IMD14
MCID: IMM102
MIFTS: 63

Immunodeficiency 14 (IMD14)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Immunodeficiency 14

MalaCards integrated aliases for Immunodeficiency 14:

Name: Immunodeficiency 14 57 12 43 72 29 6 15
Activated Pi3k-Delta Syndrome 57 12 20 43 58 72 36 44 39 70
Apds 57 12 20 43 58 72
Imd14 57 12 72
Pasli 57 43 72
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due to P110delta-Activating Mutation 12 58
P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 57 72
Pasli Disease 12 20
P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency; Pasli 57
P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 20
P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 43
Activated Pi3k-Delta Immunodeficiency Syndrome 72
Activated Pi3k-Delta Syndrome; Apds 57

Characteristics:

Orphanet epidemiological data:

58
activated pi3k-delta syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy;

OMIM®:

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

Miscellaneous:
onset in infancy or early childhood


HPO:

31
immunodeficiency 14:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111936
OMIM® 57 615513
OMIM Phenotypic Series 57 PS300755
KEGG 36 H01387
SNOMED-CT 67 711480000
ICD10 via Orphanet 33 D81.8
UMLS via Orphanet 71 C3714976
Orphanet 58 ORPHA397596
UMLS 70 C3714976

Summaries for Immunodeficiency 14

MedlinePlus Genetics : 43 Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections.Another possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy), or the white blood cells can build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While lymphadenopathy and nodular lymphoid hyperplasia are noncancerous (benign), activated PI3K-delta syndrome also increases the risk of developing a form of cancer called B-cell lymphoma.

MalaCards based summary : Immunodeficiency 14, also known as activated pi3k-delta syndrome, is related to immunodeficiency with hyper-igm, type 1 and common variable immunodeficiency. An important gene associated with Immunodeficiency 14 is PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta), and among its related pathways/superpathways are Inositol phosphate metabolism and PI3K-Akt signaling pathway. The drugs Valproic acid and Icodextrin have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and eye, and related phenotypes are splenomegaly and lymphadenopathy

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has material basis in heterozygous activating mutation in PIK3CD on chromosome 1p36.22.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397596 Definition A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naive CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.

OMIM® : 57 Immunodeficiency-14 is an autosomal dominant primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by Lucas et al., 2014). (615513) (Updated 05-Apr-2021)

KEGG : 36 Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, and reduced immunoglobulin G2 levels in serum and impaired vaccine responses. A dominant gain-of-function mutation has been found in the p110-delta protein, the catalytic subunit of phosphoinositide 3-kinase delta (PI3K-delta), encoded by the PIK3CD gene.

UniProtKB/Swiss-Prot : 72 Activated PI3K-delta syndrome: A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses.

Related Diseases for Immunodeficiency 14

Diseases related to Immunodeficiency 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 1 30.3 CD8A CD27 BTK
2 common variable immunodeficiency 30.0 LRBA CTLA4 CD27 CARD11 BTK
3 immune deficiency disease 29.7 DCLRE1C CTLA4 CD8A CD27 BTK AKT1
4 thyroid hurthle cell adenoma 10.4 PTEN PIK3CA
5 ovarian clear cell adenofibroma 10.4 PTEN PIK3CA
6 female reproductive endometrioid cancer 10.3 PTEN PIK3R1 PIK3CA
7 breast juvenile papillomatosis 10.3 PIK3CA AKT1
8 uterine corpus endometrial carcinoma 10.3 PTEN PIK3R1 PIK3CA
9 short syndrome 10.3 PIK3R1 PIK3CD CD8A
10 megalencephaly-capillary malformation-polymicrogyria syndrome 10.3 PIK3R2 PIK3CA
11 lung oat cell carcinoma 10.3 PTEN PIK3CA AKT1
12 uterine carcinosarcoma 10.3 PTEN PIK3R1 PIK3CA
13 ovarian cystadenocarcinoma 10.3 PTEN PIK3CA AKT1
14 penile disease 10.3 PTEN CD8A AKT1
15 ovary adenocarcinoma 10.3 PTEN PIK3CA AKT1
16 pre-malignant neoplasm 10.3 PTEN PIK3CA AKT1
17 endometrial adenocarcinoma 10.3 PTEN PIK3R2 AKT1
18 serous cystadenocarcinoma 10.2 PTEN PIK3CA AKT1
19 skin sarcoidosis 10.2 CTLA4 CD8A
20 in situ carcinoma 10.2 PTEN PIK3CA AKT1
21 insulin-like growth factor i 10.2 PIK3R1 PIK3CG AKT1
22 intestinal benign neoplasm 10.2 PTEN PIK3CA AKT1
23 anemia, autoimmune hemolytic 10.2 LRBA CTLA4 CD8A
24 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2 LRBA CTLA4 CD8A
25 giant cell glioblastoma 10.2 PTEN PIK3R1 PIK3CA
26 suppression of tumorigenicity 12 10.2 PTEN PIK3CA AKT1
27 uterine corpus cancer 10.2 PTEN PIK3R1 PIK3CA AKT1
28 immunodeficiency 36 10.2 PIK3R1 PIK3CD CD8A AKT1
29 small cell cancer of the lung 10.2 PTEN PIK3CA AKT1
30 granulomatous hepatitis 10.2 CTLA4 CD8A
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
32 lymphopenia 10.2
33 bronchiectasis 10.2
34 palmoplantar keratoderma, bothnian type 10.2 PTEN PLEK PIK3CB AKT1
35 tuberous sclerosis 10.2 PTEN PIK3CG PIK3CA AKT1
36 exanthem 10.2 CTLA4 CD8A AKT1
37 esophageal tuberculosis 10.2 LRBA CTLA4
38 malignant ovarian surface epithelial-stromal neoplasm 10.2 PTEN PIK3CA CD8A AKT1
39 ductal carcinoma in situ 10.2 PTEN PIK3CA AKT1
40 ovary epithelial cancer 10.2 PTEN PIK3CA CD8A AKT1
41 meningioma, radiation-induced 10.2 PIK3CA AKT1
42 immunodeficiency 16 10.2 CD8A CD27 CARMIL2
43 hypotrichosis 1 10.1 CTLA4 CD8A AKT1
44 hair disease 10.1 CTLA4 CD8A AKT1
45 macroglobulinemia 10.1 CD27 BTK AKT1
46 chickenpox 10.1 CTLA4 CD8A CD27
47 lymphoproliferative syndrome 2 10.1 CTLA4 CD8A CD27
48 thymus gland disease 10.1 PTEN CTLA4 CD8A AKT1
49 thymus cancer 10.1 PTEN CTLA4 CD8A AKT1
50 agammaglobulinemia 10.1

