IMD14A
MCID: IMM240
MIFTS: 52

Immunodeficiency 14a, Autosomal Dominant (IMD14A)

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

Aliases & Classifications for Immunodeficiency 14a, Autosomal Dominant

MalaCards integrated aliases for Immunodeficiency 14a, Autosomal Dominant:

Name: Immunodeficiency 14a, Autosomal Dominant 57
Activated Pi3k-Delta Syndrome 57 43 58 72 36 39
Apds 57 43 58 72
P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 57 72 6
Pasli 57 43 72
Immunodeficiency 14 43 72
P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency; Pasli 57
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due to P110delta-Activating Mutation 58
P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 43
Activated Pi3k-Delta Immunodeficiency Syndrome 72
Activated Pi3k-Delta Syndrome; Apds 57
Imd14a 57
Imd14 72

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 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood


HPO:

31
immunodeficiency 14a, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 615513
OMIM Phenotypic Series 57 PS300755
KEGG 36 H01387
MeSH 44 D007153
ICD10 via Orphanet 33 D81.8
UMLS via Orphanet 71 C3714976
Orphanet 58 ORPHA397596

Summaries for Immunodeficiency 14a, Autosomal Dominant

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 14a, Autosomal Dominant, also known as activated pi3k-delta syndrome, is related to immunodeficiency 14 and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. An important gene associated with Immunodeficiency 14a, Autosomal Dominant 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 Icodextrin and Valproic acid 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

OMIM® : 57 Autosomal dominant immunodeficiency-14A (IMD14A) is a 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 20-May-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 14a, Autosomal Dominant

Graphical network of the top 20 diseases related to Immunodeficiency 14a, Autosomal Dominant:



Diseases related to Immunodeficiency 14a, Autosomal Dominant

Symptoms & Phenotypes for Immunodeficiency 14a, Autosomal Dominant

Human phenotypes related to Immunodeficiency 14a, Autosomal Dominant:

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 20-May-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 20-May-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 14a, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after gemcitabine stimulation GR00107-A-2 8.96 PIK3CD PIK3R1
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.62 PIK3R1 PTEN

Drugs & Therapeutics for Immunodeficiency 14a, Autosomal Dominant

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icodextrin Approved, Investigational Phase 4 337376-15-5
2
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
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 Neurotransmitter Agents Phase 4
10 Anticonvulsants Phase 4
11
Pancrelipase Approved, Investigational Phase 2 53608-75-6
12
Glucagon Approved Phase 2 16941-32-5
13
Insulin aspart Approved Phase 2 116094-23-6 16132418
14
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
15
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
16
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
17
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
18
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
19 pancreatin Phase 2
20 Glucagon-Like Peptide 1 Phase 2
21 carnitine Phase 2
22 Gastrointestinal Agents Phase 2
23 Ophthalmic Solutions Phase 2
24 Immunosuppressive Agents Phase 1, Phase 2
25 Anti-Bacterial Agents Phase 1, Phase 2
26 Antibiotics, Antitubercular Phase 1, Phase 2
27 Immunologic Factors Phase 1, Phase 2
28 Antifungal Agents Phase 1, Phase 2
29 Anti-Infective Agents Phase 1, Phase 2
30
Oseltamivir Approved Phase 1 196618-13-0, 204255-11-8 65028
31
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
32
Aspirin Approved, Vet_approved Phase 1 50-78-2 2244
33 APD791 Investigational Phase 1
34 Antiviral Agents Phase 1
35 Fibrinolytic Agents Phase 1
36 Antirheumatic Agents Phase 1
37 Purinergic P2Y Receptor Antagonists Phase 1
38 Anti-Inflammatory Agents, Non-Steroidal Phase 1
39 Anti-Inflammatory Agents Phase 1
40 Cyclooxygenase Inhibitors Phase 1
41 Platelet Aggregation Inhibitors Phase 1
42 Antipyretics Phase 1
43 Analgesics Phase 1
44 Analgesics, Non-Narcotic Phase 1
45
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
46
Ceftazidime Approved 72558-82-8, 78439-06-2 5481173
47
Vancomycin Approved 1404-90-6 441141 14969
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 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
2 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
3 The Clinical Effects of Korean Adapted APD in Automated Peritoneal Dialysis Patients Completed NCT01997385 Phase 4
4 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
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 a Supervised Inpatient Setting Completed NCT01552603 Phase 2
12 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
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 14a, Autosomal Dominant

