IMD27B
MCID: IMM186
MIFTS: 47

Immunodeficiency 27b (IMD27B)

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

Aliases & Classifications for Immunodeficiency 27b

MalaCards integrated aliases for Immunodeficiency 27b:

Name: Immunodeficiency 27b 57 12 73 29 6 15 71
Imd27b 57 12 73
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency 12 58
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency 12 58
Autosomal Dominant Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency 12 58
Autosomal Dominant Msmd Due to Partial Ifngammar1 Deficiency 12 58
Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant 57 73
Immunodeficiency 27b, Mycobacteriosis, Ad 57 29
Ifngr1 Deficiency, Autosomal Dominant 57 73
Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant 39
Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis 12
Mycobacterium Infections, Nontuberculous 44
Autosomal Dominant Ifngr1 Deficiency 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients may develop disseminated disease after bcg vaccination
patients may respond well to treatment with gamma-interferon


HPO:

31
immunodeficiency 27b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111956
OMIM® 57 615978
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319581
UMLS 71 C4014863

Summaries for Immunodeficiency 27b

UniProtKB/Swiss-Prot : 73 Immunodeficiency 27B: 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. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients.

MalaCards based summary : Immunodeficiency 27b, also known as imd27b, is related to immunodeficiency 27a and mycobacterium fortuitum. An important gene associated with Immunodeficiency 27b is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Mupirocin and Gentamicins have been mentioned in the context of this disorder. Related phenotypes are immunodeficiency and osteomyelitis

Disease Ontology : 12 A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has material basis in heterozygous mutation in IFNGR1 on chromosome 6q23.3.

OMIM® : 57 Immunodeficiency-27B results from autosomal dominant (AD) IFNGR1 deficiency. Patients with AD IFNGR1 deficiency commonly present with recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG). In contrast with patients with complete autosomal recessive (AR) IFNGR1 deficiency (IMD27A), cells from patients with AD IFNGR1 deficiency display residual responses to IFNG in vitro, indicating that the deficiency in IFNGR1 is partial. The clinical features of AD IFNGR1 deficiency are usually less severe than those in children with complete AR IFNGR1 deficiency, and mycobacterial infection often occurs later (mean age of 13.4 years vs 1.3 years), with patients having longer mean disease-free survival. In patients with AD IFNGR1 deficiency, M. avium tends to cause unifocal or multifocal osteomyelitis. 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). (615978) (Updated 05-Mar-2021)

