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IMD27A
MCID: IMM166
MIFTS: 60

Immunodeficiency 27a (IMD27A)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Immunodeficiency 27a

About this section

MalaCards integrated aliases for Immunodeficiency 27a:

Name: Immunodeficiency 27a 57 12 73 15 71
Imd27a 57 12 73
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 12 58
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 12 58
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 12 58
Autosomal Recessive Msmd Due to Partial Ifngammar1 Deficiency 12 58
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive 57 6
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis 12 73
Immunodeficiency 27a, Mycobacteriosis, Ar 57 29
Autosomal Recessive Ifngr1 Deficiency 12 73
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
Msmd Due to Complete Interferon Gamma Receptor 1 Deficiency 58
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
Interferon Gamma, Receptor 1, Deficiency 44
Ifngr1 Deficiency, Autosomal Recessive 57
Mycobacterium Infections 44
Mycobacterium Infection 17

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®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111955
OMIM® 57 209950
OMIM Phenotypic Series 57 PS300755
MESH via Orphanet 45 C535530
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C2930924
MedGen 41 C4011949
UMLS 71 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. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). 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) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 27a, also known as imd27a, is related to interferon gamma, receptor 1, deficiency and immunodeficiency 28. An important gene associated with Immunodeficiency 27a is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. The drugs Mupirocin and Rifabutin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and lung, and related phenotypes are splenomegaly and fever

Disease Ontology : 12 A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has material basis in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3.

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.

Sources

Related Diseases for Immunodeficiency 27a

About this section

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 interferon gamma, receptor 1, deficiency 32.7 IFNGR1 IFNG
2 immunodeficiency 28 31.6 IFNGR2 IFNGR1
3 immunodeficiency 27b 30.7 STAT1 JAK1 IFNGR2 IFNGR1
4 atypical mycobacteriosis, familial 30.7 IFNGR1 BCLAF1
5 osteomyelitis 30.2 STAT1 IFNGR1 IFNG
6 coccidioidomycosis 30.2 STAT1 IFNGR1
7 histoplasmosis 30.0 STAT1 IFNG
8 mycobacterium tuberculosis 1 29.8 STAT1 IFNGR1 IFNG
9 exanthem 29.8 IFNG IFNA1
10 chickenpox 29.4 STAT1 IFNG IFNA1
11 lymphadenitis 29.4 IFNGR1 IFNG
12 influenza 29.3 STAT1 IFNG IFNA1
13 immune deficiency disease 29.2 STAT1 IFNGR1 IFNG IFNA1
14 disease by infectious agent 29.2 IFNGR1 IFNG IFNA1
15 immunodeficiency 34 11.5
16 immunodeficiency 69 10.9
17 meningoencephalitis 10.2
18 mycobacterium fortuitum 10.2
19 axillary adenitis 10.2 IFNGR2 IFNGR1
20 beta-lactam allergy 10.1 IFNGR2 IFNGR1
21 miliary tuberculosis 10.1 IFNGR1 IFNG
22 paratyphoid fever 10.1 IFNGR1 IFNG
23 typhoid fever 10.1 IFNGR1 IFNG
24 eczema herpeticum 10.1 IFNGR1 IFNG
25 opportunistic bacterial infectious disease 10.1 IFNGR2 IFNG
26 nocardiosis 10.1 IFNGR2 IFNG
27 lymphoma, hodgkin, classic 10.1
28 chronic recurrent multifocal osteomyelitis 10.1
29 lymphoma, non-hodgkin, familial 10.1
30 portal hypertension 10.1
31 liver cirrhosis 10.1
32 bronchitis 10.1
33 b-cell lymphoma 10.1
34 herpes simplex 10.1
35 encephalitis 10.1
36 mycobacterium abscessus 10.1
37 b-cell non-hodgkin lymphoma 10.1
38 lepromatous leprosy 10.1 IFNGR1 IFNG
39 extrapulmonary tuberculosis 10.1 IFNGR1 IFNG
40 mycobacterium kansasii 10.0
41 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
42 immunodeficiency 21 10.0 STAT1 IFNGR2
43 human t-cell leukemia virus type 2 10.0 STAT1 IFNG
44 campylobacteriosis 10.0 STAT1 IFNG
45 sting-associated vasculopathy with onset in infancy 10.0 STAT1 JAK1
46 primary systemic mycosis 10.0 STAT1 IFNG
47 bacterial infectious disease 9.9
48 pulmonary tuberculosis 9.9
49 hansen's disease 9.9
50 mycobacterium marinum 9.9

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to salmonella infections
poor or absent response to gamma-interferon

Clinical features from OMIM®:

209950 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Immunodeficiency 27a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 BCLAF1 IFNG IFNGR1 IFNGR2 JAK1 STAT1
2 immune system MP:0005387 9.1 BCLAF1 IFNG IFNGR1 IFNGR2 JAK1 STAT1
Sources