Genetic Tests for Immunodeficiency 14a, Autosomal Dominant

Anatomical Context for Immunodeficiency 14a, Autosomal Dominant

MalaCards organs/tissues related to Immunodeficiency 14a, Autosomal Dominant:

40
T Cells, B Cells, Eye, Myeloid

Publications for Immunodeficiency 14a, Autosomal Dominant

Articles related to Immunodeficiency 14a, Autosomal Dominant:

(show all 41)
# 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. 6 57
24136356 2013
4
Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology. 57 6
16984281 2006
5
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. 6 61
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
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 6
27076228 2016
12
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. 6
27221134 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
A human immunodeficiency caused by mutations in the PIK3R1 gene. 6
25133428 2014
21
PIK3R1 mutations in SHORT syndrome. 6
23980586 2014
22
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 6
24886349 2014
23
Mutations in PIK3R1 cause SHORT syndrome. 6
23810382 2013
24
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. 6
23810379 2013
25
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 6
23810378 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
Endoscopic airway manifestations in a pediatric patient with activated PI3K-delta syndrome. 61
32969594 2020
30
Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency. 61
32349894 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
PI3K Orchestrates T Follicular Helper Cell Differentiation in a Context Dependent Manner: Implications for Autoimmunity. 61
30666254 2018
38
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
39
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. 61
27847301 2017
40
Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1. 61
28167755 2017
41
The Selective Phosphoinoside-3-Kinase p110δ Inhibitor IPI-3063 Potently Suppresses B Cell Survival, Proliferation, and Differentiation. 61
28713374 2017

Variations for Immunodeficiency 14a, Autosomal Dominant

ClinVar genetic disease variations for Immunodeficiency 14a, Autosomal Dominant:

6 (show top 50) (show all 291)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
2 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
3 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>G SNV Pathogenic 446498 rs1554051075 GRCh37: 5:67589664-67589664
GRCh38: 5:68293836-68293836
4 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
5 PIK3R1 NM_181523.3(PIK3R1):c.1425+2_1425+3del Deletion Pathogenic 446499 rs1554051067 GRCh37: 5:67589663-67589664
GRCh38: 5:68293835-68293836
6 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>A SNV Pathogenic 446497 rs1554051075 GRCh37: 5:67589664-67589664
GRCh38: 5:68293836-68293836
7 PIK3R1 NM_181523.3(PIK3R1):c.1300-1G>C SNV Pathogenic 446500 rs1554051033 GRCh37: 5:67589536-67589536
GRCh38: 5:68293708-68293708
8 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) Duplication Pathogenic 571336 rs1561299903 GRCh37: 5:67591115-67591116
GRCh38: 5:68295287-68295288
9 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
10 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV Pathogenic 376258 rs1057519838 GRCh37: 5:67589618-67589618
GRCh38: 5:68293790-68293790
11 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
12 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs) Deletion Pathogenic 648899 rs1580260232 GRCh37: 5:67588135-67588135
GRCh38: 5:68292307-68292307
13 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
14 PIK3R1 NM_181523.3(PIK3R1):c.1404_1425+4del Deletion Pathogenic 935112 GRCh37: 5:67589638-67589663
GRCh38: 5:68293810-68293835
15 PIK3CD NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) SNV Pathogenic 88675 rs397518423 GRCh37: 1:9787030-9787030
GRCh38: 1:9726972-9726972
16 PIK3CD NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) SNV Pathogenic 132806 rs28730670 GRCh37: 1:9777666-9777666
GRCh38: 1:9717608-9717608
17 PIK3CD NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132807 rs587777389 GRCh37: 1:9780851-9780851
GRCh38: 1:9720793-9720793
18 PIK3CD NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) SNV Pathogenic 132808 rs587777390 GRCh37: 1:9779982-9779982
GRCh38: 1:9719924-9719924
19 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 60763 rs397515453 GRCh37: 5:67592129-67592129
GRCh38: 5:68296301-68296301
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 PIK3CD NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) SNV Likely pathogenic 935418 GRCh37: 1:9787040-9787040
GRCh38: 1:9726982-9726982
22 PIK3R1 NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) Deletion Likely pathogenic 998150 GRCh37: 5:67589576-67589576
GRCh38: 5:68293748-68293748
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.1462A>G (p.Asn488Asp) SNV Uncertain significance 859537 GRCh37: 5:67590400-67590400
GRCh38: 5:68294572-68294572
25 PIK3R1 NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) Deletion Uncertain significance 861979 GRCh37: 5:67592103-67592113
GRCh38: 5:68296275-68296285
26 PIK3R1 NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) SNV Uncertain significance 863370 GRCh37: 5:67576468-67576468
GRCh38: 5:68280640-68280640
27 PIK3R1 NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) SNV Uncertain significance 624051 rs148059720 GRCh37: 5:67575490-67575490
GRCh38: 5:68279662-68279662
28 PIK3R1 NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) SNV Uncertain significance 834213 GRCh37: 5:67576473-67576473
GRCh38: 5:68280645-68280645
29 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) SNV Uncertain significance 835242 GRCh37: 5:67575441-67575441
GRCh38: 5:68279613-68279613
30 PIK3R1 NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) SNV Uncertain significance 841166 GRCh37: 5:67576443-67576443
GRCh38: 5:68280615-68280615
31 PIK3R1 NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) SNV Uncertain significance 843492 GRCh37: 5:67522760-67522760
GRCh38: 5:68226932-68226932
32 PIK3R1 NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) SNV Uncertain significance 846266 GRCh37: 5:67522754-67522754
GRCh38: 5:68226926-68226926
33 PIK3R1 NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) SNV Uncertain significance 847379 GRCh37: 5:67593422-67593422
GRCh38: 5:68297594-68297594
34 PIK3R1 NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) SNV Uncertain significance 848444 GRCh37: 5:67590446-67590446
GRCh38: 5:68294618-68294618
35 PIK3R1 NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) SNV Uncertain significance 849630 GRCh37: 5:67592028-67592028
GRCh38: 5:68296200-68296200
36 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>T SNV Uncertain significance 849969 GRCh37: 5:67589527-67589527
GRCh38: 5:68293699-68293699
37 PIK3R1 NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) SNV Uncertain significance 851179 GRCh37: 5:67569231-67569231
GRCh38: 5:68273403-68273403
38 PIK3R1 NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) SNV Uncertain significance 853571 GRCh37: 5:67522835-67522835
GRCh38: 5:68227007-68227007
39 PIK3R1 NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) SNV Uncertain significance 855460 GRCh37: 5:67569230-67569230
GRCh38: 5:68273402-68273402
40 PIK3R1 NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) SNV Uncertain significance 855725 GRCh37: 5:67576407-67576407
GRCh38: 5:68280579-68280579
41 PIK3R1 NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) SNV Uncertain significance 856837 GRCh37: 5:67576397-67576397
GRCh38: 5:68280569-68280569
42 PIK3R1 NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) SNV Uncertain significance 857677 GRCh37: 5:67569824-67569824
GRCh38: 5:68273996-68273996
43 PIK3R1 NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) Microsatellite Uncertain significance 950410 GRCh37: 5:67593262-67593263
GRCh38: 5:68297434-68297435
44 PIK3R1 NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) SNV Uncertain significance 951482 GRCh37: 5:67522703-67522703
GRCh38: 5:68226875-68226875
45 PIK3R1 NM_181523.3(PIK3R1):c.334+4_334+9del Deletion Uncertain significance 961973 GRCh37: 5:67522841-67522846
GRCh38: 5:68227013-68227018
46 PIK3R1 NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) SNV Uncertain significance 964329 GRCh37: 5:67593386-67593386
GRCh38: 5:68297558-68297558
47 PIK3R1 NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) SNV Uncertain significance 967011 GRCh37: 5:67575480-67575480
GRCh38: 5:68279652-68279652
48 PIK3R1 NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) SNV Uncertain significance 968750 GRCh37: 5:67592045-67592045
GRCh38: 5:68296217-68296217
49 PIK3R1 NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) SNV Uncertain significance 969295 GRCh37: 5:67569282-67569282
GRCh38: 5:68273454-68273454
50 PIK3R1 NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter) SNV Uncertain significance 982699 GRCh37: 5:67576382-67576382
GRCh38: 5:68280554-68280554

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 14a, Autosomal Dominant:

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

Expression for Immunodeficiency 14a, Autosomal Dominant

Search GEO for disease gene expression data for Immunodeficiency 14a, Autosomal Dominant.

