ALPS5
MCID: ATM082
MIFTS: 54

Autoimmune Lymphoproliferative Syndrome, Type V (ALPS5)

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type V

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type V:

Name: Autoimmune Lymphoproliferative Syndrome, Type V 56 52 29 6 39 71
Chai 56 52 58
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 52 58
Ctla-4 Haploinsufficiency with Autoimmune Infiltration Disease 52 58
Ctla4 Haploinsufficiency with Autoimmune Infiltration 56 52
Autoimmune Lymphoproliferative Syndrome Type V 52 73
Autoimmune Lymphoproliferative Syndrome 5 73 29
Alps Due to Ctla4 Haploinsuffiency 52 58
Alps5 56 73
Ctla4 Haploinsufficiency with Autoimmune Infiltration; Chai 56
Autoimmune Lymphoproliferative Syndrome Type 5 52
Lymphoproliferative Disorders 71
Alps Type 5 52
Alps Type V 52

Characteristics:

Orphanet epidemiological data:

58
autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

56
Miscellaneous:
incomplete penetrance
variable age at onset (childhood to adulthood)

Inheritance:
autosomal dominant


HPO:

31
autoimmune lymphoproliferative syndrome, type v:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


Summaries for Autoimmune Lymphoproliferative Syndrome, Type V

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 436159 Definition A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. Visit the Orphanet disease page for more resources.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type V, also known as chai, is related to acute pancreatitis and liver disease, and has symptoms including diarrhea An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type V is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. The drugs Mycophenolic acid and Azathioprine have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and lung, and related phenotypes are splenomegaly and hepatomegaly

OMIM : 56 Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement (summary by Kuehn et al., 2014). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859. (616100)

UniProtKB/Swiss-Prot : 73 Autoimmune lymphoproliferative syndrome 5: An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood.

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type V

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3

Diseases related to Autoimmune Lymphoproliferative Syndrome, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 acute pancreatitis 10.4
2 liver disease 10.4
3 adult acute lymphocytic leukemia 10.3 TNFRSF8 CD5
4 histiocytosis 10.3 TNFRSF8 ALK
5 alk-positive anaplastic large cell lymphoma 10.3 TNFRSF8 ALK
6 hypercholesterolemia, familial, 1 10.2
7 panniculitis 10.2 TNFRSF8 TIA1
8 pleural lipoma 10.2 TNFRSF8 ALK
9 parapsoriasis 10.2 TNFRSF8 CD5
10 lung non-squamous non-small cell carcinoma 10.2 CTLA4 ALK
11 mediastinal cancer 10.2 TNFRSF8 CD5
12 non-alcoholic steatohepatitis 10.2
13 hepatitis b 10.2
14 pancreatitis 10.2
15 lethal midline granuloma 10.1 TNFRSF8 TIA1
16 primary cutaneous anaplastic large cell lymphoma 10.1 TIA1 ALK
17 thymus gland disease 10.1 CTLA4 CD5
18 lymphoplasmacytic lymphoma 10.0 IGH CD5
19 pericardial effusion 10.0 TNFRSF8 ALK
20 hepatocellular carcinoma 10.0
21 renal cell carcinoma, nonpapillary 10.0
22 microvascular complications of diabetes 3 10.0
23 microvascular complications of diabetes 4 10.0
24 microvascular complications of diabetes 6 10.0
25 microvascular complications of diabetes 7 10.0
26 membranous nephropathy 10.0
27 hereditary lymphedema i 10.0
28 non-alcoholic fatty liver disease 10.0
29 bacterial infectious disease 10.0
30 nephrotic syndrome 10.0
31 esophagitis 10.0
32 diarrhea 10.0
33 cholestasis 10.0
34 dental fluorosis 10.0
35 familial hypercholesterolemia 10.0
36 peptic esophagitis 10.0
37 viral hepatitis 10.0
38 cholecystitis 10.0
39 mood disorder 10.0
40 plague 10.0
41 liver cirrhosis 10.0
42 t-cell lymphoblastic leukemia/lymphoma 10.0
43 gastrointestinal system disease 10.0
44 fatty liver disease 10.0
45 postpartum depression 10.0
46 cluster headache 10.0
47 leukemia, t-cell, chronic 10.0
48 headache 10.0
49 aggressive nk-cell leukemia 10.0 TIA1 CD5
50 nodular lymphocyte predominant hodgkin lymphoma 10.0 TNFRSF8 BCL6