Drugs & Therapeutics for Immunodeficiency 27a

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

(show top 50) (show all 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
2
Rifabutin Approved, Investigational Phase 4 72559-06-9 6323490 46783538
3
Clarithromycin Approved Phase 4 81103-11-9 84029
4
Azithromycin Approved Phase 4 83905-01-5 55185 447043
5
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
6
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
7
Ofloxacin Approved Phase 4 82419-36-1 4583
8
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
9 Gentamicins Phase 4
10
Streptomycin Approved, Vet_approved Phase 2, Phase 3 57-92-1 19649
11
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
12
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
13
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
14
Ethambutol Approved Phase 3 74-55-5 3279 14052
15
Rifampicin Approved Phase 2, Phase 3 13292-46-1 5458213 5381226
16
Amikacin Approved, Investigational, Vet_approved Phase 3 37517-28-5 37768
17
Moxifloxacin Approved, Investigational Phase 2, Phase 3 151096-09-2, 354812-41-2 152946
18
Clofazimine Approved, Investigational Phase 2, Phase 3 2030-63-9 2794
19
Bedaquiline Approved Phase 3 843663-66-1
20
Sulfamethoxazole Approved Phase 2, Phase 3 723-46-6 5329
21
Cefotaxime Approved Phase 2, Phase 3 63527-52-6 456256 5742673
22
Doxycycline Approved, Investigational, Vet_approved Phase 2, Phase 3 564-25-0 54671203
23
Trimethoprim Approved, Vet_approved Phase 2, Phase 3 738-70-5 5578
24
Tigecycline Approved Phase 2, Phase 3 220620-09-7 5282044
25
Cefoxitin Approved Phase 2, Phase 3 35607-66-0 441199
26
Imipenem Approved Phase 2, Phase 3 64221-86-9, 74431-23-5 104838
27
BCG vaccine Approved, Investigational Phase 3
28
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
29 Antifungal Agents Phase 3
30 Hormone Antagonists Phase 3
31 Anti-Infective Agents Phase 3
32 Anti-Bacterial Agents Phase 3
33 Antibiotics, Antitubercular Phase 3
34 Cytochrome P-450 CYP3A Inhibitors Phase 3
35 Antitubercular Agents Phase 3
36 Cytochrome P-450 Enzyme Inhibitors Phase 3
37 Antiparasitic Agents Phase 2, Phase 3
38 Antiprotozoal Agents Phase 2, Phase 3
39 Norgestimate, ethinyl estradiol drug combination Phase 2, Phase 3
40 Anti-Inflammatory Agents Phase 2, Phase 3
41 Trimethoprim, Sulfamethoxazole Drug Combination Phase 2, Phase 3
42 Antimalarials Phase 2, Phase 3
43 Vaccines Phase 3
44 Vitamin B Complex Phase 3
45 Vitamin B2 Phase 3
46 Vitamins Phase 3
47 Fluoroquinolones Phase 3
48
Nitric Oxide Approved Phase 2 10102-43-9 145068
49
Rifapentine Approved, Investigational Phase 2 61379-65-5 6323497
50
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622

Interventional clinical trials:

