobacterial Infections Completed NCT00001911 Phase 1 Interleukin-12
15 A Multiple-Site, Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose (SAD) Study to Assess the Safety and Tolerability of Inhaled SNSP113 in Healthy Male Subjects (Part A) and Subjects With Stable Cystic Fibrosis (Part B) Terminated NCT03309358 Phase 1 Inhaled SNSP113;Inhaled Placebo
16 Diagnostic Accuracy and Inter-rater Agreement of Chest Computed Tomography in the Diagnosis of Nontuberculous Mycobacterial Lung Disease Completed NCT02340897
17 Special Investigation of Clarith/Klaricid in Patients With Non-tuberculous Mycobacterial Pulmonary Infections Completed NCT01097005
18 Pharmacokinetics and Pharmacodynamics of Drugs for Nontuberculous Mycobacterial Diseases in Dutch Patients Completed NCT01051752
19 Multicenter Study of Nontuberculous Mycobacteria in Cystic Fibrosis Patients Completed NCT00004296
20 Treatment Outcomes in Patient With Nontuberculous Mycobacterial Disease in the University of Illinois Hospital & Health Sciences System Completed NCT01680822
21 Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study Recruiting NCT02832843
22 Whole Genome Sequencing of Nontuberculous Mycobacterium (NTM) Derived From Sputum Specimen of NTM Lung Disease Patients Living Together and From Their Environmental Samples Recruiting NCT03532438
23 The Registry of Controls for Respiratory Diseases Recruiting NCT03120481
24 Healthcare-associated Links in Transmission of Nontuberculous Mycobacteria Among Patients With Cystic Fibrosis Recruiting NCT04024423
25 A Prospective Registry For Non Tuberculous Mycobacterial (NTM) Infections Recruiting NCT02355015
26 The Italian Registry of Pulmonary Non-tuberculous Mycobacteria Recruiting NCT03339063
27 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
28 Epidemiology and Clinical Characteristics of Non-Tuberculous Mycobacteria Infections in Cystic Fibrosis Patients. Not yet recruiting NCT03312075

Search NIH Clinical Center for Immunodeficiency 27a

Cochrane evidence based reviews: mycobacterium infections, nontuberculous

Sources

Genetic Tests for Immunodeficiency 27a

About this section

Genetic tests related to Immunodeficiency 27a:

# Genetic test Affiliating Genes
1 Immunodeficiency 27a, Mycobacteriosis, Ar 29
Sources

Anatomical Context for Immunodeficiency 27a

About this section

MalaCards organs/tissues related to Immunodeficiency 27a:

41
Lung, Lymph Node, Monocytes, Spleen
Sources

Publications for Immunodeficiency 27a

About this section

Articles related to Immunodeficiency 27a:

(show all 24)
# Title Authors PMID Year
1
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. 8 71
8960473 1996
2
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. 8 71
8960475 1996
3
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. 38 8
8592339 1995
4
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? 38 8
7815885 1995
5
Mendelian susceptibility to mycobacterial disease. 8
20718793 2011
6
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. 71
19880857 2010
7
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 8
19084105 2008
8
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 8
15589309 2004
9
Impairment of IL-12-dependent STAT4 nuclear translocation in a patient with recurrent Mycobacterium avium infection. 8
15004198 2004
10
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. 8
11335769 2001
11
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. 71
10811850 2000
12
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. 71
9497247 1998
13
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 71
9389728 1997
14
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. 71
9142806 1997
15
An RFLP map for 2q33-q37 from multicase mycobacterial and leishmanial disease families: no evidence for an Lsh/Ity/Bcg gene homologue influencing susceptibility to leprosy. 8
7910002 1993
16
Visceral leishmaniasis in congenic mice of susceptible and resistant phenotypes: immunosuppression by adherent spleen cells. 8
2931376 1985
17
Genetic control of resistance to Mycobacterium intracellulare infection in mice. 8
6480104 1984
18
Genetic control of the innate resistance of mice to Salmonella typhimurium: Ity gene is expressed in vivo by 24 hours after infection. 8
6315821 1983
19
Inbred mouse strain resistance to Mycobacterium lepraemurium follows the Ity/Lsh pattern. 8
6749659 1982
20
Genetic regulation of resistance to intracellular pathogens. 8
7045675 1982
21
Are the Lsh and Ity disease resistance genes at one locus on mouse chromosome 1? 8
7045676 1982
22
Possible monocyte killing defect in familial atypical mycobacteriosis. 8
7229761 1981
23
Defective monocyte functions in a child with fatal disseminated BCG infection. 8
6996876 1980
24
Familial disseminated atypical mycobacterial infection in childhood. 38
7715325 1995
Sources

