ALPS5
MCID: ATM082
MIFTS: 43

Autoimmune Lymphoproliferative Syndrome, Type V (ALPS5)

Categories: Blood diseases, Cancer 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 57 20 39 70
Autoimmune Lymphoproliferative Syndrome Type V 20 72 29 6
Chai 57 20 58
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 20 58
Ctla-4 Haploinsufficiency with Autoimmune Infiltration Disease 20 58
Ctla4 Haploinsufficiency with Autoimmune Infiltration 57 20
Alps Due to Ctla4 Haploinsuffiency 20 58
Alps5 57 72
Ctla4 Haploinsufficiency with Autoimmune Infiltration; Chai 57
Autoimmune Lymphoproliferative Syndrome Type 5 20
Autoimmune Lymphoproliferative Syndrome 5 72
Lymphoproliferative Disorders 70
Alps Type 5 20
Alps Type V 20

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®:

57 (Updated 05-Apr-2021)
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

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type V, also known as autoimmune lymphoproliferative syndrome type v, is related to pancreatitis and acute pancreatitis, and has symptoms including diarrhea An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type V is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4). The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include t cells, lung and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

GARD : 20 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.

UniProtKB/Swiss-Prot : 72 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 all 45)
# Related Disease Score Top Affiliating Genes
1 pancreatitis 10.2
2 acute pancreatitis 10.2
3 hypercholesterolemia, familial, 1 10.1
4 non-alcoholic steatohepatitis 10.1
5 hepatitis b 10.1
6 liver disease 10.1
7 stroke, ischemic 10.0
8 fatty liver disease 10.0
9 depression 10.0
10 atherosclerosis susceptibility 9.8
11 hepatocellular carcinoma 9.8
12 type 2 diabetes mellitus 9.8
13 renal cell carcinoma, nonpapillary 9.8
14 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
15 microvascular complications of diabetes 3 9.8
16 microvascular complications of diabetes 4 9.8
17 microvascular complications of diabetes 6 9.8
18 microvascular complications of diabetes 7 9.8
19 membranous nephropathy 9.8
20 proteinuria, chronic benign 9.8
21 hereditary lymphedema i 9.8
22 non-alcoholic fatty liver disease 9.8
23 bacterial infectious disease 9.8
24 nephrotic syndrome 9.8
25 esophagitis 9.8
26 diarrhea 9.8
27 cholestasis 9.8
28 dental fluorosis 9.8
29 familial hypercholesterolemia 9.8
30 peptic esophagitis 9.8
31 hepatitis c 9.8
32 viral hepatitis 9.8
33 cholecystitis 9.8
34 hepatitis 9.8
35 lipid metabolism disorder 9.8
36 mood disorder 9.8
37 plague 9.8
38 liver cirrhosis 9.8
39 t-cell lymphoblastic leukemia/lymphoma 9.8
40 gastrointestinal system disease 9.8
41 diabetes mellitus 9.8
42 postpartum depression 9.8
43 cluster headache 9.8
44 leukemia, t-cell, chronic 9.8
45 headache 9.8

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 lymphopenia 31 very rare (1%) HP:0001888
6 sepsis 31 very rare (1%) HP:0100806
7 eczema 31 very rare (1%) HP:0000964
8 diarrhea 31 very rare (1%) HP:0002014
9 lymphadenopathy 31 very rare (1%) HP:0002716
10 bronchiectasis 31 very rare (1%) HP:0002110
11 psoriasiform dermatitis 31 very rare (1%) HP:0003765
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®:

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

Abdomen Gastrointestinal:
diarrhea
lymphocytic enteropathy

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

Immunology:
lymphadenopathy
recurrent infections (in some patients)
hypogammaglobulinemia
autoantibodies
decreased memory b cells
more
Endocrine Features:
autoimmune thyroiditis

Respiratory:
recurrent upper respiratory infections (in some patients)

Skeletal:
autoimmune arthritis

Clinical features from OMIM®:

616100 (Updated 05-Apr-2021)