Graphical network of the top 20 diseases related to Immunodeficiency 14:



Diseases related to Immunodeficiency 14

Symptoms & Phenotypes for Immunodeficiency 14

Human phenotypes related to Immunodeficiency 14:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 lymphadenopathy 31 very rare (1%) HP:0002716
3 bronchiectasis 31 very rare (1%) HP:0002110
4 increased circulating igm level 31 very rare (1%) HP:0003496
5 recurrent ear infections 31 very rare (1%) HP:0410018
6 t lymphocytopenia 31 very rare (1%) HP:0005403
7 decreased circulating igg2 level 31 very rare (1%) HP:0008348
8 decreased proportion of class-switched memory b cells 31 very rare (1%) HP:0030388
9 decreased specific pneumococcal antibody level 31 very rare (1%) HP:0012476
10 increased proportion of transitional b cells 31 very rare (1%) HP:0030381
11 immunodeficiency 31 HP:0002721
12 cellulitis 31 HP:0100658
13 recurrent sinopulmonary infections 31 HP:0005425

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
cellulitis
abscess formation

Respiratory Lung:
bronchiectasis

Abdomen Gastrointestinal:
lymphoid nodules on mucosal surfaces

Respiratory:
recurrent respiratory infections
lymphoid nodules on respiratory mucosal surfaces

Immunology:
lymphadenopathy
recurrent sinopulmonary infections
hypogammaglobulinemia
increased serum igm (in some patients)
poor t-cell mitogen response
more
Head And Neck Ears:
recurrent ear infections

Neoplasia:
increased susceptibility to b-cell lymphoma

Clinical features from OMIM®:

615513 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

26 (show top 50) (show all 57)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 11.12 PIK3CA
2 Decreased viability GR00055-A-2 11.12 PIK3CA
3 Decreased viability GR00107-A-1 11.12 PIK3R5
4 Decreased viability GR00154-A 11.12 BTK
5 Decreased viability GR00173-A 11.12 PIK3R2 PPP1R12C
6 Decreased viability GR00221-A-1 11.12 AKT1 BTK PIK3CA PIK3CG PIK3R2 PIK3CB
7 Decreased viability GR00221-A-2 11.12 AKT1 BTK PIK3CA PIK3CG PIK3R2 PIK3R5
8 Decreased viability GR00221-A-3 11.12 AKT1 BTK PIK3R5 PPP1R12C PIK3CB PIK3CD
9 Decreased viability GR00221-A-4 11.12 AKT1 BTK PIK3CA PIK3CG PIK3R2 PIK3R5
10 Decreased viability GR00249-S 11.12 AKT1 PIK3R2 PIK3R5
11 Decreased viability GR00301-A 11.12 BTK PIK3R2
12 Decreased viability GR00342-S-2 11.12 PIK3CG
13 Decreased viability GR00342-S-3 11.12 PIK3CG
14 Decreased viability GR00381-A-1 11.12 PIK3CB
15 Decreased viability GR00386-A-1 11.12 PIK3R5
16 Decreased viability GR00402-S-2 11.12 PIK3CA PIK3CG PIK3CB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.17 PIK3R1 PIK3R2 PIK3R5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.17 PIK3R2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.17 PIK3R2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.17 PIK3CG
21 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.17 DCLRE1C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.17 DCLRE1C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-134 10.17 PIK3CB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.17 BTK PIK3R5
25 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.17 BTK
26 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.17 DCLRE1C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.17 PIK3R5
28 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.17 DCLRE1C
29 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.17 PIK3R5
30 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.17 PIK3R1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.17 PIK3R1 PIK3CG
32 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.17 DCLRE1C
33 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.17 PIK3R2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.17 AKT1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.17 PIK3R1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.17 DCLRE1C
37 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.17 PIK3CB
38 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.17 BTK
39 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.17 PIK3CG
40 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10.17 PIK3R1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.17 BTK
42 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.17 PIK3R1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.17 PIK3R2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-58 10.17 PIK3CG
45 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.17 BTK
46 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.17 BTK AKT1 PIK3CB
47 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.17 AKT1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.17 BTK
49 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.17 PIK3R2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.17 BTK PIK3R2 PIK3R5 AKT1 DCLRE1C PIK3CB