Graphical network of the top 20 diseases related to Autoimmune Lymphoproliferative Syndrome, Type V:



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type V

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type V

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type V:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 hepatomegaly 31 very rare (1%) HP:0002240
3 arthritis 31 very rare (1%) HP:0001369
4 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
5 psoriasiform dermatitis 31 very rare (1%) HP:0003765
6 lymphopenia 31 very rare (1%) HP:0001888
7 sepsis 31 very rare (1%) HP:0100806
8 eczema 31 very rare (1%) HP:0000964
9 lymphadenopathy 31 very rare (1%) HP:0002716
10 diarrhea 31 very rare (1%) HP:0002014
11 bronchiectasis 31 very rare (1%) HP:0002110
12 decreased circulating iga level 31 very rare (1%) HP:0002720
13 decreased circulating igg level 31 very rare (1%) HP:0004315
14 decreased circulating total igm 31 very rare (1%) HP:0002850
15 autoimmune hemolytic anemia 31 very rare (1%) HP:0001890
16 autoimmune thrombocytopenia 31 very rare (1%) HP:0001973
17 crohn's disease 31 very rare (1%) HP:0100280
18 chronic atrophic gastritis 31 very rare (1%) HP:0002582
19 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
20 allergy 31 very rare (1%) HP:0012393
21 immunodeficiency 31 HP:0002721
22 lymphocytic infiltration of the colorectal mucosa 31 HP:0032216

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
recurrent infections (in some patients)
hypogammaglobulinemia
autoantibodies
decreased memory b cells
more
Hematology:
autoimmune hemolytic anemia
autoimmune thrombocytopenia

Skin Nails Hair Skin:
eczema (in some patients)
psoriasis (in some patients)

Respiratory Lung:
granulomatous lymphocytic interstitial lung disease

Neurologic Central Nervous System:
lymphocytic infiltration of the brain

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
diarrhea
lymphocytic enteropathy

Endocrine Features:
autoimmune thyroiditis

Respiratory:
recurrent upper respiratory infections (in some patients)

Skeletal:
autoimmune arthritis

Clinical features from OMIM:

616100

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type V:


diarrhea

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type V

Drugs for Autoimmune Lymphoproliferative Syndrome, Type V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 229)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4 24280-93-1 446541
2
Azathioprine Approved Phase 4 446-86-6 2265
3 Immunologic Factors Phase 4
4 Antirheumatic Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Immunosuppressive Agents Phase 4
7 Antimetabolites Phase 4
8 Hematinics Phase 4
9 Epoetin alfa Phase 4 113427-24-0
10 Anti-Bacterial Agents Phase 4
11 Antibiotics, Antitubercular Phase 4
12 Antitubercular Agents Phase 4
13
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
14
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
15
Amitriptyline Approved Phase 3 50-48-6 2160
16
Perphenazine Approved Phase 3 58-39-9 4748
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
19
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
20
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
21
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
22 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
23
Methoxsalen Approved Phase 3 298-81-7 4114
24
Darbepoetin alfa Approved, Investigational Phase 3 11096-26-7, 209810-58-2
25
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
26
Pancrelipase Approved, Investigational Phase 3 53608-75-6
27
Blinatumomab Approved, Investigational Phase 3 853426-35-4
28
rituximab Approved Phase 3 174722-31-7 10201696
29
Etoposide Approved Phase 3 33419-42-0 36462
30
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
31
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
32
Melphalan Approved Phase 3 148-82-3 460612 4053
33
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
34
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
35
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799
36
Carmustine Approved, Investigational Phase 3 154-93-8 2578
37
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
38
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
39
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
40
Cobalamin Experimental Phase 3 13408-78-1 6857388
41 Antilymphocyte Serum Phase 3
42 Cyclosporins Phase 2, Phase 3
43 Ferric Oxide, Saccharated Phase 3
44 Gastrointestinal Agents Phase 2, Phase 3
45 Hemostatics Phase 3
46 Antiemetics Phase 2, Phase 3
47 Excitatory Amino Acid Antagonists Phase 3
48 Antidepressive Agents Phase 3
49 Adrenergic Agents Phase 3
50 GABA Agonists Phase 3

Interventional clinical trials:

(show top 50) (show all 300)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Immune Response After Vaccination Against Hepatitis B in Patients With Indolent Lymphoproliferative Disorders With no Treatment. Unknown status NCT01698866 Phase 4
2 Safety, Immunogenicity And Efficacy Of Vaccination In Military Personnel Completed NCT01807780 Phase 4
3 Quality of Life Related Response to Treatment in Anemic Cancer Patients Receiving Recormon and Efficacy of the Drug Dosage 30,000 IU Once Weekly in Patients With Lymphoproliferative Disorders Completed NCT00776425 Phase 4 Epoetin beta
4 A Single-arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Hodgkin Lymphoma Who Are Not Suitable for Stem Cell Transplantation or Multiagent Chemotherapy Completed NCT01990534 Phase 4 Brentuximab vedotin
5 Fludarabine, Cyclophosphamide, Doxorubicin and Rituximab for the Treatment of Post-transplant Lymphoproliferative Disease (PTLD) Completed NCT01088724 Phase 4 fludarabine, cyclophosphamide, doxorubicin, rituximab
6 A Randomized, Prospective, Multicenter Trial to Compare the Effect on Chronic Allograft Nephropathy Prevention of Mycophenolate Mofetil Versus Azathioprine as the Sole Immunosuppressive Therapy for Kidney Transplant Recipients Completed NCT00494741 Phase 4 mycophenolate mofetil;azathioprine
7 A Multi-Center, Open-Labelled, Pralatrexate Study in Asian Patients With Peripheral T-cell Lymphoma After Prior Therapy Recruiting NCT03150602 Phase 4 Pralatrexate
8 Randomised Controlled Open-label Study to Evaluate Efficacy & Safety of Intravenous Ferric Carboxymaltose Versus no Treatment in Anaemic Subjects With Multiple Myeloma & Iron Restricted Erythropoiesis Receiving Chemotherapy Terminated NCT01100879 Phase 4 Ferric carboxymaltose
9 Cytotoxic T Cell Therapy for Post Transplant Lymphoproliferative Disease: Randomized Controlled Trial in Transplant Recipients Unknown status NCT00033475 Phase 3
10 Evaluation of Plasmatic Levels of Busulfan in Patients Undergoing Hematopoietic Stem Cell Transplantation Unknown status NCT01800643 Phase 2, Phase 3
11 Multi-Centre Prospective Randomized Study on the Use of Two Different Doses of Rabbit Anti-Thymocyte Globulin for GVHD Prevention in Paediatric Patients With Haematological Malignancies Given an Unrelated Donor Haematopoietic Stem Cell Transplantation Unknown status NCT00934557 Phase 3 ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius
12 Phase 3 Study of Recombinant Erythropoetin and Adjuvant I.V. Iron Therapy of Anemic Patients With Lymphoproliferative Disorders Completed NCT00145652 Phase 3 Neo-Recormon and Venofer
13 Randomized Study for Comparison of Reduced Intensity Conditioning Protocols Containing Either Thymoglobuline or Alemtuzumab in Patients Undergoing Allogeneic Transplant From Voluntary Unrelated Donors Completed NCT00354120 Phase 2, Phase 3 Alentuzumab;Globulina antilinfocitaria
14 Predictive Value of the "Cytocapacity Test" Following a Single-dose of rHu-G-CSF in Patients With Lymphoproliferative Diseases and High-dose Therapy Completed NCT01085058 Phase 2, Phase 3 lenograstim
15 A Phase III, Randomized Study Of Two Different Dosing Schedules Of Erythropoetin In Anemic Patients With Cancer Completed NCT00058331 Phase 3
16 The Use of Topical Baclofen, Amitriptyline HCI, and Ketamine (BAK) in a PLO Gel vs. Placebo for the Treatment of Chemotherapy Induced Peripheral Neuropathy: A Phase III Randomized Double-Blind Placebo Controlled Study Completed NCT00516503 Phase 3 baclofen/amitriptyline/ketamine gel