(show top 50) (show all 130)
# 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 Open Study of Clarithromycin for the Treatment of Infections Caused by Nontuberculous Mycobacteria (NTM) Completed NCT00600769 Phase 4 Clarithromycin
3 An Open-Label Randomized Pharmacokinetic/Pharmacodynamic Study of Mycobutin (Rifabutin) or Rifabutin in Combination With Myambutol (Ethambutol) for Prophylaxis of Mycobacterium Avium Complex (MAC) Bacteremia in AIDS Patients With CD4 Counts <= 100 Cells/mm3 Completed NCT00002343 Phase 4 Ethambutol hydrochloride;Rifabutin
4 Efficacy and Tolerability of Linezolid for Treatment of Nontuberculous Mycobacterial Diseases Recruiting NCT03220074 Phase 4 Oral Tablet
5 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 Completed NCT02344004 Phase 3 LAI (Liposomal Amikacin for Inhalation) 590 mg
6 Efficacy of Clarithromycin or Moxifloxacin Containing Regimen in 6 Months Sputum Conversion of Mycobacterium Xenopi Completed NCT01298336 Phase 3 Clarithromycin;Moxifloxacin
7 Randomised Trial for Early Lesions Caused by M. Ulcerans - Comparison Between 8 Weeks Streptomycin and Rifampicin (SR), or 4 Weeks SR Followed by 4 Weeks R Plus Clarithromycin Completed NCT00321178 Phase 2, Phase 3 SR4 - switch to CR4
8 A Randomized, Double-Blind, Comparative Study of Azithromycin Versus Clarithromycin in Combination With Ethambutol for the Treatment of Disseminated Mycobacterium Avium Complex (MAC) Infection in AIDs Patients Completed NCT00002140 Phase 3 Ethambutol hydrochloride;Clarithromycin;Azithromycin
9 A Randomized Study of Daily and Intermittent Prophylactic Regimens for the Prevention of Disseminated Mycobacterium Avium Complex (MAC) and Fungal Infections in HIV-Infected Patients Completed NCT00002122 Phase 3 Azithromycin;Rifabutin;Fluconazole
10 A Three-Arm Comparative Trial for the Treatment of MAC Bacteremia in AIDS: A Clarithromycin/Ethambutol Regimen Containing Rifabutin (450 Mg) or Rifabutin (300 Mg) or Placebo Completed NCT00002101 Phase 3 Ethambutol hydrochloride;Clarithromycin;Rifabutin
11 An Open-Label, Randomized Trial of Four Treatment Regimens for Patients With Disseminated Mycobacterium Avium Complex Disease and Acquired Immunodeficiency Syndrome (AIDS) Completed NCT00001047 Phase 3 Ethambutol hydrochloride;Clarithromycin;Clofazimine;Rifabutin
12 A Prospective, Randomized, Comparative Study of the Safety and Efficacy of Clarithromycin Versus Rifabutin Versus the Combination of Clarithromycin Plus Rifabutin for the Prevention of Mycobacterium Avium Complex (MAC) Bacteremia or Disseminated MAC Disease in HIV-Infected Patients With CD4 Lymphocyte Counts <= 100 Cells/mm3 Completed NCT00001030 Phase 3 Clarithromycin;Rifabutin
13 Clinical Efficacy of Rifabutin in the Treatment of Serious and Life Threatening Infections Due to Mycobacterium Avium Complex, or Drug Resistant Mycobacterium Tuberculosis, or Other Drug Resistant Mycobacterium Completed NCT03164291 Phase 3 Rifabutin
14 ARISE - A Randomized, Double-Blind, Placebo-Controlled, Active Comparator, Multicenter Study to Validate Patient-Reported Outcome Instruments in Adult Subjects With Newly Diagnosed Nontuberculous Mycobacterial (NTM) Lung Infection Caused by Mycobacterium Avium Complex (MAC) Recruiting NCT04677543 Phase 3 ALIS;Azithromycin;Ethambutol;ELC
15 ENCORE - A Randomized, Double-Blind, Placebo-Controlled, Active Comparator, Multicenter Study to Evaluate the Efficacy and Safety of an Amikacin Liposome Inhalation Suspension (ALIS)-Based Regimen in Adult Subjects With Newly Diagnosed Nontuberculous Mycobacterial (NTM) Lung Infection Caused by Mycobacterium Avium Complex (MAC) Recruiting NCT04677569 Phase 3 ALIS;Azithromycin;Ethambutol;ELC (matching placebo for ALIS)
16 Comparison of Two- Versus Three-antibiotic Therapy for Pulmonary Mycobacterium Avium Complex Disease Recruiting NCT03672630 Phase 2, Phase 3 Azithromycin;Ethambutol;Rifampin
17 A Randomized, Double-blind, Two Arm, Placebo Controlled Clinical Trial to Evaluate the Efficacy and Safety of Mycobacterium w in Preventing COVID-19 in Subjects at Risk of Getting Infected With COVID-19. Recruiting NCT04353518 Phase 3 Suspension of heat killed (autoclaved) Mycobacterium w
18 A Phase 2/3, Multicenter, Randomized, Open-label, Active-controlled Study to Evaluate the Efficacy and Safety of Bedaquiline Administered as Part of a Treatment Regimen With Clarithromycin and Ethambutol in Adult Patients With Treatment-refractory Mycobacterium Avium Complex-lung Disease (MAC-LD) Recruiting NCT04630145 Phase 3 Bedaquiline;Clarithromycin;Ethambutol;Rifampicin;Rifabutin
19 Finding the Optimal Regimen for Mycobacterium Abscessus Treatment (FORMaT) Recruiting NCT04310930 Phase 2, Phase 3 Amikacin;Tigecycline;Imipenem;Cefoxitin;Azithromycin;Clarithromycin;Clofazimine;Ethambutol;Amikacin;Linezolid;co-trimoxazole;Doxycycline;Moxifloxacin;Bedaquiline;Rifabutin
20 A Randomized, Double-blind, Two Arm, Controlled Clinical Trial to Compare the Efficacy and Safety of Mycobacterium w (Mw) Administered Along With Standard of Care Versus Placebo Administered Along With Standard of Care, in Adult, COVID 19 Positive Patients Hospitalized But Not Critically Ill. Recruiting NCT04358809 Phase 3 Suspension of heat killed (autoclaved) Mycobacterium w
21 A Multicenter, Phase III, Double-blind, Randomized, Active-controlled Study to Evaluate the Efficacy and Safety of VPM1002 in Comparison to BCG in Prevention of Mycobacterium Tuberculosis Infection in Newborn Infants Recruiting NCT04351685 Phase 3
22 Study of RHB-204 for the Treatment of Pulmonary Mycobacterium Avium Complex (MAC) Disease (CleaR-MAC Trial) Recruiting NCT04616924 Phase 3 RHB-204;Placebo