Related Diseases for Immunodeficiency 27b

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 27a 30.9 STAT1 JAK1 IFNGR2 IFNGR1
2 mycobacterium fortuitum 10.3 IL12RB1 IFNGR1
3 beta-lactam allergy 10.3 IFNGR2 IFNGR1
4 nocardiosis 10.2 IL12RB1 IFNGR2
5 miliary tuberculosis 10.2 IL12RB1 IFNGR1
6 immunodeficiency 28 10.2 IL12RB1 IFNGR2 IFNGR1
7 suppurative lymphadenitis 10.1 DOCK8 CYBB
8 eczema herpeticum 10.1 IFNGR1 DOCK8
9 atypical mycobacteriosis, familial 10.1 IFNGR1 CYBB
10 opportunistic bacterial infectious disease 10.1 IRF8 IL12RB1 IFNGR2
11 immunodeficiency with hyper-igm, type 3 10.1 IKBKG DOCK8
12 primary systemic mycosis 10.1 STAT1 IL12RB1
13 coccidioidomycosis 10.1 STAT1 IL12RB1 IFNGR1
14 macs syndrome 10.1 STAT1 IL12RB1 IFNGR1
15 salmonellosis 10.0 STAT1 IL12RB1 IFNGR1
16 hyper ige recurrent infection syndrome 1 10.0 STAT1 IL12RB1 DOCK8
17 x-linked mendelian susceptibility to mycobacterial diseases 10.0 IKBKG CYBB
18 nail disease 10.0 STAT1 IL12RB1 DOCK8
19 opportunistic mycosis 10.0 STAT1 IL12RB1 DOCK8
20 fungal infectious disease 10.0 STAT1 IL12RB1 DOCK8
21 sarcoidosis 1 10.0 STAT1 IL12RB1 IFNGR2
22 omenn syndrome 10.0 IKBKG IFNGR1 DOCK8
23 immunodeficiency 30 10.0 SEZ6L2 MS4A1 IL12RB1 IFNGR2
24 phagocyte bactericidal dysfunction 10.0 DOCK8 CYBB
25 histoplasmosis 10.0 STAT1 IL12RB1
26 mycobacterium tuberculosis 1 10.0 STAT1 IL12RB1 IFNGR1
27 immunodeficiency 31b 9.9 STAT1 IL12RB1 IKBKG
28 aneruptive fever 9.9 TBX21 GATA3
29 type 1 diabetes mellitus 21 9.9 TBX21 GATA3
30 dermatitis, atopic, 5 9.9 TBX21 GATA3
31 t-cell prolymphocytic leukemia 9.9 MS4A1 JAK1
32 sting-associated vasculopathy with onset in infancy 9.9 STAT1 JAK1
33 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9 TBX21 STAT1 DOCK8
34 axillary adenitis 9.8 SEZ6L2 IRF8 IL12RB1 IFNGR2 IFNGR1
35 bronchial disease 9.8 TBX21 IFNGR1 GATA3
36 gastrointestinal tularemia 9.8 TBX21 IRF8 CYBB
37 immunodeficiency 21 9.7 STAT1 IRF8 IL12RB1 IFNGR2 DOCK8
38 aicardi-goutieres syndrome 9.6 STAT1 JAK1 ISG15
39 immunodeficiency 35 9.6 STAT1 JAK1 IL12RB1 DOCK8
40 tuberculous salpingitis 9.6 IRF8 IL12RB1 IKBKG IFNGR2 CYBB
41 chronic mucocutaneous candidiasis 9.5 STAT1 IL12RB1 IKBKG IFNGR2 IFNGR1 DOCK8
42 immune deficiency disease 9.5 STAT1 IL12RB1 IKBKG IFNGR1 CYBB
43 behcet syndrome 9.5 TBX21 IRF8 IL12RB1
44 combined immunodeficiency 9.4 STAT1 JAK1 IKBKG DOCK8
45 inflammatory bowel disease 9.3 TBX21 STAT1 IFNGR2 IFNGR1 GATA3
46 acute promyelocytic leukemia 9.2 STAT1 JAK1 ISG15 IRF8
47 systemic lupus erythematosus 8.7 TBX21 STAT1 JAK1 ISG15 IRF8 IL12RB1

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



Diseases related to Immunodeficiency 27b

Symptoms & Phenotypes for Immunodeficiency 27b

Human phenotypes related to Immunodeficiency 27b:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 osteomyelitis 31 HP:0002754
3 generalized lymphadenopathy 31 HP:0008940
4 recurrent mycobacterial infections 31 HP:0011274
5 salmonella osteomyelitis 31 HP:0005661

Symptoms via clinical synopsis from OMIM®:

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

Clinical features from OMIM®:

615978 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Immunodeficiency 27b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CYBB DOCK8 GATA3 IFNGR1 IFNGR2 IKBKG
2 immune system MP:0005387 9.77 CYBB DOCK8 GATA3 IFNGR1 IFNGR2 IKBKG
3 digestive/alimentary MP:0005381 9.73 CYBB GATA3 IFNGR1 IKBKG STAT1 TBX21
4 neoplasm MP:0002006 9.1 CYBB IFNGR1 IKBKG IRF8 STAT1 TBX21