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 161)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Epoetin alfa Phase 4 113427-24-0
2 Hematinics Phase 4
3
rituximab Approved Phase 3 174722-31-7 10201696
4
Iron Approved Phase 3 7439-89-6 23925 29936
5
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
6
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
7
Amitriptyline Approved Phase 3 50-48-6 2160
8
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
9
Baclofen Approved Phase 3 1134-47-0 2284
10
Perphenazine Approved Phase 3 58-39-9 4748
11
Pancrelipase Approved, Investigational Phase 3 53608-75-6
12
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
13
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
14
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
15 Ferric Oxide, Saccharated Phase 3
16 Neurotransmitter Agents Phase 3
17 Psychotropic Drugs Phase 3
18 Antipsychotic Agents Phase 3
19 Adjuvants, Immunologic Phase 2, Phase 3
20 Analgesics Phase 3
21 ferric gluconate Phase 3
22 Iron Supplement Phase 3
23 Anesthetics Phase 3
24 Anesthetics, Intravenous Phase 3
25 Anesthetics, General Phase 3
26 Antidepressive Agents Phase 3
27 Excitatory Amino Acid Antagonists Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Amitriptyline, perphenazine drug combination Phase 3
30 GABA Agonists Phase 3
31 Adrenergic Agents Phase 3
32 Anesthetics, Dissociative Phase 3
33 Antidepressive Agents, Tricyclic Phase 3
34 Liver Extracts Phase 3
35 Pharmaceutical Solutions Phase 3
36 polysaccharide-K Phase 3
37 pancreatin Phase 3
38 Thymoglobulin Phase 2, Phase 3
39
Gemcitabine Approved Phase 2 95058-81-4 60750
40
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
41
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
42
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
43
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
44
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
45
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
46
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
47
Melphalan Approved Phase 2 148-82-3 4053 460612
48
Mesna Approved, Investigational Phase 2 3375-50-6 598
49
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
50
Leflunomide Approved, Investigational Phase 2 75706-12-6 3899

Interventional clinical trials:

(show top 50) (show all 207)
# 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 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
3 Fludarabine, Cyclophosphamide, Doxorubicin and Rituximab for the Treatment of Post-transplant Lymphoproliferative Disease (PTLD) Completed NCT01088724 Phase 4 fludarabine, cyclophosphamide, doxorubicin, rituximab
4 Cytotoxic T Cell Therapy for Post Transplant Lymphoproliferative Disease: Randomized Controlled Trial in Transplant Recipients Unknown status NCT00033475 Phase 3
5 Evaluation of Plasmatic Levels of Busulfan in Patients Undergoing Hematopoietic Stem Cell Transplantation Unknown status NCT01800643 Phase 2, Phase 3
6 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
7 A Double-Blind Study Of Nutritional Intervention For The Treatment Of Cancer Cachexia Using Juven® Nutritional Supplement Completed NCT00053053 Phase 3
8 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
9 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
10 A Phase III, Randomized Study Of Two Different Dosing Schedules Of Erythropoetin In Anemic Patients With Cancer Completed NCT00058331 Phase 3
11 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
12 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
13 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
14 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
15 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 Completed NCT03392142 Phase 3
16 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
17 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
18 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
19 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
20 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
21 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 Active, not recruiting NCT03386539 Phase 3 Everolimus;Tacrolimus;Mycophenolate Mofetil
22 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
23 Phase II Trial of Rituximab in Patients With B-Cell Lymphoproliferative Disorders Associated With Pharmacologic Immunosuppression Unknown status NCT00003716 Phase 2
24 A Non-randomized, Open-label, Phase II Study of Chidamide Combined With R-GDP in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma (DLBCL) Not Suitable for Transplantation Unknown status NCT03373019 Phase 2 Chidamide combined with R-GDP
25 An Evaluation of the Toxicity and Therapeutic Effects of Epstein-Barr Virus-Immune T-Lymphocytes Derived From a Normal HLA-Compatible or Haplotype-Matched Donor in the Treatment of EBV-Associated Lymphoproliferative Diseases or Malignancies and Patients With Detectable Circulating Levels of EBV DNA Who Are at High Risk for EBV-Associated Lymphoproliferative Diseases Completed NCT00002663 Phase 1, Phase 2
26 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
27 Treatment of T-Large Granular Lymphocyte (T-LGL) Lymphoproliferative Disorders With Alemtuzumab (Campath) Completed NCT00345345 Phase 2
28 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
29 A Multicenter Phase II Study Of BMS 247550 (Epothilone B Analogue) In Indolent Lymphoproliferative Disorders Completed NCT00052572 Phase 2 ixabepilone
30 A Phase II Study of the Novel Proteasome Inhibitor Bortezomib in Combination With Rituximab, Cyclophosphamide and Prednisone in Patients With Relapsed/Refractory Indolent B-Cell Lymphoproliferative Disorders and Mantle Cell Lymphoma (MCL) Completed NCT00295932 Phase 1, Phase 2 bortezomib;cyclophosphamide;prednisone
31 Phase II Study of PS-341 in Low Grade Lymphoproliferative Disorders Completed NCT00023764 Phase 2 bortezomib
32 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
33 Phase II Study of Cyclophosphamide, Prednisone and Rituximab (CPR) in Children, Adolescents and Young Adults With B-lymphocyte Antigen CD20 (CD20) Positive Post-Transplant Lymphoproliferative Disease (PTLD) Following Solid Organ Transplantation (SOT) Completed NCT00066469 Phase 2 cyclophosphamide;methylprednisolone;prednisone
34 A Phase I/II Study: Zevalin Radioimmunotherapy for Patients With Post Transplant Lymphoproliferative Disease Following Solid Organ Transplantation Completed NCT00064246 Phase 1, Phase 2
35 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
36 CD-34 Selection for Ex-vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Receiving Intensive Conditioning Completed NCT00368355 Phase 2 Ara-C;Cyclophosphamide
37 Prolonged Mycophenolate Mofetil and Truncated Cyclosporine Postgrafting Immunosuppression to Reduce Life-Threatening GVHD After Unrelated Donor Peripheral Blood Cell Transplantation Using Nonmyeloablative Conditioning for Patients With Hematologic Malignancies and Renal Cell Carcinoma - A Multi-Center Trial Completed NCT00078858 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
38 Nonmyeloablative Hematopoietic Stem Cell Transplantation for Patients With High-Risk Hematologic Malignancies Using Related, HLA-Haploidentical Donors: A Phase II Trial of Combined Immunosuppression Before and After Transplantation Completed NCT00049504 Phase 2 cyclophosphamide;fludarabine phosphate;tacrolimus;mycophenolate mofetil
39 Assessment of Early and Standard Intervention With Procrit® (Epoetin Alfa) 120,000 Units Once Every Three Weeks (Q3W) in Patients With Cancer Receiving Chemotherapy Completed NCT00255749 Phase 2
40 A Phase I/II Clinical Trial of the mTor Inhibitor RAD001 (Everolimus) in Combination With Lenalidomide (Revlimid) for Patients With Relapsed or Refractory Lymphoid Malignancy Completed NCT01075321 Phase 1, Phase 2 everolimus;lenalidomide
41 RC05CB A Pilot, Randomized Comparison of Standard Weekly Epoetin Alfa to Every-3-Week-Epoetin Alfa and Every 3-Week Darbepoetin Alfa Completed NCT00416624 Phase 2 darbepoetin alfa;epoetin alfa
42 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
43 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
44 High-dose Busulfan, High-dose Cyclophosphamide, and Allogeneic Bone Marrow Transplantation for Leukemia, Myelodysplastic Syndromes, Multiple Myeloma and Lymphoma Completed NCT01177371 Phase 2 busulfan;cyclophosphamide;methylprednisolone;methotrexate;cyclosporine
45 Bortezomib Plus Rituximab for EBV + Post Transplant Lymphoproliferative Disease (PTLD) Completed NCT01058239 Phase 2 bortezomib;rituximab
46 Phase II Trial of Everolimus (RAD001) in Relapsed/Refractory Lymphoma Completed NCT00436618 Phase 2 Everolimus
47 A Multi-Center Study of Nonmyeloablative Conditioning With TBI or Fludarabine/TBI for HLA-matched Related Hematopoietic Cell Transplantation for Treatment of Hematologic Malignancies With Post Grafting Immunosuppression With Tacrolimus and Mycophenolate Mofetil Completed NCT00089011 Phase 2 fludarabine phosphate;mycophenolate mofetil;tacrolimus
48 Induction of Mixed Hematopoietic Chimerism in Patients Using Fludarabine, Low Dose TBI, PBSC Infusion and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00006251 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
49 Pilot Study of Prophylactic Dose-Escalation Donor Lymphocyte Infusion After T Cell Depleted Allogeneic Stem Cell Transplant in High Risk Patients With Hematologic Malignancies Completed NCT01839916 Phase 2
50 A Pilot Trial of Vorinostat Plus Tacrolimus and Methotrexate to Prevent Graft Versus Host Disease Following Unrelated Donor Hematopoietic Stem Cell Transplantation Completed NCT01789255 Phase 2 vorinostat;tacrolimus;cyclosporine;methotrexate

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 Type V 29 CTLA4

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type V

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

40
T Cells, Lung, Bone Marrow, B Cells, Bone, Liver, Lymph Node

Publications for Autoimmune Lymphoproliferative Syndrome, Type V

Articles related to Autoimmune Lymphoproliferative Syndrome, Type V:

# Title Authors PMID Year
1
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. 6 57
25329329 2014
2
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. 57 6
25213377 2014
3
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. 6
30940614 2019
4
A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy. 6
30326257 2018
5
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. 6
29729943 2018
6
Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity. 6
29305966 2018
7
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 2018
8
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers. 6
30250467 2018
9
Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. 57
7481803 1995
10
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. 61
30087679 2018

Variations for Autoimmune Lymphoproliferative Syndrome, Type V

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

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTLA4 NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) SNV Pathogenic 161109 rs606231417 GRCh37: 2:204735350-204735350
GRCh38: 2:203870627-203870627
2 CTLA4 NM_005214.5(CTLA4):c.75del (p.Leu28fs) Deletion Pathogenic 161110 rs606231418 GRCh37: 2:204732740-204732740
GRCh38: 2:203868017-203868017
3 CTLA4 NM_005214.5(CTLA4):c.567+5G>C SNV Pathogenic 161111 rs606231419 GRCh37: 2:204736215-204736215
GRCh38: 2:203871492-203871492
4 CTLA4 NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter) SNV Pathogenic 161112 rs606231420 GRCh37: 2:204732770-204732770
GRCh38: 2:203868047-203868047
5 CTLA4 NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) SNV Pathogenic 475277 rs1357409506 GRCh37: 2:204735619-204735619
GRCh38: 2:203870896-203870896
6 CTLA4 NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) Deletion Pathogenic 572851 rs1559591695 GRCh37: 2:204735408-204735408
GRCh38: 2:203870685-203870685
7 CTLA4 NM_005214.5(CTLA4):c.81dup (p.Leu28fs) Duplication Pathogenic 644629 rs1581571901 GRCh37: 2:204732740-204732741
GRCh38: 2:203868017-203868018
8 CTLA4 NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) Deletion Pathogenic 645984 rs1581571813 GRCh37: 2:204732699-204732715
GRCh38: 2:203867976-203867992
9 CTLA4 NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) SNV Pathogenic 495051 rs1553657430 GRCh37: 2:204735611-204735611
GRCh38: 2:203870888-203870888
10 overlap with 2 genes NC_000002.12:g.(?_203866796)_(203959619_?)del Deletion Pathogenic 830454 GRCh37: 2:204731519-204824342
GRCh38:
11 overlap with 4 genes NC_000002.12:g.(?_203444868)_(203957883_?)del Deletion Pathogenic 833421 GRCh37: 2:204309591-204822606
GRCh38:
12 CTLA4 NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) SNV Pathogenic 853113 GRCh37: 2:204735548-204735548
GRCh38: 2:203870825-203870825
13 CTLA4 NM_005214.5(CTLA4):c.260del (p.Ala87fs) Deletion Pathogenic 854248 GRCh37: 2:204735459-204735459
GRCh38: 2:203870736-203870736
14 CTLA4 NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) SNV Pathogenic 945024 GRCh37: 2:204735422-204735422
GRCh38: 2:203870699-203870699
15 CTLA4 NM_005214.5(CTLA4):c.458-1G>T SNV Pathogenic 843889 GRCh37: 2:204736100-204736100
GRCh38: 2:203871377-203871377
16 CTLA4 NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) Insertion Pathogenic 852228 GRCh37: 2:204732666-204732667
GRCh38: 2:203867943-203867944
17 CTLA4 NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) Indel Pathogenic 969142 GRCh37: 2:204735314-204735338
GRCh38: 2:203870591-203870615
18 CTLA4 NM_005214.5(CTLA4):c.172_175del (p.Cys58fs) Microsatellite Pathogenic 973634 GRCh37: 2:204735367-204735370
GRCh38: 2:203870644-203870647
19 CTLA4 NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) SNV Pathogenic 1029948 GRCh37: 2:204735425-204735425
GRCh38: 2:203870702-203870702
20 CTLA4 NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) SNV Pathogenic/Likely pathogenic 161114 rs606231422 GRCh37: 2:204735407-204735407
GRCh38: 2:203870684-203870684
21 CTLA4 NM_005214.5(CTLA4):c.109+1G>A SNV Likely pathogenic 837868 GRCh37: 2:204732775-204732775
GRCh38: 2:203868052-203868052
22 CTLA4 NM_005214.5(CTLA4):c.458-1G>C SNV Likely pathogenic 965488 GRCh37: 2:204736100-204736100
GRCh38: 2:203871377-203871377
23 CTLA4 NM_005214.5(CTLA4):c.109+1G>T SNV Likely pathogenic 161113 rs606231421 GRCh37: 2:204732775-204732775
GRCh38: 2:203868052-203868052
24 CTLA4 NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) SNV Conflicting interpretations of pathogenicity 430905 rs1553657387 GRCh37: 2:204735359-204735359