23 Evaluating Newly Approved Drugs in Combination Regimens for Multidrug-Resistant TB With Fluoroquinolone Resistance (endTB-Q) Recruiting NCT03896685 Phase 3 Bedaquiline 100 MG;Delamanid 50 MG Oral Tablet;Clofazimine Pill;Linezolid Pill;Control arm MDR-TB regimen, designed according to latest WHO guidelines
24 CLArithromycin Versus AZIthromycin in the Treatment of Mycobacterium Avium Complex (MAC) Lung Infections Recruiting NCT03236987 Phase 3 Clarithromycin 1000 MG;Azithromycin 250 mg;Rifampicin;Ethambutol
25 Phase II Placebo Controlled Study of Thalidomide in Patients With Mycobacterial and HIV Infections Completed NCT00004276 Phase 2 thalidomide
26 Phase II Study of Amithiozone (Thiacetazone) for Patients With Mycobacterium Avium Complex Pulmonary Disease Completed NCT00004689 Phase 2 amithiozone;clarithromycin;ethambutol;rifampin;streptomycin
27 A Proof of Concept Study of Inhaled Nitric Oxide for Adults With Pulmonary Non-Tuberculous Mycobacterial Infection Completed NCT03748992 Phase 2 gNO
28 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
29 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 Completed NCT03038178 Phase 2 LAI plus multi-drug regimen
30 An Open-label, Non-controlled, Multicentre, Pilot Clinical Trial of Inhaled Molgramostim in Subjects With Antibiotic-resistant Non-tuberculosis Mycobacterial (NTM) Infection Completed NCT03421743 Phase 2 Inhaled molgramostim
31 Open Label Prolonged-Use of Inhaled Gaseous Nitric Oxide (gNO) for a Single Adult With Non-Tuberculous Mycobacteria Infection Completed NCT03473314 Phase 2 Nitric Oxide gas at 160ppm
32 Treatment of Non-Tuberculous Mycobacterial Infections With Interferon Gamma Completed NCT00001318 Phase 2 interferon gamma
33 A Randomized, Double-Blinded, Placebo-Controlled, Phase II Study of the Safety and Efficacy of Inhaled Interferon Gamma-1b With Antimycobacterial in Previously Treated or Moderate to Severe Pulmonary Mycobacterium Avium Complex (MAC) Infection Completed NCT00021567 Phase 2 Interferon Gamma for Aerosol
34 A Phase II/III Prospective, Multicenter, Randomized, Controlled Trial Comparing the Safety and Efficacy of Three Clarithromycin-Containing Combination Drug Regimens for the Treatment of Disseminated Mycobacterium Avium Complex (MAC) Disease in Persons With AIDS Completed NCT00001058 Phase 2 Indinavir sulfate;Ritonavir;Ethambutol hydrochloride;Clarithromycin;Rifabutin
35 The Effect of Therapy on the Tissue Burden of Disseminated MAC Infection as Measured by Quantitative Bone Marrow Culture and Correlation With Quantitative Blood Culture in HIV-Infected Patients Completed NCT00001039 Phase 2 Ethambutol hydrochloride;Clarithromycin
36 A Pilot, Phase II, Randomized, Placebo-Controlled Study to Determine the Effects of Viracept on the Clinical Outcome of Disseminated Mycobacterium Avium Complex Disease (MAC) in AIDS Patients Who Are Receiving Standard Acute Treatment for This Opportunistic Infection Completed NCT00002170 Phase 2 Nelfinavir mesylate
37 Use of Tigecycline for Treatment of Serious Infection Due to Rapidly Growing Mycobacteria (Especially M.Abscessus) Completed NCT00600600 Phase 2 Tigecycline
38 A Phase II Safety and Efficacy Study of Clarithromycin in the Treatment of Disseminated M. Avium Complex (MAC) Infections in Patients With AIDS Completed NCT00000644 Phase 2 Clarithromycin
39 A Phase II/III Trial of Rifampin, Ciprofloxacin, Clofazimine, Ethambutol, and Amikacin in the Treatment of Disseminated Mycobacterium Avium Infection in HIV-Infected Individuals. Completed NCT00000641 Phase 2 Ciprofloxacin hydrochloride;Ethambutol hydrochloride;Amikacin sulfate;Azithromycin;Rifampin;Clofazimine
40 Tolerance, Safety, and Activity of Rifapentine Alone and in Combination Therapy in AIDS Patients With Mycobacterium Avium Complex Bacteremia. Completed NCT00002192 Phase 2 Rifapentine;Ethambutol hydrochloride;Clarithromycin;Azithromycin
41 Sildenafil in Patients With Pulmonary Nontuberculous Mycobacterial Infection Completed NCT01853540 Phase 1, Phase 2 Sildenafil
42 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
43 A Randomized, Partially Blinded, Placebo- and Comparator-Controlled, Multicenter, Phase 2a, Dose Ranging, Proof-of-Concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of SPR720 as Compared With Placebo or Standard of Care for the Treatment of Patients With Mycobacterium Avium Complex (MAC) Pulmonary Disease Recruiting NCT04553406 Phase 1, Phase 2 SPR720;Placebo;Open-label SOC
44 Phase 2 Study of Clofazimine for the Treatment of Pulmonary Mycobacterium Avium Disease Recruiting NCT02968212 Phase 2 Clofazimine
45 A Randomized, Placebo Controlled, Observer-Blind, Phase IIb Study to Evaluate the Efficacy, Safety, and Immunogenicity of BCG Revaccination in Healthy Adolescents for the Prevention of Sustained Infection With Mycobacterium Tuberculosis Recruiting NCT04152161 Phase 2
46 Early Bactericidal Activity of Standard Drugs Used to Treat Mycobacterium Avium Complex: a Pilot Study Recruiting NCT04287049 Phase 2 Azithromycin
47 A Randomized, Placebo-controlled, Observer-blind, Phase 2 Study to Evaluate Safety and Immunogenicity of the Investigational M72/AS01E Mycobacterium Tuberculosis (Mtb) Vaccine in Virally Suppressed, Antiretroviral-treated Participants With Human Immunodeficiency Virus (HIV) Active, not recruiting NCT04556981 Phase 2
48 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
49 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
50 An Open-label, Non-controlled, Multicenter, Pilot Trial, Using Inhaled Molgramostim in Cystic Fibrosis Subjects With Nontuberculous Mycobacterial (NTM) Infection Terminated NCT03597347 Phase 2 Molgramostim nebulizer solution

