MCID: LYM033
MIFTS: 59

Lymphoproliferative Syndrome

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

Aliases & Classifications for Lymphoproliferative Syndrome

MalaCards integrated aliases for Lymphoproliferative Syndrome:

Name: Lymphoproliferative Syndrome 12 58 29 54 6 15
Lymphoproliferative Disorder 29 6 15
Lymphoproliferative Disorders 54 70
Lymphoproliferative Disorders, Susceptibility to 29

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060704
UMLS via Orphanet 71 C0024314
Orphanet 58 ORPHA238510
UMLS 70 C0024314

Summaries for Lymphoproliferative Syndrome

Disease Ontology : 12 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.

MalaCards based summary : Lymphoproliferative Syndrome, also known as lymphoproliferative disorder, is related to caspase 8 deficiency and lymphoproliferative syndrome, x-linked, 2. An important gene associated with Lymphoproliferative Syndrome is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone marrow and t cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Lymphoproliferative Syndrome

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 Lymphoproliferative Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 777)
# Related Disease Score Top Affiliating Genes
1 caspase 8 deficiency 33.1 FASLG FAS CASP8 CASP10
2 lymphoproliferative syndrome, x-linked, 2 33.1 XIAP SLAMF1 SH2D1A PRF1 ITK
3 autoimmune lymphoproliferative syndrome, type iii 33.1 PRKCD CASP10
4 lymphoproliferative syndrome 1 33.0 XIAP SH2D1A PRF1 ITK IL2RA
5 lymphoproliferative syndrome 2 32.9 XIAP SLAMF1 SH2D1A ITK CTLA4 CD27
6 lymphoproliferative syndrome, x-linked, 1 32.9 XIAP SLAMF1 SH2D1A PTPN11 PRF1 LY9
7 autoimmune lymphoproliferative syndrome 32.5 SH2D1A PTPRC PRKCD PRF1 NRAS IL2RA
8 pfeiffer syndrome 31.1 SLAMF1 SH2D1A PTPN11 PRF1 IL2
9 rheumatoid arthritis 30.9 SH2D1A IL2RA IL2 FASLG FAS CTLA4
10 hemolytic anemia 30.8 IL2RA IL2 FASLG FAS CASP10
11 leukemia, acute lymphoblastic 30.7 XIAP PTPRC PTPN11 IL2 CTLA4 CASP8
12 autoimmune disease 30.7 PTPN11 PRF1 IL2RA IL2 FASLG FAS
13 lymphoma, hodgkin, classic 30.6 SH2D1A PTPRC IL2RA IL2
14 thrombocytopenia 30.6 PTPN11 PRF1 ITK IL2 FASLG FAS
15 hemophagocytic lymphohistiocytosis 30.6 XIAP SH2D1A PRF1 ITK IL2RA FAS
16 myeloma, multiple 30.6 XIAP PTPRC PTPN11 NRAS IL2 CTLA4
17 graft-versus-host disease 30.5 IL2 FASLG FAS
18 pancytopenia 30.4 XIAP SH2D1A PRF1 ITK IL2RA
19 lymphoma 30.4 XIAP SH2D1A PTPRC PTPN11 PRF1 IL2RA
20 dysgammaglobulinemia 30.3 XIAP SLAMF1 SH2D1A LY9 CD244
21 lymphopenia 30.3 ITK IL2RA IL2 FASLG FAS CTLA4
22 myelodysplastic syndrome 30.3 XIAP PTPN11 PRF1 NRAS IL2 FASLG
23 acute graft versus host disease 30.3 IL2RA IL2 FASLG
24 thyroiditis 30.2 IL2 FASLG CTLA4
25 celiac disease 1 30.2 PTPRC PRF1 IL2RA IL2 CTLA4
26 sjogren syndrome 30.2 IL2RA FASLG FAS
27 t cell deficiency 30.2 PTPRC IL2 CTLA4 CD27
28 immune deficiency disease 30.2 SLAMF1 SH2D1A PTPRC IL2RA IL2 FASLG
29 aplastic anemia 30.2 SH2D1A PRF1 NRAS IL2RA IL2 FASLG
30 severe combined immunodeficiency 30.2 PTPRC IL2RA IL2 CD27
31 common variable immunodeficiency 30.1 XIAP SH2D1A PRKCD IL2RA IL2 FAS
32 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.1 IL2RA IL2 CTLA4
33 t-cell acute lymphoblastic leukemia 30.1 XIAP PTPRC IL2RA IL2 CTLA4
34 panniculitis 30.1 IL2RA FASLG FAS
35 lymphadenitis 30.1 IL2RA FASLG FAS
36 graves' disease 30.1 IL2RA FASLG FAS CTLA4
37 chickenpox 30.1 PRF1 IL2 CTLA4 CD27
38 juvenile rheumatoid arthritis 30.1 IL2RA IL2 CTLA4
39 t-cell large granular lymphocyte leukemia 30.1 IL2RA IL2 FASLG
40 b cell deficiency 30.0 SH2D1A PRKCD ITK IL2 CTLA4 CD27
41 b-lymphoblastic leukemia/lymphoma 30.0 PTPRC PTPN11 IL2RA
42 multiple sclerosis 30.0 PTPRC PRF1 IL2RA IL2 FASLG CTLA4
43 adult t-cell leukemia 30.0 XIAP IL2RA IL2 FAS CTLA4
44 lymphoma, non-hodgkin, familial 29.9 XIAP SH2D1A PTPRC PRF1 NRAS IL2RA
45 hypersensitivity reaction type iv disease 29.9 IL2 FASLG FAS CTLA4 CD27 CASP8
46 combined immunodeficiency 29.9 PTPRC PLAA IL2RA IL2 CTLA4 CD27
47 viral infectious disease 29.9 SLAMF1 IL2RA IL2 FAS CTLA4
48 human immunodeficiency virus infectious disease 29.9 PTPRC IL2RA IL2 FASLG FAS
49 sarcoidosis 1 29.9 PTPRC IL2RA IL2 CD27
50 acute promyelocytic leukemia 29.9 XIAP PTPRC PRKCD NRAS FAS CASP8