MGI Mouse Phenotypes related to Immunodeficiency 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 AKT1 BTK CARD11 CD27 CD8A DCLRE1C
2 hematopoietic system MP:0005397 10.22 AKT1 BTK CARD11 CARMIL2 CD27 CD8A
3 endocrine/exocrine gland MP:0005379 10.11 AKT1 CARMIL2 CD8A CTLA4 DCLRE1C PIK3CA
4 homeostasis/metabolism MP:0005376 10.1 AKT1 BTK CARD11 CARMIL2 CTLA4 LRBA
5 immune system MP:0005387 10.03 AKT1 BTK CARD11 CARMIL2 CD27 CD8A
6 integument MP:0010771 9.7 AKT1 BTK CARD11 CARMIL2 CD8A CTLA4
7 neoplasm MP:0002006 9.17 AKT1 BTK PIK3CA PIK3CB PIK3R1 PIK3R2

Drugs & Therapeutics for Immunodeficiency 14

Drugs for Immunodeficiency 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
2
Icodextrin Approved, Investigational Phase 4 337376-15-5
3 insulin Phase 4
4 Insulin, Globin Zinc Phase 4
5 Dialysis Solutions Phase 4
6 Pharmaceutical Solutions Phase 4
7 Psychotropic Drugs Phase 4
8 Antipsychotic Agents Phase 4
9 Anticonvulsants Phase 4
10
Pancrelipase Approved, Investigational Phase 2 53608-75-6
11
Glucagon Approved Phase 2 16941-32-5
12
Insulin aspart Approved Phase 2 116094-23-6 16132418
13
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
14
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
15
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
16
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
17
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
18 pancreatin Phase 2
19 Glucagon-Like Peptide 1 Phase 2
20 carnitine Phase 2
21 Gastrointestinal Agents Phase 2
22 Ophthalmic Solutions Phase 2
23 Antibiotics, Antitubercular Phase 1, Phase 2
24 Immunologic Factors Phase 1, Phase 2
25 Immunosuppressive Agents Phase 1, Phase 2
26 Anti-Bacterial Agents Phase 1, Phase 2
27 Anti-Infective Agents Phase 1, Phase 2
28 Antifungal Agents Phase 1, Phase 2
29
Oseltamivir Approved Phase 1 204255-11-8, 196618-13-0 65028
30
Clopidogrel Approved Phase 1 113665-84-2, 120202-66-6 60606
31
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
32 APD791 Investigational Phase 1
33 Antiviral Agents Phase 1
34 Neurotransmitter Agents Phase 1
35 Analgesics, Non-Narcotic Phase 1
36 Fibrinolytic Agents Phase 1
37 Analgesics Phase 1
38 Antirheumatic Agents Phase 1
39 Cyclooxygenase Inhibitors Phase 1
40 Purinergic P2Y Receptor Antagonists Phase 1
41 Anti-Inflammatory Agents Phase 1
42 Antipyretics Phase 1
43 Anti-Inflammatory Agents, Non-Steroidal Phase 1
44 Platelet Aggregation Inhibitors Phase 1
45
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
46
Ceftazidime Approved 78439-06-2, 72558-82-8 5481173
47
Vancomycin Approved 1404-90-6 14969 441141
48
Candesartan cilexetil Approved 145040-37-5 2540
49
Candesartan Experimental 139481-59-7 2541