Search NIH Clinical Center for Immunodeficiency 27a

Cochrane evidence based reviews: mycobacterium infections

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:

40
Bone Marrow, Bone, Lung, T Cells, Lymph Node, Prostate, Skin
Sources

Publications for Immunodeficiency 27a

About this section

Articles related to Immunodeficiency 27a:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. 6 57
8960475 1996
2
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. 6 57
8960473 1996
3
Mendelian susceptibility to mycobacterial disease. 57
20718793 2011
4
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
5
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 57
19084105 2008
6
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 57
15589309 2004
7
Impairment of IL-12-dependent STAT4 nuclear translocation in a patient with recurrent Mycobacterium avium infection. 57
15004198 2004
8
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency. 57
11335769 2001
9
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. 6
10811850 2000
10
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. 6
9497247 1998
11
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 6
9389728 1997
12
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. 6
9142806 1997
13
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. 57
8592339 1995
14
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? 57
7815885 1995
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. 57
7910002 1993
16
Molecular genetics of inherited susceptibility to intracellular parasites. 57
1675564 1991
17
Visceral leishmaniasis in congenic mice of susceptible and resistant phenotypes: immunosuppression by adherent spleen cells. 57
2931376 1985
18
Genetic control of resistance to Mycobacterium intracellulare infection in mice. 57
6480104 1984
19
Genetic control of the innate resistance of mice to Salmonella typhimurium: Ity gene is expressed in vivo by 24 hours after infection. 57
6315821 1983
20
Inbred mouse strain resistance to Mycobacterium lepraemurium follows the Ity/Lsh pattern. 57
6749659 1982
21
Genetic regulation of resistance to intracellular pathogens. 57
7045675 1982
22
Are the Lsh and Ity disease resistance genes at one locus on mouse chromosome 1? 57
7045676 1982
23
Possible monocyte killing defect in familial atypical mycobacteriosis. 57
7229761 1981
24
Defective monocyte functions in a child with fatal disseminated BCG infection. 57
6996876 1980
25
THREE CASES IN THE SAME FAMILY OF FATAL INFECTION WITH M. AVIUM. 57
14215783 1964
26
Mycobacterium bolletii Osteomyelitis of the Metaphyseal Distal Radius Treated With Amikacin Antibiotic Beads. 61
32238280 2020
27
Prevalence of Nontuberculous Mycobacterium Infections versus Tuberculosis among Autopsied HIV Patients in Sub-Saharan Africa: A Systematic Review and Meta-Analysis. 61
33241786 2020
28
Heat-killed Mycobacterium paragordonae therapy exerts an anti-cancer immune response via enhanced immune cell mediated oncolytic activity in xenograft mice model. 61
31874244 2020
29
Nontuberculous Mycobacterial Infections After Cosmetic Procedures: A Systematic Review and Management Algorithm. 61
30964788 2020
30
Multicenter evaluation of the biochip assay for rapid detection of mycobacterial isolates in smear-positive specimens. 61
30685589 2019
31
Regulatory T cells: Friends or foe in human Mycobacterium leprae infection? 61
29150026 2018
32
Evaluation of TNF-α cytokine production in patients with tuberculosis compared to healthy people. 61
30588415 2018
33
Rapidly growing Mycobacterium infections after cosmetic surgery in medical tourists: the Bronx experience and a review of the literature. 61
28780185 2017
34
Nontuberculous Mycobacterium Infections Associated With Heater-Cooler Devices. 61
28821331 2017
35
Mycobacterium bovis Cerebellar Abscess Following Treatment With Bacillus Calmette-Guérin. 61
26966140 2017
36
Preventive Effect of Rifampicin on Alzheimer Disease Needs at Least 450 mg Daily for 1 Year: An FDG-PET Follow-Up Study. 61
28690634 2017
37
Repeated administration of ethambutol in therapeutic dose causes testes alteration and spermatogenesis disruption in Wistar rats. 61
27334974 2017
38
Mycobacterium chelonae-abscessus Complex Infection After Flatfoot Reconstruction. 61
26922731 2016
39
Association of Mycobacterium infections in patients with Mendelian susceptibility to mycobacterial disease with venous thromboembolism. 61
27686649 2016
40
Cutaneous tuberculosis overview and current treatment regimens. 61
26616847 2015
41
Pediatric Cutaneous Nontuberculous Mycobacterium Infections in Singapore. 61
25845296 2015
42
Tree-in-bud pattern of chest CT images for diagnosis of Mycobacterium abscesses. 61
26770485 2015
43
Pharmacokinetics of chewed vs. swallowed raltegravir in a patient with AIDS and MAI infection: some new conflicting data. 61
25598834 2015
44
Tuberculoma masked by glioma: a case report. 61
25511028 2014
45
Abscess resulting from Mycobacterium kansasii in the left thigh of AIDS patient. 61
24937823 2014
46
Vitamin D: a new anti-infective agent? 61
24593793 2014
47
Soft Tissue Infection Caused by Rapid Growing Mycobacterium following Medical Procedures: Two Case Reports and Literature Review. 61
24882980 2014
48
Paradoxical response to disseminated non-tuberculosis mycobacteriosis treatment in a patient receiving tumor necrosis factor-α inhibitor: a case report. 61
24576098 2014
49
Hand infections. 61
24095077 2013
50
The embryonic expression patterns of zebrafish genes encoding LysM-domains. 61
23567754 2013
Sources

Variations for Immunodeficiency 27a

About this section

ClinVar genetic disease variations for Immunodeficiency 27a:

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFNGR1 NM_000416.2(IFNGR1):c.446C>A (p.Ser149Ter) SNV Pathogenic 17942 rs387906572 6:137525569-137525569 6:137204432-137204432
2 IFNGR1 NM_000416.2(IFNGR1):c.131del (p.Pro44fs) Deletion Pathogenic 17943 rs587776853 6:137528169-137528169 6:137207032-137207032
3 IFNGR1 NM_001363527.1(IFNGR1):c.-20_-17dup Duplication Pathogenic 17945 rs587776854 6:137528192-137528193 6:137207055-137207056
4 IFNGR1 NM_000416.2(IFNGR1):c.200+1G>A SNV Pathogenic 17946 rs587776855 6:137528099-137528099 6:137206962-137206962
5 IFNGR1 NM_000416.2(IFNGR1):c.295_306del (p.Trp99_Val102del) Deletion Pathogenic 17948 rs587776857 6:137527340-137527351 6:137206203-137206214
6 IFNGR1 NM_000416.2(IFNGR1):c.230G>A (p.Cys77Tyr) SNV Pathogenic 17949 rs104893974 6:137527416-137527416 6:137206279-137206279
7 IFNGR1 NM_000416.2(IFNGR1):c.182T>A (p.Val61Glu) SNV Pathogenic 17950 rs121912715 6:137528118-137528118 6:137206981-137206981
8 IFNGR1 NM_000416.2(IFNGR1):c.2T>A (p.Met1Lys) SNV Pathogenic 29607 rs387906593 6:137540463-137540463 6:137219326-137219326
9 IFNGR1 NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) Deletion Pathogenic 208588 rs749956849 6:137525492-137525492 6:137204355-137204355
10 IFNGR1 NM_000416.2(IFNGR1):c.641_644delinsCC (p.Cys214fs) Indel Pathogenic 652535 rs1582634237 6:137524725-137524728 6:137203588-137203591
11 IFNGR1 NM_000416.3(IFNGR1):c.476del (p.Val159fs) Deletion Pathogenic 830065 rs1582635229 6:137525539-137525539 6:137204402-137204402
12 BCLAF1 NC_000006.11:g.(?_136482728)_(137540520_?)del Deletion Pathogenic 830657 6:136482728-137540520
13 IFNGR1 NM_000416.3(IFNGR1):c.86-1_93del Deletion Pathogenic 802277 rs753213766 6:137528207-137528215 6:137207070-137207078
14 IFNGR1 NM_000416.2(IFNGR1):c.819_822del (p.Asn274fs) Deletion Pathogenic 17947 rs587776856 6:137522057-137522060 6:137200920-137200923
15 IFNGR1 NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr) SNV Pathogenic 17944 rs104893973 6:137527386-137527386 6:137206249-137206249
16 IFNGR1 NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg) SNV Likely pathogenic 830064 rs1582637044 6:137527351-137527351 6:137206214-137206214
17 IFNGR1 NM_000416.2(IFNGR1):c.733+1G>T SNV Likely pathogenic 664467 rs1582634064 6:137524635-137524635 6:137203498-137203498
18 IFNGR1 NM_000416.3(IFNGR1):c.547-42A>T SNV Likely pathogenic 802275 rs1236009877 6:137524864-137524864 6:137203727-137203727
19 IFNGR1 NM_000416.2(IFNGR1):c.373+2T>C SNV Likely pathogenic 462774 rs1554227230 6:137527271-137527271 6:137206134-137206134
20 IFNGR1 NM_000416.3(IFNGR1):c.40G>A (p.Val14Met) SNV Conflicting interpretations of pathogenicity 723758 rs11575936 6:137540425-137540425 6:137219288-137219288
21 IFNGR1 NM_000416.2(IFNGR1):c.1341C>T (p.Thr447=) SNV Conflicting interpretations of pathogenicity 531671 rs41288979 6:137519297-137519297 6:137198160-137198160
22 IFNGR1 NM_000416.2(IFNGR1):c.609G>A (p.Ala203=) SNV Conflicting interpretations of pathogenicity 531672 rs201471898 6:137524760-137524760 6:137203623-137203623
23 IFNGR1 NM_000416.2(IFNGR1):c.236A>G (p.Asn79Ser) SNV Uncertain significance 569230 rs377227464 6:137527410-137527410 6:137206273-137206273
24 IFNGR1 NM_000416.2(IFNGR1):c.1160C>T (p.Ser387Phe) SNV Uncertain significance 569641 rs1562282319 6:137519478-137519478 6:137198341-137198341
25 IFNGR1 NM_000416.2(IFNGR1):c.694A>G (p.Lys232Glu) SNV Uncertain significance 579786 rs200848254 6:137524675-137524675 6:137203538-137203538