Variations for Immunodeficiency 27a

About this section

ClinVar genetic disease variations for Immunodeficiency 27a:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFNGR1 NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter) single nucleotide variant Pathogenic rs387906572 6:137525569-137525569 6:137204432-137204432
2 IFNGR1 NM_000416.2(IFNGR1): c.131del (p.Pro44fs) deletion Pathogenic rs587776853 6:137528169-137528169 6:137207032-137207032
3 IFNGR1 NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr) single nucleotide variant Pathogenic rs104893973 6:137527386-137527386 6:137206249-137206249
4 IFNGR1 NM_000416.2(IFNGR1): c.104_107dup (p.Ile37fs) duplication Pathogenic rs587776854 6:137528193-137528196 6:137207056-137207059
5 IFNGR1 NM_000416.2(IFNGR1): c.200+1G> A single nucleotide variant Pathogenic rs587776855 6:137528099-137528099 6:137206962-137206962
6 IFNGR1 NM_000416.2(IFNGR1): c.295_306del (p.Trp99_Val102del) deletion Pathogenic rs587776857 6:137527340-137527351 6:137206203-137206214
7 IFNGR1 NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs104893974 6:137527416-137527416 6:137206279-137206279
8 IFNGR1 NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu) single nucleotide variant Pathogenic rs121912715 6:137528118-137528118 6:137206981-137206981
9 IFNGR1 NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906593 6:137540463-137540463 6:137219326-137219326
10 IFNGR1 NM_000416.2(IFNGR1): c.523del (p.Tyr175fs) deletion Pathogenic rs749956849 6:137525492-137525492 6:137204355-137204355
11 IFNGR1 NM_000416.2(IFNGR1): c.641_644delinsCC (p.Cys214fs) indel Pathogenic 6:137524725-137524728 6:137203588-137203591
12 IFNGR1 NM_000416.2(IFNGR1): c.373+2T> C single nucleotide variant Likely pathogenic rs1554227230 6:137527271-137527271 6:137206134-137206134
13 IFNGR1 NM_000416.2(IFNGR1): c.733+1G> T single nucleotide variant Likely pathogenic 6:137524635-137524635 6:137203498-137203498
14 IFNGR1 NM_000416.2(IFNGR1): c.48G> A (p.Arg16=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575931 6:137540417-137540417 6:137219280-137219280
15 IFNGR1 NM_000416.2(IFNGR1): c.42G> A (p.Val14=) single nucleotide variant Conflicting interpretations of pathogenicity rs17181471 6:137540423-137540423 6:137219286-137219286
16 IL12RB1 NM_005535.3(IL12RB1): c.783+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79972275 19:18184317-18184317 19:18073507-18073507
17 IFNGR1 NM_000416.2(IFNGR1): c.77C> T (p.Pro26Leu) single nucleotide variant Uncertain significance 6:137540388-137540388 6:137219251-137219251
18 IFNGR1 NM_000416.2(IFNGR1): c.111T> G (p.Ile37Met) single nucleotide variant Uncertain significance 6:137528189-137528189 6:137207052-137207052
19 IFNGR1 NM_000416.2(IFNGR1): c.286A> G (p.Asn96Asp) single nucleotide variant Uncertain significance 6:137527360-137527360 6:137206223-137206223
20 IFNGR1 NM_000416.2(IFNGR1): c.297G> T (p.Trp99Cys) single nucleotide variant Uncertain significance 6:137527349-137527349 6:137206212-137206212
21 IFNGR1 NM_000416.2(IFNGR1): c.380T> C (p.Ile127Thr) single nucleotide variant Uncertain significance 6:137525635-137525635 6:137204498-137204498
22 IFNGR1 NM_000416.2(IFNGR1): c.547A> G (p.Ile183Val) single nucleotide variant Uncertain significance 6:137524822-137524822 6:137203685-137203685
23 IFNGR1 NM_000416.2(IFNGR1): c.566C> A (p.Thr189Lys) single nucleotide variant Uncertain significance 6:137524803-137524803 6:137203666-137203666
24 IFNGR1 NM_000416.2(IFNGR1): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance 6:137524780-137524780 6:137203643-137203643
25 IFNGR1 NM_000416.2(IFNGR1): c.664C> T (p.His222Tyr) single nucleotide variant Uncertain significance 6:137524705-137524705 6:137203568-137203568
26 IFNGR1 NM_000416.2(IFNGR1): c.866C> G (p.Ser289Cys) single nucleotide variant Uncertain significance 6:137519772-137519772 6:137198635-137198635
27 IFNGR1 NM_000416.2(IFNGR1): c.979T> A (p.Ser327Thr) single nucleotide variant Uncertain significance 6:137519659-137519659 6:137198522-137198522