17 Randomised Controlled Open-label Study to Evaluate Efficacy & Safety of Intravenous Ferric Carboxymaltose Versus no Treatment in Anaemic Subjects With Lymphoid Malignancies & Functional Iron Deficiency Receiving Chemotherapy Completed NCT01101399 Phase 3 Ferric carboxymaltose
18 An International, Multicenter, Randomized, Double-Blind Study of Vorinostat (MK0683) or Placebo in Combination With Bortezomib in Patients With Multiple Myeloma Completed NCT00773747 Phase 3 vorinostat;bortezomib;placebo to vorinostat
19 A Double-Blind Study Of Nutritional Intervention For The Treatment Of Cancer Cachexia Using Juven® Nutritional Supplement Completed NCT00053053 Phase 3
20 A Multi-center, Randomized Study on Oral 8-methoxypsoralen Plus UVA With or Without Maintenance Therapy in Mycosis Fungoides EORTC/ISCL Stage IA to IIB Completed NCT01686594 Phase 3 8-methoxypsoralen
21 The Unrelated Donor Marrow Transplantation Trial Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
22 A Randomized, Open-Label, Multicenter Study Of Darbepoetin Alfa Administered Once Every Two Weeks (Q2W) Compared With rHuEPO Administered Once Every Week (QW) For The Treatment Of Anemia In Subjects With Non-Myeloid Malignancies Receiving Multiple Chemotherapy Completed NCT00070382 Phase 3 darbepoetin alfa;epoetin alfa
23 A Phase III, Randomized Study of the Effects of Parenteral Iron, Oral Iron, or No Iron Supplementation on the Erythropoietic Response to Darbepoetin Alfa for Cancer Patients With Chemotherapy-Associated Anemia Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
24 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
25 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
26 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
27 Open-label Extension Study With Tadekinig Alfa (r-hIL-18BP) to Monitor Safety and Tolerability in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03512314 Phase 3 Tadekinig alfa
28 Multicenter, Double-blind, Placebo-controlled, Randomized Withdrawal Trial With Tadekinig Alfa (r-hIL-18BP) in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa
29 Multicenter, Open Label, Phase 3 Study of Tabelecleucel for Solid Organ or Allogeneic Hematopoietic Cell Transplant Subjects With Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disease After Failure of Rituximab or Rituximab and Chemotherapy Recruiting NCT03394365 Phase 3
30 Multicenter, Open-Label, Phase 3 Study of Tabelecleucel for Allogeneic Hematopoietic Cell Transplant Subjects With Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disease After Failure of Rituximab Recruiting NCT03392142 Phase 3
31 Phase III Multicenter Open-label Randomized Clinical Trial Comparing Everolimus and Low Dose Tacrolimus to Tacrolimus and Mycophenolate Mofetil at 6 mo Post-Transplant to Prevent Long-term Complications After Pediatric Heart Transplantation Recruiting NCT03386539 Phase 3 Everolimus;Tacrolimus;Mycophenolate Mofetil
32 Phase 3 Trial to Investigate the Efficacy, Safety, and Tolerability of Blinatumomab as Consolidation Therapy Versus Conventional Consolidation Chemotherapy in Pediatric Subjects With HR First Relapse B-precursor ALL Active, not recruiting NCT02393859 Phase 3 Blinatumomab;Conventional Consolidation Chemotherapy
33 A Multi-center, Randomized, Phase 3 Study of Sequential Pralatrexate Versus Observation in Patients With Previously Undiagnosed Peripheral T-cell Lymphoma Who Have Achieved an Objective Response Following Initial Treatment With CHOP-based Chemotherapy Terminated NCT01420679 Phase 3 Pralatrexate Injection