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Does The Addition Of Divalproex Sodium ER To An Atypical Antipsychotic Drug (APD) Improve Cognition And Psychopathology In Outpatients With Schizophrenia (SCH) Or Schizoaffective Disorder (SAD)? Completed NCT00306475 Phase 4 divalproex sodium ER;placebo
2 Multi-Center, Prospective, Randomized Trial To Demonstrate Improved Metabolic Control of PEN VS Dianeal Only in Diabetic CAPD and APD Patients - The Impendia Trial Completed NCT00567489 Phase 4 Physioneal;Dianeal;Extraneal;Nutrineal
3 The Clinical Effects of Korean Adapted APD in Automated Peritoneal Dialysis Patients Completed NCT01997385 Phase 4
4 A Study to Evaluate the Effects of Icodextrin vs 2.5% Dianeal Used for the Long Dwell in Apd: a Randomized, Open-label Clinical Trial to Analyse the Insulin Resistance Using the Homa Index in Prevalent, Non-diabetic Patients Completed NCT01021878 Phase 4
5 Multi-center,Prospective, Randomized Trial ToDemonstrate Improved Metabolic Control of PEN VS Dianeal In Diabetic CAPD and APD Patients - The Impendia Trial Completed NCT00567398 Phase 3 Dianeal;Physioneal;Extraneal;Nutrineal
6 An Open-label, Non-randomized Extension Study to Evaluate the Long Term Safety, Tolerability, Efficacy and Pharmacokinetics of CDZ173 in Patients With APDS/PASLI (Activated Phosphoinositide 3-kinase Delta Syndrome/p110δ-activating Mutation Causing Senescent T Cells, Lymphadenopathy and Immunodeficiency) Recruiting NCT02859727 Phase 2, Phase 3 CDZ173
7 An Open-label, Non-randomized, Within-patient Dose-finding Study Followed by a Randomized, Subject, Investigator and Sponsor-blinded Placebo Controlled Study to Assess the Efficacy and Safety of CDZ173 in Patients With APDS/PASLI Recruiting NCT02435173 Phase 2, Phase 3 CDZ173
8 An Open-label, Single Arm Study to Investigate the Safety, Pharmacokinetics and Pharmacodynamics of Repeat Doses of Inhaled GSK2269557 in Patients With APDS/PASLI Completed NCT02593539 Phase 2 GSK2269557 DPI 500 mcg
9 Sensor-Controlled Insulin and Glucagon Delivery in Subjects With Type 1 Diabetes: Real-time Adaptation to Changes in Insulin Sensitivity Completed NCT01261052 Phase 2
10 Phase 2 Study of Dialysis Efficiency and Tolerability of Peritoneal Dialysis Solution Containing Glucose Plus L-Carnitine in APD (Automated Peritoneal Dialysis) Treated Uremic Patients Completed NCT00851838 Phase 2 L-Carnitine
11 Sensor-controlled Insulin- and Glucagon Delivery in Subjects With Type 1 Diabetes: Testing of an Automated System in an Outpatient (Hotel) Setting. Completed NCT01871870 Phase 2
12 Sensor-controlled Insulin- and Glucagon Delivery in Subjects With Type 1 Diabetes: Testing of an Automated System in a Supervised Inpatient Setting Completed NCT01552603 Phase 2
13 Evaluation of the Therapeutic Efficacy of APD-209 Eye Drops in Treatment of Acute Phase Adenoviral-Induced Epidemic Keratoconjunctivitis (EKC). A Randomised, Double-Masked, Placebo-Controlled, Multi-Centre Proof-of-Concept Study Completed NCT01977443 Phase 2 APD-209 Eye drops;APD-209 Placebo Eye drops
14 Efficacy and Safety of Rapamycin Therapy for Patients With Activated Phosphoinositide 3-Kinase δ Syndrome Recruiting NCT03383380 Phase 1, Phase 2 Rapamycin
15 Trajectories of Treatment Response as Window Into the Heterogeneity of Psychosis: a Longitudinal Multimodal Imaging Study in Medication-naïve First Episode Psychosis Patients Recruiting NCT03442101 Phase 2 Patients with psychosis will be treated with known antipsychotic medication
16 An Open Label, Prospective, Single Oral Dose Study Evaluating the Pharmacokinetics, Safety, and Tolerability of Oseltamivir in Adult Subjects on Peritoneal Dialysis (PD) Using a Rapid Cycle Regimen to Simulate APD and in Adult Subjects With Creatinine Clearance From 10 to 30 mL/Min Not on Dialysis Completed NCT01556633 Phase 1 Tamiflu (oseltamivir);Tamiflu (oseltamivir)
17 Feasibility and Safety of Anti-PD-L1 Armored Anti-CD22 CAR-T/CAR-TILs Targeting Patients With Solid Tumors Recruiting NCT04556669 Phase 1
18 Phase I Study to Assess the Safety of APD-791 When Co-administered With Aspirin Terminated NCT02034292 Phase 1 Clopidogrel;Aspirin;APD791;Placebo
19 Validity and Security of Domestic Automated Peritoneal Dialysis Machine: A Prospective, Randomized, Controlled, Multi-Center Clinical Trial Unknown status NCT02388945
20 Detecting Auricular Points Among Patients With Knee Osteoarthritis by A Novel Auricular Point Detector (APD): A Pilot Diagnostic Accuracy Study Unknown status NCT03702699
21 Detecting Auricular Points Among Patients With Menstrual Migraine by A Novel Auricular Point Detector (APD): A Pilot Diagnostic Accuracy Study Unknown status NCT03702114
22 Detecting Auricular Points Among Patients With Orofacial Pain by A Novel Auricular Point Detector (APD): A Pilot Diagnostic Accuracy Study Unknown status NCT03702101
23 A Randomized, Multicenter, Crossover Study Comparing the Domestic FM Peritoneal Dialysis Machine With Baxter HOMECHOICE Completed NCT02525497
24 Collecting Recorded Videos of Colonoscopy Screening Tests for the Evaluation of the Automatic Polyp Detection System (APDS) Medical Device Completed NCT03937063
25 Collecting Recorded Videos of Colonoscopy Screening Tests for the Evaluation of the Automatic Polyp Detection System (APDS) Medical Device Completed NCT03891290
26 Optimized vs. Standard Automated Peritoneal Dialysis Regimens (OptiStAR): A Randomized Controlled Trial Completed NCT04017572
27 PD-Improved Dialysis Efficiency With Adapted APD - PD-IDEA Completed NCT02470598
28 Airflow Perturbation Device (APD) for the Evaluation of Pulmonary and Sleep Disorders Completed NCT03054116
29 Intensive Versus Regular Dosage For Peritoneal Dialysis In Non-Hypercatabolic Acute Kidney Injury, A Multicenter Randomized Controlled Trial Recruiting NCT03438877
30 Randomized Multicentric Clinical Trial, Efficcacy of the Treatment Application on Peritonitis in Automated Peritoneal Dialysis (APD); Comparision Between APD Versus Ambulatory Dialysis. Recruiting NCT04077996
31 Correlation Between Selective Motor Control and Upper Extremity Functions in Children With Hemiparetic Cerebral Palsy Recruiting NCT04695639
32 Collecting Recorded Videos of Colonoscopy Screening Tests for the Evaluation of the Automatic Polyp Detection System (APDS) Medical Device Recruiting NCT03891251
33 A Randomized Two Arm Multi-Center Study to Evaluate the Safety and Efficacy of the Use of Magentiq Eye's Automatic Polyp Detection System (ME-APDS) During Colonoscopy Recruiting NCT04640792
34 The Impact of Telemonitoring on Compliance and Outcomes of Patients Undergoing Automated Peritoneal Dialysis With SHARESOURCE Not yet recruiting NCT04157764
35 Comparison of Efficacy and Tolerability of APD Treatment With Different PD Cyclers Not yet recruiting NCT04749680
36 Performance Evaluation of the AMIA Automated Peritoneal Dialysis (APD) Solution Generation System in Patients Using the AMIA APD Cycler Terminated NCT03812679

Search NIH Clinical Center for Immunodeficiency 14

Cochrane evidence based reviews: activated pi3k-delta syndrome

Genetic Tests for Immunodeficiency 14

Genetic tests related to Immunodeficiency 14:

# Genetic test Affiliating Genes
1 Immunodeficiency 14 29 PIK3CD

Anatomical Context for Immunodeficiency 14

MalaCards organs/tissues related to Immunodeficiency 14:

40
T Cells, B Cells, Eye, Myeloid

Publications for Immunodeficiency 14

Articles related to Immunodeficiency 14:

(show all 44)
# Title Authors PMID Year
1
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. 57 6
24610295 2014
2
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. 6 57
24165795 2014
3
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. 57 6
24136356 2013
4
Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology. 6 57
16984281 2006
5
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. 61 6
27693481 2016
6
Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. 6
28632845 2017
7
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. 6
28302518 2017
8
The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment. 6
26732860 2017
9
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 6
27766312 2016
10
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature. 6
27116393 2016
11
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. 6
27221134 2016
12
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 6
27076228 2016
13
PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 6
26974159 2016
14
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency. 6
26437962 2016
15
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 6
26529633 2016
16
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. 6
25939554 2015
17
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis. 6
25352054 2015
18
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 6
25488983 2014
19
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
20
PIK3R1 mutations in SHORT syndrome. 6
23980586 2014
21
A human immunodeficiency caused by mutations in the PIK3R1 gene. 6
25133428 2014
22
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 6
24886349 2014
23
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 6
23810378 2013
24
Mutations in PIK3R1 cause SHORT syndrome. 6
23810382 2013
25
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. 6
23810379 2013
26
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 6
22351933 2012
27
Impaired B and T cell antigen receptor signaling in p110delta PI 3-kinase mutant mice. 57
12130661 2002
28
Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. 6
7705412 1995
29
Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency. 61
32349894 2020
30
Endoscopic airway manifestations in a pediatric patient with activated PI3K-delta syndrome. 61
32969594 2020
31
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1. 61
31953711 2020
32
Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys. 61
32265996 2020
33
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma. 61
30334905 2019
34
T and B-cell signaling in activated PI3K delta syndrome: From immunodeficiency to autoimmunity. 61
31402502 2019
35
Case Study: Mechanism for Increased Follicular Helper T Cell Development in Activated PI3K Delta Syndrome. 61
31031754 2019
36
Activated PIK3CD drives innate B cell expansion yet limits B cell-intrinsic immune responses. 61
30194267 2018
37
Revision endoscopic sinus surgery rates by chronic rhinosinusitis subtype. 61
29851243 2018
38
PI3K Orchestrates T Follicular Helper Cell Differentiation in a Context Dependent Manner: Implications for Autoimmunity. 61
30666254 2018
39
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack. 61
28754522 2017
40
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. 61
27847301 2017
41
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1. 61
28167755 2017
42
The Selective Phosphoinoside-3-Kinase p110δ Inhibitor IPI-3063 Potently Suppresses B Cell Survival, Proliferation, and Differentiation. 61
28713374 2017
43
Adverse effects of intravenous immunoglobulin therapy in patients with antibody deficiency. 61
17301367 2003
44
A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990-2000), in children hospital medical center. 61
17301360 2003

Variations for Immunodeficiency 14

ClinVar genetic disease variations for Immunodeficiency 14:

6 (show top 50) (show all 274)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
2 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>G SNV Pathogenic 446498 rs1554051075 GRCh37: 5:67589664-67589664
GRCh38: 5:68293836-68293836
3 PIK3R1 NM_181523.3(PIK3R1):c.1425+2_1425+3del Deletion Pathogenic 446499 rs1554051067 GRCh37: 5:67589663-67589664
GRCh38: 5:68293835-68293836
4 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>A SNV Pathogenic 446497 rs1554051075 GRCh37: 5:67589664-67589664
GRCh38: 5:68293836-68293836
5 PIK3R1 NM_181523.3(PIK3R1):c.1300-1G>C SNV Pathogenic 446500 rs1554051033 GRCh37: 5:67589536-67589536
GRCh38: 5:68293708-68293708
6 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) Duplication Pathogenic 571336 rs1561299903 GRCh37: 5:67591115-67591116
GRCh38: 5:68295287-68295288
7 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV Pathogenic 376258 rs1057519838 GRCh37: 5:67589618-67589618
GRCh38: 5:68293790-68293790
8 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
9 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs) Deletion Pathogenic 648899 rs1580260232 GRCh37: 5:67588135-67588135
GRCh38: 5:68292307-68292307
10 PIK3R1 NM_181523.3(PIK3R1):c.1404_1425+4del Deletion Pathogenic 935112 GRCh37: 5:67589638-67589663
GRCh38: 5:68293810-68293835
11 PIK3CD NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) SNV Pathogenic 132806 rs28730670 GRCh37: 1:9777666-9777666
GRCh38: 1:9717608-9717608
12 PIK3CD NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132807 rs587777389 GRCh37: 1:9780851-9780851
GRCh38: 1:9720793-9720793
13 PIK3CD NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) SNV Pathogenic 132808 rs587777390 GRCh37: 1:9779982-9779982
GRCh38: 1:9719924-9719924
14 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
15 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
16 PIK3CD NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) SNV Pathogenic 88675 rs397518423 GRCh37: 1:9787030-9787030
GRCh38: 1:9726972-9726972
17 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 60763 rs397515453 GRCh37: 5:67592129-67592129
GRCh38: 5:68296301-68296301
18 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
19 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
20 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Likely pathogenic 60763 rs397515453 GRCh37: 5:67592129-67592129
GRCh38: 5:68296301-68296301
21 PIK3R1 NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) Deletion Likely pathogenic 998150 GRCh37: 5:67589576-67589576
GRCh38: 5:68293748-68293748
22 PIK3CD NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) SNV Likely pathogenic 935418 GRCh37: 1:9787040-9787040
GRCh38: 1:9726982-9726982
23 PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>G SNV Likely pathogenic 827732 rs1403833564 GRCh37: 5:67589535-67589535
GRCh38: 5:68293707-68293707
24 PIK3R1 NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) SNV Uncertain significance 624051 rs148059720 GRCh37: 5:67575490-67575490
GRCh38: 5:68279662-68279662
25 PIK3CD NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) SNV Uncertain significance 541082 rs373779625 GRCh37: 1:9780209-9780209
GRCh38: 1:9720151-9720151
26 PIK3CD NM_005026.5(PIK3CD):c.2214C>A (p.Ser738Arg) SNV Uncertain significance 541083 rs755934302 GRCh37: 1:9782191-9782191
GRCh38: 1:9722133-9722133
27 PIK3CD NM_005026.5(PIK3CD):c.371-18G>C SNV Uncertain significance 931515 GRCh37: 1:9775889-9775889
GRCh38: 1:9715831-9715831
28 PIK3CD NM_005026.5(PIK3CD):c.2095G>A (p.Val699Ile) SNV Uncertain significance 943777 GRCh37: 1:9782072-9782072
GRCh38: 1:9722014-9722014
29 overlap with 14 genes NC_000001.10:g.(?_9770494)_(10690064_?)del Deletion Uncertain significance 831335 GRCh37: 1:9770494-10690064
GRCh38:
30 PIK3CD NC_000001.11:g.(?_9710436)_(9727066_?)dup Duplication Uncertain significance 832820 GRCh37: 1:9770494-9787124
GRCh38:
31 PIK3CD NM_005026.5(PIK3CD):c.1774G>A (p.Val592Ile) SNV Uncertain significance 844529 GRCh37: 1:9781269-9781269
GRCh38: 1:9721211-9721211
32 PIK3CD NM_005026.5(PIK3CD):c.2869C>T (p.Arg957Trp) SNV Uncertain significance 845740 GRCh37: 1:9784866-9784866
GRCh38: 1:9724808-9724808
33 PIK3CD NM_005026.5(PIK3CD):c.2296G>A (p.Glu766Lys) SNV Uncertain significance 846790 GRCh37: 1:9782363-9782363
GRCh38: 1:9722305-9722305
34 PIK3CD NM_005026.5(PIK3CD):c.538C>A (p.Pro180Thr) SNV Uncertain significance 851469 GRCh37: 1:9776074-9776074
GRCh38: 1:9716016-9716016
35 PIK3CD NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr) SNV Uncertain significance 1032966 GRCh37: 1:9780265-9780265
GRCh38: 1:9720207-9720207
36 PIK3CD NM_005026.5(PIK3CD):c.1955+15C>T SNV Uncertain significance 1032967 GRCh37: 1:9781660-9781660
GRCh38: 1:9721602-9721602
37 PIK3CD NM_005026.5(PIK3CD):c.2503G>A (p.Ala835Thr) SNV Uncertain significance 1035901 GRCh37: 1:9783259-9783259
GRCh38: 1:9723201-9723201
38 PIK3CD NM_005026.5(PIK3CD):c.1846G>A (p.Val616Met) SNV Uncertain significance 1035905 GRCh37: 1:9781536-9781536
GRCh38: 1:9721478-9721478
39 PIK3CD NM_005026.5(PIK3CD):c.1478A>C (p.Glu493Ala) SNV Uncertain significance 1038802 GRCh37: 1:9780676-9780676
GRCh38: 1:9720618-9720618
40 PIK3R1 NM_181523.3(PIK3R1):c.1745+5G>A SNV Uncertain significance 1040188 GRCh37: 5:67591157-67591157
GRCh38: 5:68295329-68295329
41 PIK3CD NM_005026.5(PIK3CD):c.866A>G (p.Gln289Arg) SNV Uncertain significance 1041355 GRCh37: 1:9777102-9777102
GRCh38: 1:9717044-9717044
42 PIK3CD NM_005026.5(PIK3CD):c.2489G>A (p.Arg830His) SNV Uncertain significance 1044679 GRCh37: 1:9783245-9783245
GRCh38: 1:9723187-9723187
43 PIK3CD NM_005026.5(PIK3CD):c.809T>G (p.Leu270Trp) SNV Uncertain significance 1046173 GRCh37: 1:9777045-9777045
GRCh38: 1:9716987-9716987
44 PIK3CD NM_005026.5(PIK3CD):c.371-5C>G SNV Uncertain significance 1046269 GRCh37: 1:9775902-9775902
GRCh38: 1:9715844-9715844
45 PIK3CD NM_005026.5(PIK3CD):c.563G>A (p.Arg188Gln) SNV Uncertain significance 1046968 GRCh37: 1:9776099-9776099
GRCh38: 1:9716041-9716041
46 PIK3R1 NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val) SNV Uncertain significance 1047215 GRCh37: 5:67569226-67569226
GRCh38: 5:68273398-68273398
47 PIK3CD NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met) SNV Uncertain significance 581916 rs571644641 GRCh37: 1:9778920-9778920
GRCh38: 1:9718862-9718862
48 PIK3CD NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) SNV Uncertain significance 582515 rs1557669079 GRCh37: 1:9780852-9780852
GRCh38: 1:9720794-9720794
49 PIK3CD NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala) SNV Uncertain significance 373411 rs142050444 GRCh37: 1:9786998-9786998
GRCh38: 1:9726940-9726940
50 PIK3CD NM_005026.5(PIK3CD):c.859G>C (p.Asp287His) SNV Uncertain significance 655070 rs1446283598 GRCh37: 1:9777095-9777095
GRCh38: 1:9717037-9717037

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 14:

72
# Symbol AA change Variation ID SNP ID
1 PIK3CD p.Glu1021Lys VAR_070918 rs397518423

Expression for Immunodeficiency 14

Search GEO for disease gene expression data for Immunodeficiency 14.