Drugs & Therapeutics for Immunodeficiency 27b

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

(show all 38)
# 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
Moxifloxacin Approved, Investigational Phase 3 151096-09-2, 354812-41-2 152946
5
Amikacin Approved, Investigational, Vet_approved Phase 3 37517-28-5 37768
6
Ethambutol Approved Phase 3 74-55-5 3279 14052
7
Azithromycin Approved Phase 3 83905-01-5 55185 447043
8
Rifampicin Approved Phase 2, Phase 3 13292-46-1 5458213 5381226
9 Cytochrome P-450 CYP3A Inhibitors Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11 Norgestimate, ethinyl estradiol drug combination Phase 3
12 Antitubercular Agents Phase 3
13 Anti-Infective Agents Phase 2, Phase 3
14 Anti-Bacterial Agents Phase 2, Phase 3
15 Antibiotics, Antitubercular Phase 2, Phase 3
16
Nitric Oxide Approved Phase 2 10102-43-9 145068
17
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
18 Molgramostim Investigational Phase 2 99283-10-0
19 Respiratory System Agents Phase 2
20 Protective Agents Phase 2
21 Anti-Asthmatic Agents Phase 2
22 Antioxidants Phase 2
23 Neurotransmitter Agents Phase 2
24 Bronchodilator Agents Phase 2
25 Vasodilator Agents Phase 2
26 Endothelium-Dependent Relaxing Factors Phase 2
27 Adjuvants, Immunologic Phase 2
28 Interferon-gamma Phase 2
29 interferons Phase 2
30 Antiviral Agents Phase 2
31 Immunologic Factors Phase 2
32 Pharmaceutical Solutions Phase 2
33
Gallium nitrate Approved, Investigational Phase 1 13494-90-1 61635
34 Angiogenesis Inhibitors Phase 1
35 Interleukin-12 Phase 1
36 Hormones Phase 1
37 Calcium, Dietary Phase 1
38
Calcium Nutraceutical Phase 1 7440-70-2 271

Interventional clinical trials:

(show all 29)
# 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 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
3 Efficacy of Clarithromycin or Moxifloxacin Containing Regimen in 6 Months Sputum Conversion of Mycobacterium Xenopi Completed NCT01298336 Phase 3 Clarithromycin;Moxifloxacin
4 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
5 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)
6 Comparison of Two- Versus Three-antibiotic Therapy for Pulmonary Mycobacterium Avium Complex Disease Recruiting NCT03672630 Phase 2, Phase 3 Azithromycin;Ethambutol;Rifampin
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 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
9 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
10 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
11 Treatment of Non-Tuberculous Mycobacterial Infections With Interferon Gamma Completed NCT00001318 Phase 2 interferon gamma
12 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
13 A Proof of Concept Study of Inhaled Nitric Oxide for Adults With Pulmonary Non-Tuberculous Mycobacterial Infection Completed NCT03748992 Phase 2 gNO
14 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
15 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
16 Interleukin-12 in the Treatment of Severe Nontuberculous Mycobacterial Infections Completed NCT00001911 Phase 1 Interleukin-12
17 A Phase 1b, Multi-center Study of Intravenous (IV) Gallium Nitrate in Patients With Cystic Fibrosis (CF) Who Are Colonized With Nontuberculous Mycobacteria (NTM) (The ABATE Study) Not yet recruiting NCT04294043 Phase 1 Gallium nitrate
18 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
19 A Prospective Registry For Non Tuberculous Mycobacterial (NTM) Infections Unknown status NCT02355015
20 Whole Genome Sequencing of Nontuberculous Mycobacterium (NTM) Derived From Sputum Specimen of NTM Lung Disease Patients Living Together and From Their Environmental Samples Unknown status NCT03532438
21 Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study Completed NCT02832843
22 Diagnostic Accuracy and Inter-rater Agreement of Chest Computed Tomography in the Diagnosis of Nontuberculous Mycobacterial Lung Disease Completed NCT02340897
23 Special Investigation of Clarith/Klaricid in Patients With Non-tuberculous Mycobacterial Pulmonary Infections Completed NCT01097005
24 Multicenter Study of Nontuberculous Mycobacteria in Cystic Fibrosis Patients Completed NCT00004296
25 Treatment Outcomes in Patient With Nontuberculous Mycobacterial Disease in the University of Illinois Hospital & Health Sciences System Completed NCT01680822
26 A Pilot Study to Assess the Effect of Intermittent Inhaled Nitric Oxide on the Treatment of Nontuberculous Mycobacteria (NTM) Lung Infection in Cystic Fibrosis and Non-Cystic Fibrosis Patients Recruiting NCT04685720
27 Healthcare-associated Links in Transmission of Nontuberculous Mycobacteria Among Patients With Cystic Fibrosis Recruiting NCT04024423
28 The Registry of Controls for Respiratory Diseases Recruiting NCT03120481
29 Epidemiology and Clinical Characteristics of Non-Tuberculous Mycobacteria Infections in Cystic Fibrosis Patients. Not yet recruiting NCT03312075