34 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
35 A Phase 3 Randomized,Open-Label Study of Ponatinib Versus Imatinib in Adult Patients With Newly Diagnosed Chronic Myeloid Leukemia in Chronic Phase Terminated NCT01650805 Phase 3 ponatinib;imatinib (Gleevec/ Glivec)
36 SPINOZA / שפינוזה. Study With Preparatory INduction Of Zevalin in Aggressive Lymphoma. A Randomized Phase 3 Study of BEAM Versus 90Yttrium Ibritumomab Tiuxetan (Zevalin) / BEAM in Patients Requiring ASCT for Relapsed DLBCL Terminated NCT02366663 Phase 3 Carmustine;Etoposide;Cytarabine;Melphalan
37 Phase II Trial of Rituximab in Patients With B-Cell Lymphoproliferative Disorders Associated With Pharmacologic Immunosuppression Unknown status NCT00003716 Phase 2
38 A Pilot Study to Assess the Feasibility of Unrelated Umbilical Cord Blood Transplantation With Coinfusion of Third-party Mesenchymal Stem Cells After Myeloablative or Nonmyeloablative Conditioning in Patients With Hematological Malignancies Unknown status NCT01092026 Phase 1, Phase 2
39 A Phase II Study of the Therapeutic Effects Of Epstein-Barr Virus Immune T-Lymphocytes Derived From a Normal HLA-Compatible Or Partially-Matched Third-Party Donor in the Treatment of EBV Lymphoproliferative Disorders and EBV-Associated Malignancies Completed NCT01498484 Phase 2
40 A Multicenter Phase II Study Of BMS 247550 (Epothilone B Analogue) In Indolent Lymphoproliferative Disorders Completed NCT00052572 Phase 2 ixabepilone
41 Phase II Study of PS-341 in Low Grade Lymphoproliferative Disorders Completed NCT00023764 Phase 2 bortezomib
42 A Pilot Study of the Combination of Retinoic Acid and Interferon-Alpha2a for the Treatment of Lymphoproliferative Disorders in Children With Immunodeficiency Syndromes Completed NCT00001438 Phase 2 all-trans-retinoic acid with IFN-alpha2a
43 A Phase II Multi-Dose Study of SGN-30 (Anti-CD30 mAb) in Patients With Primary Cutaneous Anaplastic Large Cell Lymphoma, Large Cell Transformation of Mycosis Fungoides, and Lymphomatoid Papulosis Completed NCT00099255 Phase 2 SGN-30
44 A Phase II Study of SGN-40 (Anti-huCD40 mAb) in Patients With Relapsed Diffuse Large B-Cell Lymphoma (DLBCL) Completed NCT00435916 Phase 2 SGN-40
45 An Open-label, Single-arm Phase II Study of RAD001 in Patients With Relapsed/Refractory Classical Hodgkin Lymphoma Completed NCT01022996 Phase 2 Everolimus (RAD001)
46 Open Label Multicenter Study of Eltrombopag for the Treatment of Immune ThrombocytoPenia (ITP) Secondary to Chronic Lymphoproliferative Disorders (LPDs) Completed NCT01610180 Phase 2 Eltrombopag Olamine
47 An Open Label, Multicenter, Exploratory Phase II Study to Evaluate the Efficacy, Safety, and Tolerability of the BiTE® Antibody Blinatumomab in Adult Patients With Relapsed/Refractory B-precursor Acute Lymphoblastic Leukemia (ALL) Completed NCT01209286 Phase 2
48 Phase I/II Study of Allogeneic Stem Cell Transplantation for Patients With Hematologic Malignancy, Using MHC Identical or Near Identical Donors and Sub-Myeloablative Conditioning With CAMPATH 1H (DIMSUM) Completed NCT00048412 Phase 1, Phase 2 FLUDARABINE;CAMPATH 1H;FK50
49 A Phase 1/2, Multi-Dose Study of SGN-40 (Anti-huCD40 mAb) in Patients With Chronic Lymphocytic Leukemia Completed NCT00283101 Phase 1, Phase 2 SGN-40 (anti-huCD40 mAb)
50 Treatment of Patients With Posttransplant Lymphoproliferative Disorder (PTLD) With a Sequential Treatment Consisting of Anti-CD20 Antibody Rituximab and CHOP+GCSF Chemotherapy (PTLD-1/3) Completed NCT00590447 Phase 2 rituximab monotherapy;sequential R-CHOP