26 IFNGR1 NM_000416.2(IFNGR1):c.1448A>G (p.Glu483Gly) SNV Uncertain significance 582212 rs1341362925 6:137519190-137519190 6:137198053-137198053
27 IFNGR1 NM_000416.2(IFNGR1):c.665A>G (p.His222Arg) SNV Uncertain significance 625961 rs768805562 6:137524704-137524704 6:137203567-137203567
28 IFNGR1 NM_000416.2(IFNGR1):c.655G>A (p.Gly219Arg) SNV Uncertain significance 632475 rs1311661488 6:137524714-137524714 6:137203577-137203577
29 IFNGR1 NM_000416.2(IFNGR1):c.380T>C (p.Ile127Thr) SNV Uncertain significance 639444 rs149216962 6:137525635-137525635 6:137204498-137204498
30 IFNGR1 NM_000416.2(IFNGR1):c.547A>G (p.Ile183Val) SNV Uncertain significance 639650 rs752756474 6:137524822-137524822 6:137203685-137203685
31 IFNGR1 NM_000416.2(IFNGR1):c.866C>G (p.Ser289Cys) SNV Uncertain significance 640371 rs775472233 6:137519772-137519772 6:137198635-137198635
32 IFNGR1 NM_000416.2(IFNGR1):c.111T>G (p.Ile37Met) SNV Uncertain significance 641232 rs762424077 6:137528189-137528189 6:137207052-137207052
33 IFNGR1 NM_000416.2(IFNGR1):c.297G>T (p.Trp99Cys) SNV Uncertain significance 641874 rs1582637035 6:137527349-137527349 6:137206212-137206212
34 IFNGR1 NM_000416.2(IFNGR1):c.589G>A (p.Glu197Lys) SNV Uncertain significance 642105 rs55666220 6:137524780-137524780 6:137203643-137203643
35 IFNGR1 NM_000416.2(IFNGR1):c.566C>A (p.Thr189Lys) SNV Uncertain significance 644527 rs55881171 6:137524803-137524803 6:137203666-137203666
36 IFNGR1 NM_000416.2(IFNGR1):c.286A>G (p.Asn96Asp) SNV Uncertain significance 649589 rs755616208 6:137527360-137527360 6:137206223-137206223
37 IFNGR1 NM_000416.3(IFNGR1):c.547-48_547-45del Deletion Uncertain significance 802276 rs1456987322 6:137524867-137524870 6:137203730-137203733
38 IFNGR1 NM_000416.2(IFNGR1):c.871G>T (p.Val291Leu) SNV Uncertain significance 531668 rs1554226264 6:137519767-137519767 6:137198630-137198630
39 IFNGR1 NM_000416.2(IFNGR1):c.1342G>T (p.Val448Leu) SNV Uncertain significance 531669 rs146424575 6:137519296-137519296 6:137198159-137198159
40 IFNGR1 NM_000416.2(IFNGR1):c.427A>T (p.Ile143Phe) SNV Uncertain significance 531670 rs1360211518 6:137525588-137525588 6:137204451-137204451
41 IFNGR1 NM_000416.2(IFNGR1):c.77C>T (p.Pro26Leu) SNV Uncertain significance 652671 rs768232887 6:137540388-137540388 6:137219251-137219251
42 IFNGR1 NM_000416.2(IFNGR1):c.84A>G (p.Ser28=) SNV Uncertain significance 355563 rs201996266 6:137540381-137540381 6:137219244-137219244
43 IFNGR1 NM_000416.2(IFNGR1):c.665A>G (p.His222Arg) SNV Uncertain significance 625961 rs768805562 6:137524704-137524704 6:137203567-137203567
44 IFNGR1 NM_000416.2(IFNGR1):c.1056A>G (p.Ile352Met) SNV Uncertain significance 658801 rs199641966 6:137519582-137519582 6:137198445-137198445
45 IFNGR1 NM_000416.2(IFNGR1):c.979T>A (p.Ser327Thr) SNV Uncertain significance 659633 rs755921189 6:137519659-137519659 6:137198522-137198522
46 IFNGR1 NM_000416.2(IFNGR1):c.664C>T (p.His222Tyr) SNV Uncertain significance 661761 rs148469894 6:137524705-137524705 6:137203568-137203568
47 IFNGR1 NM_000416.2(IFNGR1):c.100A>G (p.Asn34Asp) SNV Uncertain significance 462773 rs555180897 6:137528200-137528200 6:137207063-137207063
48 IFNGR1 NM_000416.2(IFNGR1):c.1027G>A (p.Val343Met) SNV Uncertain significance 111207 rs121913185 6:137519611-137519611 6:137198474-137198474
49 IFNGR1 NM_000416.2(IFNGR1):c.368G>A (p.Arg123Gln) SNV Uncertain significance 355561 rs146914620 6:137527278-137527278 6:137206141-137206141
50 IFNGR1 NM_000416.2(IFNGR1):c.*297G>A SNV Uncertain significance 355547 rs886061126 6:137518871-137518871 6:137197734-137197734