Pathways for Immunodeficiency 14

Pathways related to Immunodeficiency 14 according to KEGG:

36
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 PI3K-Akt signaling pathway hsa04151
3 T cell receptor signaling pathway hsa04660
4 B cell receptor signaling pathway hsa04662
5 Fc epsilon RI signaling pathway hsa04664
6 Fc gamma R-mediated phagocytosis hsa04666
7 Leukocyte transendothelial migration hsa04670

Pathways related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

(show top 50) (show all 226)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.22 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
2
Show member pathways
14.01 PTEN PPP1R12C PIK3R5 PIK3R3 PIK3R2 PIK3R1
3
Show member pathways
13.73 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
4
Show member pathways
13.71 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
5
Show member pathways
13.64 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CD
6
Show member pathways
13.62 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
7
Show member pathways
13.57 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
8
Show member pathways
13.57 PLEK PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
9
Show member pathways
13.55 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
10
Show member pathways
13.5 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 CD27
11
Show member pathways
13.47 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 BTK
12
Show member pathways
13.47 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
13
Show member pathways
13.41 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
14
Show member pathways
13.34 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
15
Show member pathways
13.33 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
16
Show member pathways
13.28 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
17
Show member pathways
13.26 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 BTK
18
Show member pathways
13.22 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
19
Show member pathways
13.2 PPP1R12C PIK3R5 PIK3R3 PIK3R2 PIK3R1 AKT1
20
Show member pathways
13.2 PIK3R5 PIK3R3 PIK3R2 PIK3R1 CTLA4 CD8A
21
Show member pathways
13.19 PIK3R5 PIK3R3 PIK3R2 PIK3R1 BTK AKT1
22
Show member pathways
13.17 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
23
Show member pathways
13.17 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
24
Show member pathways
13.16 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG AKT1
25
Show member pathways
13.16 PTEN PPP1R12C PIK3R5 PIK3R3 PIK3R2 PIK3R1
26
Show member pathways
13.15 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CD
27
Show member pathways
13.14 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
28
Show member pathways
13.14 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
29 13.11 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
30
Show member pathways
13.1 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 AKT1
31
Show member pathways
13.09 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
32
Show member pathways
13.08 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
33
Show member pathways
13.08 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
34
Show member pathways
13.07 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
35
Show member pathways
13.05 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
36 13.04 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
37
Show member pathways
13.02 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
38
Show member pathways
13.02 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
39
Show member pathways
13.01 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB
40
Show member pathways
13 PPP1R12C PIK3R5 PIK3R3 PIK3R2 PIK3R1 AKT1
41
Show member pathways
13 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
42
Show member pathways
12.99 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
43
Show member pathways
12.99 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
44
Show member pathways
12.95 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD PIK3CB
45 12.95 PPP1R12C PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
46
Show member pathways
12.95 PTEN PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG
47
Show member pathways
12.94 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
48
Show member pathways
12.92 PIK3R5 PIK3R3 PIK3R2 PIK3R1 CARD11 AKT1
49
Show member pathways
12.92 PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA
50
Show member pathways
12.9 PTEN PIK3R3 PIK3R2 PIK3R1 PIK3CD PIK3CB

GO Terms for Immunodeficiency 14

Cellular components related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.17 PTEN PLEK PIK3R5 PIK3R3 PIK3R2 PIK3R1
2 plasma membrane GO:0005886 10.16 PTEN PLEK PIK3R5 PIK3R1 PIK3CG PIK3CD
3 phosphatidylinositol 3-kinase complex, class IB GO:0005944 9.33 PIK3R5 PIK3CG PIK3CA
4 phosphatidylinositol 3-kinase complex GO:0005942 9.23 PIK3R5 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD
5 phosphatidylinositol 3-kinase complex, class IA GO:0005943 9.13 PIK3R1 PIK3CG PIK3CA