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome:



Diseases related to Lymphoproliferative Syndrome

Symptoms & Phenotypes for Lymphoproliferative Syndrome

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10 PTPRC
2 Decreased viability GR00173-A 10 PRKCD
3 Decreased viability GR00221-A-1 10 NRAS PRKCD
4 Decreased viability GR00221-A-2 10 PRKCD
5 Decreased viability GR00221-A-3 10 NRAS
6 Decreased viability GR00221-A-4 10 ITK
7 Decreased viability GR00249-S 10 CASP10 IL2RA ITK PRKCD
8 Decreased viability GR00301-A 10 ITK
9 Decreased viability GR00381-A-1 10 PLAA
10 Decreased viability GR00386-A-1 10 FASLG PLAA SH2D1A
11 Decreased viability GR00402-S-2 10 CD244 FASLG IL2 IL2RA PLAA PRKCD
12 Reduced mammosphere formation GR00396-S 9.23 CD27 FAS FASLG IL2RA ITK NRAS

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.39 CASP8 CD244 CD27 CTLA4 FAS FASLG
2 cellular MP:0005384 10.34 CASP8 CD27 FAS FASLG IL2 ITK
3 immune system MP:0005387 10.32 CASP8 CD244 CD27 CTLA4 FAS FASLG
4 cardiovascular system MP:0005385 10.29 CASP8 CTLA4 FAS FASLG IL2 IL2RA
5 endocrine/exocrine gland MP:0005379 10.27 CASP8 CTLA4 FAS FASLG IL2 IL2RA
6 homeostasis/metabolism MP:0005376 10.22 CASP8 CTLA4 FAS FASLG IL2 IL2RA
7 digestive/alimentary MP:0005381 10.13 CTLA4 FAS FASLG IL2 IL2RA NRAS
8 integument MP:0010771 9.97 CASP8 CTLA4 FAS FASLG NRAS PRF1
9 mortality/aging MP:0010768 9.97 CASP8 CTLA4 FAS FASLG IL2 IL2RA
10 liver/biliary system MP:0005370 9.96 CASP8 CTLA4 FAS FASLG IL2 NRAS
11 neoplasm MP:0002006 9.56 CASP8 FAS FASLG IL2 NRAS PRF1
12 respiratory system MP:0005388 9.28 CASP8 CTLA4 FAS FASLG IL2 IL2RA

Drugs & Therapeutics for Lymphoproliferative Syndrome

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

(show top 50) (show all 162)
# 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
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
5
Iron Approved Phase 3 7439-89-6 23925 29936
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
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
47
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
48
Melphalan Approved Phase 2 148-82-3 4053 460612
49
Mesna Approved, Investigational Phase 2 3375-50-6 598
50
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926

Interventional clinical trials:

(show top 50) (show all 208)
# 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 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
29 A Phase I/II Study: Zevalin Radioimmunotherapy for Patients With Post Transplant Lymphoproliferative Disease Following Solid Organ Transplantation Completed NCT00064246 Phase 1, Phase 2
30 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
31 A Multicenter Phase II Study Of BMS 247550 (Epothilone B Analogue) In Indolent Lymphoproliferative Disorders Completed NCT00052572 Phase 2 ixabepilone
32 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
33 Phase II Study of PS-341 in Low Grade Lymphoproliferative Disorders Completed NCT00023764 Phase 2 bortezomib
34 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
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 Pilot (Phase I-II) Study of Valproic Acid (Depakote) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
37 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Completed NCT00392951 Phase 1, Phase 2 sirolimus
38 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
39 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
40 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
41 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
42 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
43 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
44 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)
45 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
46 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
47 Bortezomib Plus Rituximab for EBV + Post Transplant Lymphoproliferative Disease (PTLD) Completed NCT01058239 Phase 2 bortezomib;rituximab
48 Phase II Trial of Everolimus (RAD001) in Relapsed/Refractory Lymphoma Completed NCT00436618 Phase 2 Everolimus
49 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
50 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

Search NIH Clinical Center for Lymphoproliferative Syndrome

Genetic Tests for Lymphoproliferative Syndrome

Genetic tests related to Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Lymphoproliferative Disorder 29
2 Lymphoproliferative Syndrome 29
3 Lymphoproliferative Disorders, Susceptibility to 29

Anatomical Context for Lymphoproliferative Syndrome

MalaCards organs/tissues related to Lymphoproliferative Syndrome:

40
Kidney, Bone Marrow, T Cells, Skin, B Cells, Lymph Node, Myeloid

Publications for Lymphoproliferative Syndrome

Articles related to Lymphoproliferative Syndrome:

(show top 50) (show all 5969)
# Title Authors PMID Year
1
Bortezomib as a treatment option in patients with Waldenström macroglobulinemia. 61 54
20371443 2010
2
Prognostic irrelevance of HLA-G in B-cell chronic lymphocytic leukemia. 54 61
18241213 2009
3
Constitutive JAK3 activation induces lymphoproliferative syndromes in murine bone marrow transplantation models. 54 61
19139084 2009
4
Update on treatment recommendations from the Fourth International Workshop on Waldenstrom's Macroglobulinemia. 61 54
19047284 2009
5
Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). 54 61
19595300 2009
6
SLAM receptors and SAP influence lymphocyte interactions, development and function. 61 54
19079134 2009
7
The antileukemia activity of a human anti-CD40 antagonist antibody, HCD122, on human chronic lymphocytic leukemia cells. 61 54
18497318 2008
8
The incidence and survival of Waldenström's Macroglobulinaemia in South East England. 61 54
17416416 2008
9
Detection of bcl-2 Translocation in Patients with Chronic Hepatitis C and its Possible Relation to Antiviral Therapy: Preliminary Study. 61 54
19190694 2007
10
Associations among Epstein-Barr virus subtypes, human leukocyte antigen class I alleles, and the development of posttransplantation lymphoproliferative disorder in bone marrow transplant recipients. 54 61
17278061 2007
11
CD5 does not regulate the signaling triggered through BCR in B cells from a subset of B-CLL patients. 54 61
17325858 2007
12
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. 54 61
16627752 2006
13
B cell receptors in TCL1 transgenic mice resemble those of aggressive, treatment-resistant human chronic lymphocytic leukemia. 61 54
16864779 2006
14
JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained. 61 54
16598306 2006
15
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients. 61 54
16537120 2006
16
Effect of rapamycin on mouse chronic lymphocytic leukemia and the development of nonhematopoietic malignancies in Emu-TCL1 transgenic mice. 61 54
16424025 2006
17
X-linked lymphoproliferative disease in an adult. 61 54
16105760 2005
18
Polymorphism of the CD30 promoter microsatellite repressive element is associated with development of primary cutaneous lymphoproliferative disorders. 61 54
15894695 2005
19
Polyclonal proliferation of plasma cells associated with marked hypergammaglobulinemia in an elderly patient. 54 61
15717691 2005
20
Treatment options in Waldenstrom's macroglobulinemia. 54 61
15636690 2004
21
Enhanced tumorigenesis in HTLV-1 tax-transgenic mice deficient in interferon-gamma. 54 61
15292059 2004
22
Primary Immunodeficiencies Inducing EBV-Associated Severe Illnesses. 61 54
17301392 2004
23
Posttransplant lymphoproliferative disorder presenting as CD30+, ALK+, anaplastic large cell lymphoma in a child. 54 61
15148593 2004
24
The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. 61 54
14523387 2003
25
Specificity of antinuclear and antiphospholipid antibodies in sera of patients with autoimmune lymphoproliferative disease (ALD). 54 61
12846062 2003
26
ATM gene alterations in childhood acute lymphoblastic leukemias. 54 61
12673804 2003
27
Bcl-2 antisense (G3139, Genasense) enhances the in vitro and in vivo response of Epstein-Barr virus-associated lymphoproliferative disease to rituximab. 54 61
12738752 2003
28
Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. 54 61
12655301 2003
29
[Hepatitis C and immunoglobulin heavy-chain gene rearrangement]. 54 61
11979995 2002
30
Regression of lymphoproliferative disorder after treatment for hepatitis C virus infection in a patient with partial trisomy 3, Bcl-2 overexpression, and type II cryoglobulinemia. 54 61
11877309 2002
31
Clinical utility of CD23 and FMC7 antigen coexistent expression in B-cell lymphoproliferative disorder subclassification. 61 54
11857591 2002
32
Unexpected and variable phenotypes in a family with JAK3 deficiency. 54 61
11781709 2001
33
GM-CSF and IL-2 induce specific cellular immunity and provide protection against Epstein-Barr virus lymphoproliferative disorder. 61 54
11560958 2001
34
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. 61 54
11414741 2001
35
CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A. 54 61
11313386 2001
36
Patients with X-linked lymphoproliferative disease have a defect in 2B4 receptor-mediated NK cell cytotoxicity. 61 54
11093147 2000
37
Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer. 61 54
10807785 2000
38
Simian virus 40 is present in most United States human mesotheliomas, but it is rarely present in non-Hodgkin's lymphoma. 61 54
10619511 1999
39
Transcriptional and post-transcriptional mechanisms induce cyclin-D1 over-expression in B-chronic lymphoproliferative disorders. 61 54
10471532 1999
40
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 54 61
10515860 1999
41
Cyclin D1 overexpression allows identification of an aggressive subset of leukemic lymphoproliferative disorder. 54 61
10482984 1999
42
Altered expression of tyrosine kinases of the Src and Syk families in human T-cell leukemia virus type 1-infected T-cell lines. 61 54
10196263 1999
43
Immunodeficiency-associated lymphoproliferative disorders. 54 61
10071343 1999
44
Epstein-Barr virus-associated lymphoproliferative disorder after unrelated bone marrow transplantation in a young child with Wiskott-Aldrich syndrome. 54 61
9658436 1998
45
Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. 61 54
9533447 1998
46
Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. 61 54
9609991 1998
47
Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. 54 61
9108407 1997
48
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 54 61
8929361 1996
49
HTLV Tax gene expression in patients with lymphoproliferative disorders. 54 61
8944616 1996
50
Clinical, immunological, and pathological consequences of Fas-deficient conditions. 61 54
8806292 1996