Search NIH Clinical Center for Immunodeficiency 27b

Cochrane evidence based reviews: mycobacterium infections, nontuberculous

Genetic Tests for Immunodeficiency 27b

Genetic tests related to Immunodeficiency 27b:

# Genetic test Affiliating Genes
1 Immunodeficiency 27b 29 IFNGR1
2 Immunodeficiency 27b, Mycobacteriosis, Ad 29

Anatomical Context for Immunodeficiency 27b

Publications for Immunodeficiency 27b

Articles related to Immunodeficiency 27b:

# Title Authors PMID Year
1
Case 28-2017. A 13-Month-Old Girl with Pneumonia and a 33-Year-Old Woman with Hip Pain. 57 6
28902581 2017
2
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. 6 57
10192386 1999
3
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 57
19084105 2008
4
Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections. 6
16867158 2006
5
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 57
15589309 2004
6
Divergent role for TNF-alpha in IFN-gamma-induced killing of Toxoplasma gondii and Salmonella typhimurium contributes to selective susceptibility of patients with partial IFN-gamma receptor 1 deficiency. 57
12244188 2002
7
[Generalized familial semibenign BCG infection, salmonella osteomyelitis and intestinal pseudotuberculosis--due to a familial defect of the macrophage system? (author's transl)]. 57
1248490 1976

Variations for Immunodeficiency 27b

ClinVar genetic disease variations for Immunodeficiency 27b:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFNGR1 NM_000416.2(IFNGR1):c.819del (p.Asn274fs) Deletion Pathogenic 17952 rs587776859 6:137522060-137522060 6:137200923-137200923
2 IFNGR1 NM_000416.2(IFNGR1):c.794del (p.Phe265fs) Deletion Pathogenic 17954 rs587776860 6:137522085-137522085 6:137200948-137200948
3 IFNGR1 NM_000416.2(IFNGR1):c.819_822del (p.Asn274fs) Deletion Pathogenic 17947 rs587776856 6:137522057-137522060 6:137200920-137200923
4 IFNGR1 NM_000416.2(IFNGR1):c.665A>G (p.His222Arg) SNV Uncertain significance 625961 rs768805562 6:137524704-137524704 6:137203567-137203567
5 IFNGR1 NM_000416.2(IFNGR1):c.566C>A (p.Thr189Lys) SNV Uncertain significance 644527 rs55881171 6:137524803-137524803 6:137203666-137203666
6 IFNGR1 NM_000416.3(IFNGR1):c.523del (p.Tyr175fs) Deletion Uncertain significance 208588 rs749956849 6:137525492-137525492 6:137204355-137204355
7 IFNGR1 NM_000416.3(IFNGR1):c.974C>T (p.Pro325Leu) SNV Uncertain significance 992563 6:137519664-137519664 6:137198527-137198527