Biological processes related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.22 PIK3R5 PIK3R1 PIK3CG PIK3CB PIK3CA BTK
2 immune system process GO:0002376 10.16 PIK3CG PIK3CD DCLRE1C CTLA4 CD8A BTK
3 phosphorylation GO:0016310 10.14 PIK3R5 PIK3CG PIK3CD PIK3CB PIK3CA BTK
4 protein phosphorylation GO:0006468 10.12 PIK3R1 PIK3CG PIK3CD PIK3CA BTK AKT1
5 positive regulation of gene expression GO:0010628 10.1 PTEN PIK3R3 PIK3CD PIK3CB AKT1
6 adaptive immune response GO:0002250 10.08 PIK3CG PIK3CD DCLRE1C CTLA4 CD8A BTK
7 cytokine-mediated signaling pathway GO:0019221 10.03 PIK3R1 PIK3CD PIK3CB PIK3CA AKT1
8 cell migration GO:0016477 10.01 PTEN PIK3CG PIK3CD PIK3CB PIK3CA CARMIL2
9 positive regulation of cell migration GO:0030335 10 PIK3R3 PIK3R1 PIK3CD CARMIL2
10 axon guidance GO:0007411 9.99 PIK3R1 PIK3CD PIK3CB PIK3CA
11 leukocyte migration GO:0050900 9.97 PIK3R2 PIK3R1 PIK3CB PIK3CA
12 Fc-epsilon receptor signaling pathway GO:0038095 9.97 PIK3R2 PIK3R1 PIK3CB PIK3CA CARD11 BTK
13 positive regulation of protein kinase B signaling GO:0051897 9.95 PIK3R5 PIK3R2 PIK3R1 PIK3CG PIK3CD PIK3CB
14 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.93 PIK3R2 PIK3R1 PIK3CB PIK3CA
15 cellular response to insulin stimulus GO:0032869 9.91 PTEN PIK3R2 PIK3R1 AKT1
16 platelet activation GO:0030168 9.91 PIK3R5 PIK3R1 PIK3CG PIK3CB PIK3CA
17 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.91 PIK3R5 PIK3R1 PIK3CG PIK3CD PIK3CB PIK3CA
18 T cell receptor signaling pathway GO:0050852 9.91 PIK3R2 PIK3R1 PIK3CD PIK3CB PIK3CA CTLA4
19 response to organic substance GO:0010033 9.88 PTEN BTK AKT1
20 insulin receptor signaling pathway GO:0008286 9.88 PIK3R3 PIK3R2 PIK3R1 AKT1
21 B cell differentiation GO:0030183 9.87 PIK3R1 DCLRE1C CARD11
22 positive regulation of endothelial cell migration GO:0010595 9.87 PIK3CG PIK3CD PIK3CB AKT1
23 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.86 PIK3R2 PIK3R1 PIK3CB PIK3CA
24 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.85 CARD11 BTK AKT1
25 negative regulation of protein kinase B signaling GO:0051898 9.85 PTEN PIK3CB AKT1
26 T cell activation GO:0042110 9.85 PIK3CG PIK3CD CD8A CARD11
27 T cell costimulation GO:0031295 9.85 PIK3R1 PIK3CA CTLA4 CARD11 AKT1
28 epidermal growth factor receptor signaling pathway GO:0007173 9.83 PIK3R1 PIK3CA AKT1
29 platelet aggregation GO:0070527 9.83 PLEK PIK3CG PIK3CB
30 protein kinase B signaling GO:0043491 9.83 PTEN PIK3R3 PIK3CA AKT1
31 phosphatidylinositol-mediated signaling GO:0048015 9.8 PIK3R2 PIK3R1 PIK3CG PIK3CD PIK3CB PIK3CA
32 positive regulation of lamellipodium assembly GO:0010592 9.79 PIK3R1 PIK3CA CARMIL2
33 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.78 PIK3R5 PIK3R3 PIK3R2 PIK3R1
34 sphingosine-1-phosphate receptor signaling pathway GO:0003376 9.75 PIK3CG PIK3CB AKT1
35 insulin-like growth factor receptor signaling pathway GO:0048009 9.71 PIK3R1 AKT1
36 positive regulation of B cell differentiation GO:0045579 9.71 CD27 BTK
37 T cell chemotaxis GO:0010818 9.7 PIK3CG PIK3CD
38 anoikis GO:0043276 9.7 PIK3CA AKT1
39 phosphatidylinositol phosphorylation GO:0046854 9.7 PIK3R3 PIK3R2 PIK3R1 PIK3CG PIK3CD PIK3CB
40 negative regulation of cell size GO:0045792 9.69 PTEN AKT1
41 negative regulation of fibroblast apoptotic process GO:2000270 9.68 PIK3CG PIK3CA
42 positive regulation of Rac protein signal transduction GO:0035022 9.67 PIK3CG PIK3CB
43 neutrophil extravasation GO:0072672 9.66 PIK3CG PIK3CD
44 positive regulation of neutrophil apoptotic process GO:0033031 9.65 PIK3CD PIK3CB
45 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.65 PIK3R3 PIK3CG PIK3CD PIK3CB PIK3CA
46 cellular response to decreased oxygen levels GO:0036294 9.64 PTEN AKT1
47 regulation of B cell apoptotic process GO:0002902 9.64 PTEN BTK
48 respiratory burst involved in defense response GO:0002679 9.62 PIK3CG PIK3CD
49 phosphatidylinositol 3-kinase signaling GO:0014065 9.61 PTEN PIK3R5 PIK3R2 PIK3R1 PIK3CG PIK3CD
50 natural killer cell chemotaxis GO:0035747 9.6 PIK3CG PIK3CD

Molecular functions related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.47 PTEN PPP1R12C PLEK PIK3R3 PIK3R2 PIK3R1
2 kinase activity GO:0016301 9.98 PIK3R5 PIK3CG PIK3CD PIK3CB PIK3CA BTK
3 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.71 PIK3R5 PIK3R3 PIK3R2 PIK3R1
4 phosphatidylinositol kinase activity GO:0052742 9.67 PIK3CG PIK3CD PIK3CB PIK3CA
5 phosphotyrosine residue binding GO:0001784 9.63 PIK3R3 PIK3R2 PIK3R1
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.62 PIK3CG PIK3CD PIK3CB PIK3CA
7 1-phosphatidylinositol-4-phosphate 3-kinase activity GO:0035005 9.56 PIK3CG PIK3CD PIK3CB PIK3CA
8 insulin receptor substrate binding GO:0043560 9.48 PIK3R1 PIK3CA
9 phosphatidylinositol 3-kinase activity GO:0035004 9.46 PIK3CG PIK3CD PIK3CB PIK3CA
10 phosphatidylinositol-3,4-bisphosphate 5-kinase activity GO:0052812 9.26 PIK3CG PIK3CD PIK3CB PIK3CA
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.02 PIK3R3 PIK3CG PIK3CD PIK3CB PIK3CA

Sources for Immunodeficiency 14

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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