Pathways for Immunodeficiency 14a, Autosomal Dominant

Pathways related to Immunodeficiency 14a, Autosomal Dominant 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 14a, Autosomal Dominant according to GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 PTEN PIK3R1 PIK3CD
2
Show member pathways
13.09 PTEN PIK3R1 PIK3CD
3
Show member pathways
13.07 PTEN PIK3R1 PIK3CD
4
Show member pathways
12.83 PTEN PIK3R1 PIK3CD
5
Show member pathways
12.79 PTEN PIK3R1 PIK3CD
6
Show member pathways
12.71 PTEN PIK3R1 PIK3CD
7
Show member pathways
12.63 PTEN PIK3R1 PIK3CD
8
Show member pathways
12.6 PTEN PIK3R1 PIK3CD
9
Show member pathways
12.59 PTEN PIK3R1 PIK3CD
10
Show member pathways
12.59 PTEN PIK3R1 PIK3CD
11 12.57 PTEN PIK3R1 PIK3CD
12
Show member pathways
12.53 PTEN PIK3R1 PIK3CD
13
Show member pathways
12.51 PTEN PIK3R1 PIK3CD
14
Show member pathways
12.5 PTEN PIK3R1 PIK3CD
15
Show member pathways
12.47 PTEN PIK3R1 PIK3CD
16
Show member pathways
12.45 PTEN PIK3R1 PIK3CD
17
Show member pathways
12.41 PTEN PIK3R1 PIK3CD
18
Show member pathways
12.37 PTEN PIK3R1 PIK3CD
19
Show member pathways
12.34 PTEN PIK3R1 PIK3CD
20
Show member pathways
12.32 PTEN PIK3R1 PIK3CD
21 12.27 PTEN PIK3R1 PIK3CD
22
Show member pathways
12.25 PTEN PIK3R1 PIK3CD
23
Show member pathways
12.22 PTEN PIK3R1 PIK3CD
24
Show member pathways
12.21 PTEN PIK3R1 PIK3CD
25
Show member pathways
12.19 PTEN PIK3R1 PIK3CD
26
Show member pathways
12.18 PIK3R1 PIK3CD
27
Show member pathways
12.12 PTEN PIK3R1 PIK3CD
28 12.11 PIK3R1 PIK3CD
29
Show member pathways
12.11 PIK3R1 PIK3CD
30
Show member pathways
12.1 PIK3R1 PIK3CD
31
Show member pathways
12.1 PTEN PIK3R1 PIK3CD
32
Show member pathways
12.09 PTEN PIK3R1
33
Show member pathways
12.09 PIK3R1 PIK3CD
34 12.08 PIK3R1 PIK3CD
35 12.08 PIK3R1 PIK3CD
36
Show member pathways
12.05 PIK3R1 PIK3CD
37
Show member pathways
12.04 PIK3R1 PIK3CD
38 12.04 PTEN PIK3R1 PIK3CD
39 12.03 PIK3R1 PIK3CD
40
Show member pathways
12 PIK3R1 PIK3CD
41
Show member pathways
11.99 PIK3R1 PIK3CD
42 11.98 PTEN PIK3R1
43
Show member pathways
11.97 PIK3R1 PIK3CD
44
Show member pathways
11.97 PTEN PIK3R1 PIK3CD
45
Show member pathways
11.96 PIK3R1 PIK3CD
46
Show member pathways
11.95 PTEN PIK3R1 PIK3CD
47
Show member pathways
11.94 PIK3R1 PIK3CD
48
Show member pathways
11.93 PIK3R1 PIK3CD
49 11.91 PIK3R1 PIK3CD
50 11.91 PIK3R1 PIK3CD

GO Terms for Immunodeficiency 14a, Autosomal Dominant

Cellular components related to Immunodeficiency 14a, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3R1 PIK3CD

Biological processes related to Immunodeficiency 14a, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.46 PTEN PIK3R1
2 positive regulation of protein kinase B signaling GO:0051897 9.43 PIK3R1 PIK3CD
3 T cell receptor signaling pathway GO:0050852 9.4 PIK3R1 PIK3CD
4 cellular response to insulin stimulus GO:0032869 9.37 PTEN PIK3R1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.32 PIK3R1 PIK3CD
6 phosphatidylinositol phosphorylation GO:0046854 9.26 PIK3R1 PIK3CD
7 phosphatidylinositol-mediated signaling GO:0048015 9.16 PIK3R1 PIK3CD
8 phosphatidylinositol biosynthetic process GO:0006661 9.13 PTEN PIK3R1 PIK3CD
9 phosphatidylinositol 3-kinase signaling GO:0014065 8.8 PTEN PIK3R1 PIK3CD

Sources for Immunodeficiency 14a, Autosomal Dominant

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