Expression for Immunodeficiency 27b

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

Pathways for Immunodeficiency 27b

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

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 STAT1 JAK1 ISG15 IRF8 IL12RB1 IKBKG
2
Show member pathways
13.08 STAT1 JAK1 ISG15 IRF8 IL12RB1 IKBKG
3
Show member pathways
12.94 STAT1 JAK1 IKBKG IFNGR2 IFNGR1
4 12.76 STAT1 JAK1 IL12RB1 IKBKG IFNGR2 IFNGR1
5 12.71 STAT1 JAK1 IKBKG IFNGR2 IFNGR1
6
Show member pathways
12.71 STAT1 JAK1 ISG15 IKBKG IFNGR2 IFNGR1
7
Show member pathways
12.52 IL12RB1 IKBKG IFNGR2 IFNGR1
8
Show member pathways
12.48 STAT1 JAK1 IL12RB1 IKBKG
9
Show member pathways
12.48 STAT1 JAK1 IKBKG IFNGR2 IFNGR1 GATA3
10 12.42 TBX21 STAT1 JAK1 IRF8 IKBKG GATA3
11
Show member pathways
12.37 STAT1 JAK1 ISG15 IRF8 IFNGR2 IFNGR1
12
Show member pathways
12.33 STAT1 JAK1 IL12RB1 IFNGR2 IFNGR1
13
Show member pathways
12.3 TBX21 STAT1 JAK1 IL12RB1 IKBKG IFNGR2
14
Show member pathways
12.24 STAT1 JAK1 IKBKG IFNGR2 IFNGR1
15
Show member pathways
12.22 STAT1 JAK1 IKBKG
16
Show member pathways
12.16 STAT1 JAK1 ISG15 IRF8
17 12.15 STAT1 JAK1 IKBKG CYBB
18 12.14 STAT1 JAK1 IFNGR2 IFNGR1
19
Show member pathways
12.12 STAT1 JAK1 IFNGR2 IFNGR1 CYBB
20 12.09 STAT1 JAK1 IFNGR2 IFNGR1
21
Show member pathways
12.09 STAT1 JAK1 IKBKG IFNGR2 IFNGR1
22
Show member pathways
12.01 STAT1 JAK1 IKBKG IFNGR2 IFNGR1 CYBB
23 11.89 STAT1 JAK1 GATA3
24
Show member pathways
11.88 TBX21 STAT1 IL12RB1
25 11.87 STAT1 JAK1 IKBKG IFNGR2 IFNGR1
26 11.85 IFNGR2 IFNGR1 CYBB
27
Show member pathways
11.78 JAK1 IL12RB1 IKBKG
28 11.77 STAT1 JAK1 IFNGR2 IFNGR1
29
Show member pathways
11.76 STAT1 JAK1 IL12RB1
30
Show member pathways
11.76 STAT1 JAK1 IFNGR1
31 11.71 TBX21 STAT1 GATA3
32 11.7 TBX21 IL12RB1 GATA3
33
Show member pathways
11.48 IKBKG IFNGR2 IFNGR1
34
Show member pathways
11.38 TBX21 STAT1 JAK1 IL12RB1 IFNGR2 IFNGR1
35 11.18 TBX21 GATA3
36
Show member pathways
11.03 STAT1 JAK1
37 10.94 STAT1 JAK1
38 10.74 STAT1 JAK1 ISG15 IRF8 IFNGR2 IFNGR1

GO Terms for Immunodeficiency 27b

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.73 STAT1 JAK1 IL12RB1 IFNGR2 IFNGR1 GATA3
2 defense response GO:0006952 9.71 STAT1 GATA3 CYBB
3 response to bacterium GO:0009617 9.69 MS4A1 ISG15 IRF8
4 cellular response to interferon-gamma GO:0071346 9.67 STAT1 IRF8 IL12RB1
5 type I interferon signaling pathway GO:0060337 9.62 STAT1 JAK1 ISG15 IRF8
6 positive regulation of erythrocyte differentiation GO:0045648 9.57 STAT1 ISG15
7 microglial cell activation GO:0001774 9.56 IFNGR2 IFNGR1
8 negative regulation of interleukin-2 production GO:0032703 9.55 TBX21 GATA3
9 response to virus GO:0009615 9.55 TBX21 IKBKG IFNGR2 IFNGR1 GATA3
10 interleukin-6-mediated signaling pathway GO:0070102 9.52 STAT1 JAK1
11 interleukin-35-mediated signaling pathway GO:0070757 9.48 STAT1 JAK1
12 interleukin-27-mediated signaling pathway GO:0070106 9.46 STAT1 JAK1
13 interleukin-9-mediated signaling pathway GO:0038113 9.43 STAT1 JAK1
14 interleukin-21-mediated signaling pathway GO:0038114 9.4 STAT1 JAK1
15 lymphocyte migration GO:0072676 9.37 TBX21 GATA3
16 interferon-gamma-mediated signaling pathway GO:0060333 9.35 STAT1 JAK1 IRF8 IFNGR2 IFNGR1
17 regulation of interferon-gamma-mediated signaling pathway GO:0060334 8.92 STAT1 JAK1 IFNGR2 IFNGR1

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

# Name GO ID Score Top Affiliating Genes
1 CCR5 chemokine receptor binding GO:0031730 9.16 STAT1 JAK1
2 cytokine receptor activity GO:0004896 9.13 IL12RB1 IFNGR2 IFNGR1
3 interferon-gamma receptor activity GO:0004906 8.62 IFNGR2 IFNGR1

Sources for Immunodeficiency 27b

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
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