IMD27A
MCID: IMM166
MIFTS: 38

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 56 73 71
Immunodeficiency 27a, Mycobacteriosis, Ar 56 29
Imd27a 56 73
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 58
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 58
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 1 Deficiency 58
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar1 Deficiency 58
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 58
Autosomal Recessive Msmd Due to Partial Ifngammar1 Deficiency 58
Msmd Due to Complete Interferon Gamma Receptor 1 Deficiency 58
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive 56
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis 73
Familial Disseminated Atypical Mycobacterial Infection 73
Mycobacterial Disease, Mendelian Susceptibility to 71
Immunodeficiency, Type 27a, Mycobacteriosis, Ar 39
Msmd Due to Complete Ifngammar1 Deficiency 58
Mycobacterium Infections, Nontuberculous 43
Ifngr1 Deficiency, Autosomal Recessive 56
Autosomal Recessive Ifngr1 Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
immunodeficiency 27a:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 209950
OMIM Phenotypic Series 56 PS300755
MeSH 43 D009165
MESH via Orphanet 44 C535530
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C2930924
UMLS 71 C4011949 C4048456

Summaries for Immunodeficiency 27a

OMIM : 56 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 : 73 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 11.7
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

Symptoms & Phenotypes for Immunodeficiency 27a

Human phenotypes related to Immunodeficiency 27a:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 fever 31 HP:0001945
3 anemia 31 HP:0001903
4 weight loss 31 HP:0001824
5 pulmonary infiltrates 31 HP:0002113
6 anorexia 31 HP:0002039
7 thrombocytosis 31 HP:0001894
8 leukocytosis 31 HP:0001974
9 diarrhea 31 HP:0002014
10 pneumonia 31 HP:0002090
11 lymphadenopathy 31 HP:0002716
12 hepatosplenomegaly 31 HP:0001433
13 histiocytosis 31 HP:0100727
14 elevated erythrocyte sedimentation rate 31 HP:0003565
15 hypoalbuminemia 31 HP:0003073
16 night sweats 31 HP:0030166
17 rheumatoid factor positive 31 HP:0002923
18 enlarged mesenteric lymph node 31 HP:0025043
19 abnormality of abdomen morphology 31 HP:0001438
20 increased circulating igg level 31 HP:0003237
21 increased circulating igm level 31 HP:0003496
22 salmonella osteomyelitis 31 HP:0005661
23 hypoplasia of the femoral head 31 HP:0008802
24 abnormal bronchus physiology 31 HP:0025427

Symptoms via clinical synopsis from OMIM:

56
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

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

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

Interventional clinical trials:

(show all 27)
# 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 Treatment of Non-Tuberculous Mycobacterial Infections With Interferon Gamma Completed NCT00001318 Phase 2 interferon gamma
6 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
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 A Proof of Concept Study of Inhaled Nitric Oxide for Adults With Pulmonary Non-Tuberculous Mycobacterial Infection Enrolling by invitation NCT03748992 Phase 2 gNO
12 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
13 Recombinant Interleukin-7 (CYT107) to Treat Patients With Refractory Nontuberculous Mycobacterial Lung Disease. Two Doses Phase II, Single Center, Open-label Trial Not yet recruiting NCT04154826 Phase 2 Recombinant human interleukin-7
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 Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study Completed NCT02832843
17 Diagnostic Accuracy and Inter-rater Agreement of Chest Computed Tomography in the Diagnosis of Nontuberculous Mycobacterial Lung Disease Completed NCT02340897
18 Multicenter Study of Nontuberculous Mycobacteria in Cystic Fibrosis Patients Completed NCT00004296
19 Pharmacokinetics and Pharmacodynamics of Drugs for Nontuberculous Mycobacterial Diseases in Dutch Patients Completed NCT01051752
20 Special Investigation of Clarith/Klaricid in Patients With Non-tuberculous Mycobacterial Pulmonary Infections Completed NCT01097005
21 Treatment Outcomes in Patient With Nontuberculous Mycobacterial Disease in the University of Illinois Hospital & Health Sciences System Completed NCT01680822
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 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

Genetic Tests for Immunodeficiency 27a

Genetic tests related to Immunodeficiency 27a:

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

Anatomical Context for Immunodeficiency 27a

MalaCards organs/tissues related to Immunodeficiency 27a:

40
Lung, Lymph Node, Monocytes, Spleen

Publications for Immunodeficiency 27a

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. 56 6
8960473 1996
2
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. 56 6
8960475 1996
3
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. 61 56
8592339 1995
4
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? 61 56
7815885 1995
5
Mendelian susceptibility to mycobacterial disease. 56
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. 6
19880857 2010
7
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 56
19084105 2008
8
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 56
15589309 2004
9
Impairment of IL-12-dependent STAT4 nuclear translocation in a patient with recurrent Mycobacterium avium infection. 56
15004198 2004
10
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. 56
11335769 2001
11
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. 6
10811850 2000
12
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. 6
9497247 1998
13
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 6
9389728 1997
14
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. 6
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. 56
7910002 1993
16
Visceral leishmaniasis in congenic mice of susceptible and resistant phenotypes: immunosuppression by adherent spleen cells. 56
2931376 1985
17
Genetic control of resistance to Mycobacterium intracellulare infection in mice. 56
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. 56
6315821 1983
19
Inbred mouse strain resistance to Mycobacterium lepraemurium follows the Ity/Lsh pattern. 56
6749659 1982
20
Genetic regulation of resistance to intracellular pathogens. 56
7045675 1982
21
Are the Lsh and Ity disease resistance genes at one locus on mouse chromosome 1? 56
7045676 1982
22
Possible monocyte killing defect in familial atypical mycobacteriosis. 56
7229761 1981
23
Defective monocyte functions in a child with fatal disseminated BCG infection. 56
6996876 1980
24
Familial disseminated atypical mycobacterial infection in childhood. 61
7715325 1995