28 IFNGR1 NM_000416.2(IFNGR1): c.1056A> G (p.Ile352Met) single nucleotide variant Uncertain significance 6:137519582-137519582 6:137198445-137198445
29 IFNGR1 NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe) single nucleotide variant Uncertain significance rs1360211518 6:137525588-137525588 6:137204451-137204451
30 IFNGR1 NM_000416.2(IFNGR1): c.1342G> T (p.Val448Leu) single nucleotide variant Uncertain significance rs146424575 6:137519296-137519296 6:137198159-137198159
31 IFNGR1 NM_000416.2(IFNGR1): c.653_655del (p.Glu218del) deletion Uncertain significance rs587776858 6:137524714-137524716 6:137203577-137203579
32 IFNGR1 NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance rs555180897 6:137528200-137528200 6:137207063-137207063
33 IFNGR1 NM_000416.2(IFNGR1): c.665A> G (p.His222Arg) single nucleotide variant Uncertain significance 6:137524704-137524704 6:137203567-137203567
34 IFNGR1 NM_000416.2(IFNGR1): c.1160C> T (p.Ser387Phe) single nucleotide variant Uncertain significance 6:137519478-137519478 6:137198341-137198341
35 IFNGR1 NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu) single nucleotide variant Uncertain significance rs1554226264 6:137519767-137519767 6:137198630-137198630
36 IFNGR1 NM_000416.2(IFNGR1): c.84A> G (p.Ser28=) single nucleotide variant Uncertain significance rs201996266 6:137540381-137540381 6:137219244-137219244
37 IFNGR1 NM_000416.2(IFNGR1): c.1027G> A (p.Val343Met) single nucleotide variant Uncertain significance rs121913185 6:137519611-137519611 6:137198474-137198474
38 IFNGR1 NM_000416.2(IFNGR1): c.694A> G (p.Lys232Glu) single nucleotide variant Uncertain significance 6:137524675-137524675 6:137203538-137203538
39 IFNGR1 NM_000416.2(IFNGR1): c.236A> G (p.Asn79Ser) single nucleotide variant Uncertain significance 6:137527410-137527410 6:137206273-137206273
40 IFNGR1 NM_000416.2(IFNGR1): c.1448A> G (p.Glu483Gly) single nucleotide variant Uncertain significance 6:137519190-137519190 6:137198053-137198053
41 IFNGR1 NM_000416.2(IFNGR1): c.655G> A (p.Gly219Arg) single nucleotide variant Uncertain significance 6:137524714-137524714 6:137203577-137203577
42 IFNGR1 NM_000416.2(IFNGR1): c.1204_1230dup (p.Cys402_Asn410dup) duplication Likely benign rs137854905 6:137519408-137519434 6:137198271-137198297
43 IFNGR2 NM_005534.3(IFNGR2): c.466A> C (p.Ile156Leu) single nucleotide variant Likely benign rs121913208 21:34799244-34799244 21:33426937-33426937
44 IFNGR1 NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=) single nucleotide variant Likely benign rs144715018 6:137519402-137519402 6:137198265-137198265
45 IFNGR1 NM_000416.2(IFNGR1): c.201-12_201-9delTATT deletion Likely benign rs766023933 6:137527454-137527457 6:137206317-137206320
46 IL12RB1 NM_005535.3(IL12RB1): c.1719C> T (p.Ala573=) single nucleotide variant Likely benign rs17885102 19:18172004-18172004 19:18061194-18061194
47 IFNGR2 NM_005534.3(IFNGR2): c.595T> C (p.Leu199=) single nucleotide variant Likely benign rs149173957 21:34804517-34804517 21:33432210-33432210
48 IFNGR1 NM_000416.2(IFNGR1): c.489C> T (p.Pro163=) single nucleotide variant Benign/Likely benign rs41288981 6:137525526-137525526 6:137204389-137204389
49 IFNGR1 NM_000416.2(IFNGR1): c.1004A> C (p.His335Pro) single nucleotide variant Benign/Likely benign rs17175350 6:137519634-137519634 6:137198497-137198497
50 IL12RB1 NM_005535.3(IL12RB1): c.467G> A (p.Arg156His) single nucleotide variant Benign/Likely benign rs11575926 19:18188408-18188408 19:18077598-18077598

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

74
# 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

Sources

Expression for Immunodeficiency 27a

About this section
Search GEO for disease gene expression data for Immunodeficiency 27a.
Sources

Pathways for Immunodeficiency 27a

About this section
Sources

GO Terms for Immunodeficiency 27a

About this section
Sources

Sources for Immunodeficiency 27a

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....