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

Sources

Expression for Immunodeficiency 27a

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

Pathways for Immunodeficiency 27a

About this section

Pathways related to Immunodeficiency 27a according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.76 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
2
TGF-Beta Pathway 63
Show member pathways
 13.34 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.18 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
4
IL-2 Pathway 63
Show member pathways
 13.03 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
5
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 12.93 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
6
Human cytomegalovirus infection 36
Show member pathways
 12.76 STAT1 JAK1 IFNGR1 IFNA1
7
Pathways in cancer 36
12.75 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
8
Measles 36
Show member pathways
 12.71 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
9
Herpes simplex virus 1 infection 36
12.68 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
10
T cell receptor signaling pathway 36
Show member pathways
 12.52 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
11
Th17 cell differentiation 36
Show member pathways
 12.51 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
12
4-1BB Pathway 63
Show member pathways
 12.47 STAT1 IFNGR1 IFNG
13
Immune response NFAT in immune response 23
Show member pathways
 12.44 IFNGR2 IFNGR1 IFNG
14
NF-kappaB Signaling 4
12.44 STAT1 JAK1 IFNG IFNA1
15
Immune response IL-23 signaling pathway 23
Show member pathways
 12.4 STAT1 JAK1 IFNG
16
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.39 IFNGR2 IFNGR1 IFNG IFNA1
17
Interferon gamma signaling 65
Show member pathways
 12.37 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
18
Toll Comparative Pathway 63
Show member pathways
 12.25 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
19
JAK-STAT signaling pathway 36
Show member pathways
 12.24 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
20
Toxoplasmosis 36
Show member pathways
 12.21 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
21
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.14 STAT1 JAK1 IFNG IFNA1
22
Colorectal Cancer Metastasis 63
12.11 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
23
NOD-like receptor signaling pathway 36
12.1 STAT1 JAK1 IFNA1
24
Bacterial infections in CF airways 23
Show member pathways
 12.09 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
25
Tuberculosis 36
11.99 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
26
IL-2 Signaling Pathway 1
Show member pathways
 11.95 STAT1 JAK1 IFNG
27
Osteoclast differentiation 36
11.94 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
28
HIF-1 signaling pathway 36
11.86 IFNGR2 IFNGR1 IFNG
29
Necroptosis 36
Show member pathways
 11.86 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
30
Th17 Differentiation Pathway 64
Show member pathways
 11.77 STAT1 JAK1 IFNG
31
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.77 STAT1 JAK1 IFNGR1 IFNG
32
Th1 Differentiation Pathway 64
Show member pathways
 11.6 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
33
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.56 STAT1 JAK1
34
TGF-beta Receptor Signaling (WikiPathways) 1
11.55 STAT1 JAK1 IFNG
35
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.54 STAT1 JAK1
36
Cellular Transformation by HTLV1 63
Show member pathways
 11.49 IFNGR2 IFNGR1 IFNG
37
Interleukin-6 family signaling 65
Show member pathways
 11.46 STAT1 JAK1
38
all-trans-Retinoic Acid Mediated Apoptosis 63
11.45 IFNGR2 IFNGR1 IFNA1
39
Interferon type I signaling pathways 1
11.44 STAT1 JAK1
40
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.36 STAT1 JAK1
41
Th2 Differentiation Pathway 64
11.35 JAK1 IFNG
42
Integrated Cancer Pathway 1
11.34 STAT1 JAK1
43
Interleukin-11 Signaling Pathway 1
11.32 STAT1 JAK1
44
IL-7 Signaling Pathway 1
Show member pathways
 11.32 STAT1 JAK1
45
Signaling events mediated by TCPTP 1
Show member pathways
 11.3 STAT1 JAK1
46
Interferon Pathway 63
11.06 STAT1 JAK1 IFNGR2 IFNGR1 IFNG IFNA1
47
Peginterferon alpha-2a/Peginterferon alpha-2b Pathway (Hepatocyte), Pharmacodynamics 60
Show member pathways
 11.03 STAT1 JAK1
48
PDGFR-alpha signaling pathway 1
11.01 JAK1 IFNG
49
Immune response_Oncostatin M signaling via JAK-Stat in human cells 23
10.94 STAT1 JAK1
50
Type II interferon signaling (IFNG) 1
10.92 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
Sources

GO Terms for Immunodeficiency 27a

About this section

Biological processes related to Immunodeficiency 27a according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to virus GO:0009615 9.65 IFNGR2 IFNGR1 IFNG
2 defense response to virus GO:0051607 9.62 STAT1 IFNGR2 IFNG IFNA1
3 humoral immune response GO:0006959 9.6 IFNG IFNA1
4 interleukin-12-mediated signaling pathway GO:0035722 9.59 JAK1 IFNG
5 JAK-STAT cascade GO:0007259 9.58 STAT1 IFNG
6 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.58 IFNG IFNA1
7 positive regulation of amyloid-beta formation GO:1902004 9.57 IFNGR1 IFNG
8 interleukin-6-mediated signaling pathway GO:0070102 9.56 STAT1 JAK1
9 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.55 STAT1 IFNG
10 cytokine-mediated signaling pathway GO:0019221 9.55 STAT1 JAK1 IFNGR2 IFNGR1 IFNA1
11 astrocyte activation GO:0048143 9.54 IFNGR1 IFNG
12 type I interferon signaling pathway GO:0060337 9.54 STAT1 JAK1 IFNA1
13 negative regulation of amyloid-beta clearance GO:1900222 9.52 IFNGR1 IFNG
14 interleukin-35-mediated signaling pathway GO:0070757 9.51 STAT1 JAK1
15 interleukin-27-mediated signaling pathway GO:0070106 9.49 STAT1 JAK1
16 interleukin-9-mediated signaling pathway GO:0038113 9.46 STAT1 JAK1
17 interleukin-21-mediated signaling pathway GO:0038114 9.43 STAT1 JAK1
18 microglial cell activation GO:0001774 9.43 IFNGR2 IFNGR1 IFNG
19 positive regulation of NMDA glutamate receptor activity GO:1904783 9.4 IFNGR2 IFNG
20 interferon-gamma-mediated signaling pathway GO:0060333 9.35 STAT1 JAK1 IFNGR2 IFNGR1 IFNG
21 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.02 STAT1 JAK1 IFNGR2 IFNGR1 IFNG

Molecular functions related to Immunodeficiency 27a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.16 IFNGR2 IFNGR1
2 CCR5 chemokine receptor binding GO:0031730 8.96 STAT1 JAK1
3 interferon-gamma receptor activity GO:0004906 8.62 IFNGR2 IFNGR1
Sources

Sources for Immunodeficiency 27a

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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
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