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type V

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type V

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type V:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome 5 29
2 Autoimmune Lymphoproliferative Syndrome, Type V 29 CTLA4

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type V

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type V:

40
B Cells, T Cells, Lung, Brain, Bone, Bone Marrow, Liver

Publications for Autoimmune Lymphoproliferative Syndrome, Type V

Articles related to Autoimmune Lymphoproliferative Syndrome, Type V:

(show top 50) (show all 556)
# Title Authors PMID Year
1
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. 6 56
25329329 2014
2
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. 56 6
25213377 2014
3
Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. 56
7481803 1995
4
Estimation of Total Costs in Pediatric and Young Adult Patients with Relapsed or Refractory Acute Lymphoblastic Leukemia Receiving Tisagenlecleucel from a U.S. Hospital's Perspective. 61
32525730 2020
5
Comment on "Effect of Montmorency tart cherry juice on cognitive performance in older adults: a randomized controlled trial" by S. C. Chai, J. Jerusik, K. Davis, R. S. Wright and Z. Zhang, Food Funct., 2019, 10, 4423-4431. 61
32129357 2020
6
Identifying predictors of personal exposure to air temperature in peri-urban India. 61
31863998 2020
7
Association between ambient and household air pollution with carotid intima-media thickness in peri-urban South India: CHAI-Project. 61
31605119 2020
8
Integrated Analysis of the Mechanisms of Da-Chai-Hu Decoction in Type 2 Diabetes Mellitus by a Network Pharmacology Approach. 61
32419835 2020
9
High acceptability and viral suppression of patients on Dolutegravir-based first-line regimens in pilot sites in Uganda: A mixed-methods prospective cohort study. 61
32459822 2020
10
Eastern District (Wan Chai) Dispensary and Plague Hospital. 61
32127511 2019
11
[Corrigendum] CENPE promotes lung adenocarcinoma proliferation and is directly regulated by FOXM1. 61
31545403 2019
12
Xiao Chai Hu Tang, a herbal medicine, for chronic hepatitis B. 61
31697415 2019
13
Metabolic profiles of Xiao Chai Hu Tang in mouse plasma, bile and urine by the UHPLC-ESI-Q-TOF/MS technique. 61
31627161 2019
14
Efficacy and safety of Sihogayonggolmoryeo-tang (Saikokaryukotsuboreito, Chai-Hu-Jia-Long-Gu-Mu-Li-Tang) for post-stroke depression: A systematic review and meta-analysis. 61
31601868 2019
15
Correction: Thermodynamics, kinetics and electronic properties of point defects in β-FeSi2. 61
31552965 2019
16
Correction: Significance of hydrogen bonding networks in the proton-coupled electron transfer reactions of photosystem II from a quantum-mechanics perspective. 61
31552964 2019
17
A rapid HPTLC method to estimate piperine in Ayurvedic formulations. 61
30318249 2019
18
Observational Study on Knowledge and Eating Habits with Respect to Low- and High-FODMAP Foods in Medical Checkup Populations in Japan. 61
31614902 2019
19
The chemokine CXCL1 and its receptor CXCR2 contribute to chronic stress-induced depression in mice. 61
31034777 2019
20
CHAI and MACK-3 as noninvasive indices for nonalcoholic steatohepatitis. 61
31021518 2019
21
Reply to: CHAI and MACK-3 as noninvasive indices for nonalcoholic steatohepatitis. 61
31161724 2019
22
[Corrigendum] CHD1L is associated with poor survival and promotes the proliferation and metastasis of intrahepatic cholangiocarcinoma. 61
31524266 2019
23
Saikosaponin‑D improves fear memory deficits in ovariectomized rats via the action of estrogen receptor‑α in the hippocampus. 61
31115535 2019
24
Prevalence of vertically transmitted Neospora caninum amongst beef cattle in Phayao, Thailand. 61
30822533 2019
25
Program evaluation of an ORS and zinc scale-up program in 8 Nigerian states. 61
31073399 2019
26
Minimally Empirical Double-Hybrid Functionals Trained against the GMTKN55 Database: revDSD-PBEP86-D4, revDOD-PBE-D4, and DOD-SCAN-D4. 61
31136709 2019
27
Investigating tea temperature and content as risk factors for esophageal cancer in an endemic region of Western Kenya: Validation of a questionnaire and analysis of polycyclic aromatic hydrocarbon content. 61
30925281 2019
28
Increasing coverage of pediatric diarrhea treatment in high-burden countries. 61
31131105 2019
29
Modified Da-chai-hu Decoction regulates the expression of occludin and NF-κB to alleviate organ injury in severe acute pancreatitis rats. 61
31171270 2019
30
Antiviral effect of saikosaponin B2 in combination with daclatasvir on NS5A resistance-associated substitutions of hepatitis C virus. 61
30920421 2019
31
Treatment for patients with recurrent fetal losses positive for anti-cardiolipin beta2 glycoprotein I antibody using Sairei-to (Chai-ling-tang) and low-dose aspirin. 61
30515923 2019
32
Large-scale analysis of small RNAs derived from traditional Chinese herbs in human tissues. 61
30238279 2019
33
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Variations for Autoimmune Lymphoproliferative Syndrome, Type V

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type V:

6 (show top 50) (show all 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTLA4 NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter)SNV Pathogenic 475277 rs1357409506 2:204735619-204735619 2:203870896-203870896
2 CTLA4 NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr)SNV Pathogenic 495051 rs1553657430 2:204735611-204735611 2:203870888-203870888
3 CTLA4 NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer)deletion Pathogenic 572851 rs1559591695 2:204735408-204735408 2:203870685-203870685
4 CTLA4 NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)SNV Pathogenic 623475 2:204735615-204735615 2:203870892-203870892
5 CTLA4 NM_005214.5(CTLA4):c.37_53del (p.Leu13fs)deletion Pathogenic 645984 2:204732699-204732715 2:203867976-203867992
6 CTLA4 NM_005214.5(CTLA4):c.81dup (p.Leu28fs)duplication Pathogenic 644629 2:204732740-204732741 2:203868017-203868018
7 CTLA4 NC_000002.12:g.(?_203444868)_(203957883_?)deldeletion Pathogenic 833421 2:204309591-204822606
8 CTLA4 NC_000002.12:g.(?_203866796)_(203959619_?)deldeletion Pathogenic 830454 2:204731519-204824342
9 CTLA4 NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs)insertion Pathogenic 852228 2:204732666-204732667 2:203867943-203867944
10 CTLA4 NM_005214.5(CTLA4):c.260del (p.Ala87fs)deletion Pathogenic 854248 2:204735459-204735459 2:203870736-203870736
11 CTLA4 NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter)SNV Pathogenic 853113 2:204735548-204735548 2:203870825-203870825
12 CTLA4 NM_005214.5(CTLA4):c.458-1G>TSNV Pathogenic 843889 2:204736100-204736100 2:203871377-203871377
13 CTLA4 NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)SNV Pathogenic 161109 rs606231417 2:204735350-204735350 2:203870627-203870627
14 CTLA4 NM_005214.5(CTLA4):c.75del (p.Leu28fs)deletion Pathogenic 161110 rs606231418 2:204732740-204732740 2:203868017-203868017
15 CTLA4 NM_005214.5(CTLA4):c.567+5G>CSNV Pathogenic 161111 rs606231419 2:204736215-204736215 2:203871492-203871492
16 CTLA4 NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter)SNV Pathogenic 161112 rs606231420 2:204732770-204732770 2:203868047-203868047
17 CTLA4 NM_005214.5(CTLA4):c.109+1G>TSNV Pathogenic 161113 rs606231421 2:204732775-204732775 2:203868052-203868052
18 CTLA4 NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp)SNV Likely pathogenic 161114 rs606231422 2:204735407-204735407 2:203870684-203870684
19 CTLA4 NM_005214.5(CTLA4):c.109+1G>ASNV Likely pathogenic 837868 2:204732775-204732775 2:203868052-203868052
20 CTLA4 NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)SNV Likely pathogenic 430905 rs1553657387 2:204735359-204735359 2:203870636-203870636
21 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)SNV Conflicting interpretations of pathogenicity 432079 rs1553657429 2:204735609-204735609 2:203870886-203870886
22 CTLA4 NM_005214.5(CTLA4):c.118G>A (p.Val40Met)SNV Conflicting interpretations of pathogenicity 430906 rs1553657378 2:204735317-204735317 2:203870594-203870594
23 CTLA4 NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg)SNV Uncertain significance 849622 2:204735635-204735635 2:203870912-203870912
24 CTLA4 NM_005214.5(CTLA4):c.531T>A (p.Tyr177Ter)SNV Uncertain significance 834331 2:204736174-204736174 2:203871451-203871451
25 CTLA4 NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln)SNV Uncertain significance 475275 rs138279736 2:204732688-204732688 2:203867965-203867965
26 CTLA4 NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu)SNV Uncertain significance 542071 rs144988077 2:204735525-204735525 2:203870802-203870802
27 CTLA4 NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg)SNV Uncertain significance 542070 rs1553657427 2:204735572-204735572 2:203870849-203870849
28 CTLA4 NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser)SNV Uncertain significance 542072 rs767352102 2:204732669-204732669 2:203867946-203867946
29 CTLA4 NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys)SNV Uncertain significance 576947 rs1559591850 2:204735629-204735629 2:203870906-203870906