Variations for Immunodeficiency 27a

ClinVar genetic disease variations for Immunodeficiency 27a:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFNGR1 NM_000416.2(IFNGR1):c.523del (p.Tyr175fs)deletion Pathogenic 208588 rs749956849 6:137525492-137525492 6:137204355-137204355
2 IFNGR1 NM_001363526.1(IFNGR1):c.416C>A (p.Ser139Ter)SNV Pathogenic 17942 rs387906572 6:137525569-137525569 6:137204432-137204432
3 IFNGR1 NM_000416.2(IFNGR1):c.131del (p.Pro44fs)deletion Pathogenic 17943 rs587776853 6:137528169-137528169 6:137207032-137207032
4 IFNGR1 NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr)SNV Pathogenic 17944 rs104893973 6:137527386-137527386 6:137206249-137206249
5 IFNGR1 NM_001363527.1(IFNGR1):c.-20_-17dupduplication Pathogenic 17945 rs587776854 6:137528192-137528193 6:137207055-137207056
6 IFNGR1 NM_000416.2(IFNGR1):c.200+1G>ASNV Pathogenic 17946 rs587776855 6:137528099-137528099 6:137206962-137206962
7 IFNGR1 NM_000416.2(IFNGR1):c.295_306del (p.Trp99_Val102del)deletion Pathogenic 17948 rs587776857 6:137527340-137527351 6:137206203-137206214
8 IFNGR1 NM_000416.2(IFNGR1):c.230G>A (p.Cys77Tyr)SNV Pathogenic 17949 rs104893974 6:137527416-137527416 6:137206279-137206279
9 IFNGR1 NM_000416.2(IFNGR1):c.182T>A (p.Val61Glu)SNV Pathogenic 17950 rs121912715 6:137528118-137528118 6:137206981-137206981
10 IFNGR1 NM_000416.2(IFNGR1):c.2T>A (p.Met1Lys)SNV Pathogenic 29607 rs387906593 6:137540463-137540463 6:137219326-137219326
11 IFNGR1 NM_000416.2(IFNGR1):c.641_644delinsCC (p.Cys214fs)indel Pathogenic 652535 6:137524725-137524728 6:137203588-137203591
12 IFNGR1 NM_000416.3(IFNGR1):c.86-1_93deldeletion Pathogenic 802277 6:137528207-137528215 6:137207070-137207078
13 IFNGR1 NM_000416.2(IFNGR1):c.733+1G>TSNV Likely pathogenic 664467 6:137524635-137524635 6:137203498-137203498
14 IFNGR1 NM_000416.3(IFNGR1):c.547-42A>TSNV Likely pathogenic 802275 6:137524864-137524864 6:137203727-137203727
15 IFNGR1 NM_000416.2(IFNGR1):c.373+2T>CSNV Likely pathogenic 462774 rs1554227230 6:137527271-137527271 6:137206134-137206134
16 IL12RB1 NM_005535.3(IL12RB1):c.783+10C>TSNV Conflicting interpretations of pathogenicity 328591 rs79972275 19:18184317-18184317 19:18073507-18073507
17 IFNGR1 NM_000416.2(IFNGR1):c.100A>G (p.Asn34Asp)SNV Uncertain significance 462773 rs555180897 6:137528200-137528200 6:137207063-137207063
18 IFNGR1 NM_000416.2(IFNGR1):c.1027G>A (p.Val343Met)SNV Uncertain significance 111207 rs121913185 6:137519611-137519611 6:137198474-137198474
19 IFNGR1 NM_000416.2(IFNGR1):c.84A>G (p.Ser28=)SNV Uncertain significance 355563 rs201996266 6:137540381-137540381 6:137219244-137219244
20 IFNGR1 NM_000416.2(IFNGR1):c.653_655del (p.Glu218del)deletion Uncertain significance 17951 rs587776858 6:137524714-137524716 6:137203577-137203579
21 IFNGR1 NM_000416.2(IFNGR1):c.589G>A (p.Glu197Lys)SNV Uncertain significance 642105 6:137524780-137524780 6:137203643-137203643
22 IFNGR1 NM_000416.2(IFNGR1):c.566C>A (p.Thr189Lys)SNV Uncertain significance 644527 6:137524803-137524803 6:137203666-137203666
23 IFNGR1 NM_000416.2(IFNGR1):c.547A>G (p.Ile183Val)SNV Uncertain significance 639650 6:137524822-137524822 6:137203685-137203685
24 IFNGR1 NM_000416.2(IFNGR1):c.380T>C (p.Ile127Thr)SNV Uncertain significance 639444 6:137525635-137525635 6:137204498-137204498
25 IFNGR1 NM_000416.2(IFNGR1):c.297G>T (p.Trp99Cys)SNV Uncertain significance 641874 6:137527349-137527349 6:137206212-137206212
26 IFNGR1 NM_000416.2(IFNGR1):c.286A>G (p.Asn96Asp)SNV Uncertain significance 649589 6:137527360-137527360 6:137206223-137206223
27 IFNGR1 NM_000416.2(IFNGR1):c.111T>G (p.Ile37Met)SNV Uncertain significance 641232 6:137528189-137528189 6:137207052-137207052
28 IFNGR1 NM_000416.2(IFNGR1):c.77C>T (p.Pro26Leu)SNV Uncertain significance 652671 6:137540388-137540388 6:137219251-137219251
29 IFNGR1 NM_000416.2(IFNGR1):c.871G>T (p.Val291Leu)SNV Uncertain significance 531668 rs1554226264 6:137519767-137519767 6:137198630-137198630
30 IFNGR1 NM_000416.2(IFNGR1):c.1342G>T (p.Val448Leu)SNV Uncertain significance 531669 rs146424575 6:137519296-137519296 6:137198159-137198159
31 IFNGR1 NM_000416.2(IFNGR1):c.1160C>T (p.Ser387Phe)SNV Uncertain significance 569641 rs1562282319 6:137519478-137519478 6:137198341-137198341
32 IFNGR1 NM_000416.2(IFNGR1):c.694A>G (p.Lys232Glu)SNV Uncertain significance 579786 rs200848254 6:137524675-137524675 6:137203538-137203538
33 IFNGR1 NM_000416.2(IFNGR1):c.236A>G (p.Asn79Ser)SNV Uncertain significance 569230 rs377227464 6:137527410-137527410 6:137206273-137206273
34 IFNGR1 NM_000416.2(IFNGR1):c.1448A>G (p.Glu483Gly)SNV Uncertain significance 582212 rs1341362925 6:137519190-137519190 6:137198053-137198053
35 IFNGR1 NM_000416.2(IFNGR1):c.665A>G (p.His222Arg)SNV Uncertain significance 625961 rs768805562 6:137524704-137524704 6:137203567-137203567
36 IFNGR1 NM_000416.2(IFNGR1):c.655G>A (p.Gly219Arg)SNV Uncertain significance 632475 rs1311661488 6:137524714-137524714 6:137203577-137203577
37 IFNGR1 NM_000416.2(IFNGR1):c.1056A>G (p.Ile352Met)SNV Uncertain significance 658801 6:137519582-137519582 6:137198445-137198445
38 IFNGR1 NM_000416.2(IFNGR1):c.979T>A (p.Ser327Thr)SNV Uncertain significance 659633 6:137519659-137519659 6:137198522-137198522
39 IFNGR1 NM_000416.2(IFNGR1):c.866C>G (p.Ser289Cys)SNV Uncertain significance 640371 6:137519772-137519772 6:137198635-137198635
40 IFNGR1 NM_000416.2(IFNGR1):c.664C>T (p.His222Tyr)SNV Uncertain significance 661761 6:137524705-137524705 6:137203568-137203568
41 IFNGR1 NM_000416.3(IFNGR1):c.547-48_547-45deldeletion Uncertain significance 802276 6:137524867-137524870 6:137203730-137203733
42 IFNGR1 NM_000416.2(IFNGR1):c.427A>T (p.Ile143Phe)SNV Uncertain significance 531670 rs1360211518 6:137525588-137525588 6:137204451-137204451
43 IFNGR1 NM_000416.2(IFNGR1):c.1236T>C (p.Phe412=)SNV Likely benign 531674 rs144715018 6:137519402-137519402 6:137198265-137198265
44 IFNGR2 NM_005534.3(IFNGR2):c.595T>C (p.Leu199=)SNV Likely benign 522180 rs149173957 21:34804517-34804517 21:33432210-33432210
45 IL12RB1 NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=)SNV Benign/Likely benign 522257 rs17885102 19:18172004-18172004 19:18061194-18061194
46 IL12RB1 NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)SNV Benign/Likely benign 328598 rs11575926 19:18188408-18188408 19:18077598-18077598
47 IL12RB1 NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)SNV Benign/Likely benign 328597 rs11575934 19:18186618-18186618 19:18075808-18075808
48 IFNGR2 NM_005534.3(IFNGR2):c.466A>C (p.Ile156Leu)SNV Benign/Likely benign 111246 rs121913208 21:34799244-34799244 21:33426937-33426937

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

73
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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53 NINDS
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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