GRCh38: 2:203870636-203870636
25 CTLA4 NM_005214.5(CTLA4):c.118G>A (p.Val40Met) SNV Conflicting interpretations of pathogenicity 430906 rs1553657378 GRCh37: 2:204735317-204735317
GRCh38: 2:203870594-203870594
26 CTLA4 NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) SNV Conflicting interpretations of pathogenicity 623475 rs1581573923 GRCh37: 2:204735615-204735615
GRCh38: 2:203870892-203870892
27 CTLA4 NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) SNV Uncertain significance 839887 GRCh37: 2:204735410-204735410
GRCh38: 2:203870687-203870687
28 CTLA4 NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) SNV Uncertain significance 948509 GRCh37: 2:204737528-204737528
GRCh38: 2:203872805-203872805
29 CTLA4 NM_005214.5(CTLA4):c.255T>G (p.Cys85Trp) SNV Uncertain significance 953562 GRCh37: 2:204735454-204735454
GRCh38: 2:203870731-203870731
30 CTLA4 NM_005214.5(CTLA4):c.567+3G>A SNV Uncertain significance 962294 GRCh37: 2:204736213-204736213
GRCh38: 2:203871490-203871490
31 CTLA4 NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) SNV Uncertain significance 811325 rs1581573705 GRCh37: 2:204735408-204735408
GRCh38: 2:203870685-203870685
32 CTLA4 NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp) SNV Uncertain significance 1002644 GRCh37: 2:204732687-204732687
GRCh38: 2:203867964-203867964
33 CTLA4 NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser) SNV Uncertain significance 542072 rs767352102 GRCh37: 2:204732669-204732669
GRCh38: 2:203867946-203867946
34 CTLA4 NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) SNV Uncertain significance 574111 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886
35 CTLA4 NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro) SNV Uncertain significance 973635 GRCh37: 2:204736182-204736182
GRCh38: 2:203871459-203871459
36 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) SNV Uncertain significance 432079 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886
37 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) SNV Uncertain significance 432079 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886
38 CTLA4 NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) SNV Uncertain significance 475275 rs138279736 GRCh37: 2:204732688-204732688
GRCh38: 2:203867965-203867965
39 CTLA4 NM_005214.5(CTLA4):c.565A>G (p.Met189Val) SNV Uncertain significance 542068 rs199912925 GRCh37: 2:204736208-204736208
GRCh38: 2:203871485-203871485
40 CTLA4 NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg) SNV Uncertain significance 542070 rs1553657427 GRCh37: 2:204735572-204735572
GRCh38: 2:203870849-203870849
41 CTLA4 NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) SNV Uncertain significance 849622 GRCh37: 2:204735635-204735635
GRCh38: 2:203870912-203870912
42 CTLA4 NM_005214.5(CTLA4):c.457+6C>G SNV Uncertain significance 952515 GRCh37: 2:204735662-204735662
GRCh38: 2:203870939-203870939
43 CTLA4 NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) SNV Uncertain significance 963547 GRCh37: 2:204735638-204735638
GRCh38: 2:203870915-203870915
44 CTLA4 NM_005214.5(CTLA4):c.312G>A (p.Thr104=) SNV Uncertain significance 1014611 GRCh37: 2:204735511-204735511
GRCh38: 2:203870788-203870788
45 CTLA4 NM_005214.5(CTLA4):c.529dup (p.Tyr177fs) Duplication Uncertain significance 1015801 GRCh37: 2:204736165-204736166
GRCh38: 2:203871442-203871443
46 CTLA4 NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu) SNV Uncertain significance 542071 rs144988077 GRCh37: 2:204735525-204735525
GRCh38: 2:203870802-203870802
47 CTLA4 NM_005214.5(CTLA4):c.384C>G (p.Ile128Met) SNV Uncertain significance 662956 rs750841862 GRCh37: 2:204735583-204735583
GRCh38: 2:203870860-203870860
48 CTLA4 NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg) SNV Uncertain significance 837696 GRCh37: 2:204732727-204732727
GRCh38: 2:203868004-203868004
49 CTLA4 NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser) SNV Uncertain significance 855611 GRCh37: 2:204732759-204732759
GRCh38: 2:203868036-203868036
50 CTLA4 NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) SNV Uncertain significance 943305 GRCh37: 2:204735423-204735423
GRCh38: 2:203870700-203870700

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

72
# 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

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type V

Sources for Autoimmune Lymphoproliferative Syndrome, Type V

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