30 CTLA4 NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln)SNV Uncertain significance 574111 rs1553657429 2:204735609-204735609 2:203870886-203870886
31 CTLA4 NM_005214.5(CTLA4):c.266A>G (p.Tyr89Cys)SNV Uncertain significance 572284 rs1559591751 2:204735465-204735465 2:203870742-203870742
32 CTLA4 NM_005214.5(CTLA4):c.436_437delinsCT (p.Gly146Leu)indel Uncertain significance 571685 rs1559591863 2:204735635-204735636 2:203870912-203870913
33 CTLA4 NM_005214.5(CTLA4):c.565A>G (p.Met189Val)SNV Uncertain significance 542068 rs199912925 2:204736208-204736208 2:203871485-203871485
34 CTLA4 NM_005214.5(CTLA4):c.457+4A>GSNV Uncertain significance 542069 rs1553657438 2:204735660-204735660 2:203870937-203870937
35 CTLA4 NM_005214.5(CTLA4):c.110_118del (p.Ala37_His39del)deletion Uncertain significance 566522 rs1559591640 2:204735308-204735316 2:203870585-203870593
36 CTLA4 NM_005214.5(CTLA4):c.268A>G (p.Met90Val)SNV Uncertain significance 568653 rs370443546 2:204735467-204735467 2:203870744-203870744
37 CTLA4 NM_005214.5(CTLA4):c.422T>C (p.Leu141Pro)SNV Uncertain significance 572283 rs1357774202 2:204735621-204735621 2:203870898-203870898
38 CTLA4 NM_005214.5(CTLA4):c.309C>T (p.Cys103=)SNV Uncertain significance 852348 2:204735508-204735508 2:203870785-203870785
39 CTLA4 NM_005214.5(CTLA4):c.567+1G>ASNV Uncertain significance 475279 rs1553657487 2:204736211-204736211 2:203871488-203871488
40 CTLA4 NM_005214.5(CTLA4):c.374G>A (p.Gly125Glu)SNV Uncertain significance 475276 rs1553657428 2:204735573-204735573 2:203870850-203870850
41 CTLA4 NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg)SNV Uncertain significance 837696 2:204732727-204732727 2:203868004-203868004
42 CTLA4 NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser)SNV Uncertain significance 855611 2:204732759-204732759 2:203868036-203868036
43 CTLA4 NM_005214.5(CTLA4):c.211G>T (p.Val71Leu)SNV Uncertain significance 839887 2:204735410-204735410 2:203870687-203870687
44 CTLA4 NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser)SNV Uncertain significance 643372 2:204735372-204735372 2:203870649-203870649
45 CTLA4 NM_005214.5(CTLA4):c.257C>T (p.Ala86Val)SNV Uncertain significance 661941 2:204735456-204735456 2:203870733-203870733
46 CTLA4 NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg)SNV Uncertain significance 644256 2:204735551-204735551 2:203870828-203870828
47 CTLA4 NM_005214.5(CTLA4):c.384C>G (p.Ile128Met)SNV Uncertain significance 662956 2:204735583-204735583 2:203870860-203870860
48 CTLA4 NM_005214.5(CTLA4):c.394G>A (p.Glu132Lys)SNV Uncertain significance 662200 2:204735593-204735593 2:203870870-203870870
49 CTLA4 NM_005214.5(CTLA4):c.487C>G (p.Leu163Val)SNV Uncertain significance 641644 2:204736130-204736130 2:203871407-203871407
50 CTLA4 NM_005214.5(CTLA4):c.117C>T (p.His39=)SNV Likely benign 723894 2:204735316-204735316 2:203870593-203870593

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type V:

73
# Symbol AA change Variation ID SNP ID
1 CTLA4 p.Arg70Trp VAR_072681 rs606231422

Expression for Autoimmune Lymphoproliferative Syndrome, Type V

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome, Type V.

Pathways for Autoimmune Lymphoproliferative Syndrome, Type V

Pathways related to Autoimmune Lymphoproliferative Syndrome, Type V according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 TRB CTLA4 ALK
2 11.44 TNFRSF8 SH2D1A CTLA4 BCL6
3 10.45 TRB CTLA4

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type V

Biological processes related to Autoimmune Lymphoproliferative Syndrome, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell costimulation GO:0031295 8.62 CTLA4 CD5

Sources for Autoimmune Lymphoproliferative Syndrome, Type V

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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68 SNOMED-CT via HPO
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