Variations for Lymphoproliferative Syndrome

ClinVar genetic disease variations for Lymphoproliferative Syndrome:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLAA NM_001031689.3(PLAA):c.1487-1G>A SNV Likely pathogenic 598964 rs1426488816 GRCh37: 9:26913946-26913946
GRCh38: 9:26913948-26913948
2 XIAP NM_001167.3(XIAP):c.*5180dup Duplication Conflicting interpretations of pathogenicity 367846 rs60841987 GRCh37: X:123046198-123046199
GRCh38: X:123912348-123912349
3 SH2D1A NM_002351.4(SH2D1A):c.*51_*52del Deletion Uncertain significance 367874 rs769919066 GRCh37: X:123505292-123505293
GRCh38: X:124371442-124371443
4 ITK NM_005546.3(ITK):c.*1682G>T SNV Uncertain significance 352496 rs538864150 GRCh37: 5:156681370-156681370
GRCh38: 5:157254360-157254360
5 ITK NM_005546.3(ITK):c.625_627delTGG Microsatellite Uncertain significance 352465 rs757871566 GRCh37: 5:156649999-156650001
GRCh38: 5:157222989-157222991
6 XIAP NM_001167.3(XIAP):c.*5070del Deletion Uncertain significance 367843 rs751242607 GRCh37: X:123046090-123046090
GRCh38: X:123912240-123912240
7 XIAP NM_001167.3(XIAP):c.*4307_*4309dup Duplication Uncertain significance 367835 rs397713705 GRCh37: X:123045327-123045328
GRCh38: X:123911477-123911478
8 XIAP NM_001167.3(XIAP):c.*5047dup Duplication Uncertain significance 367841 rs368295939 GRCh37: X:123046066-123046067
GRCh38: X:123912216-123912217
9 SH2D1A NM_002351.4(SH2D1A):c.*1773G>A SNV Likely benign 369633 rs190741204 GRCh37: X:123507014-123507014
GRCh38: X:124373164-124373164
10 XIAP NM_001167.3(XIAP):c.*5034_*5035insAAA Insertion Likely benign 367840 rs770819952 GRCh37: X:123046064-123046065
GRCh38: X:123912214-123912215
11 XIAP NM_001204401.1(XIAP):c.*1175_*1178ATTA[1] Microsatellite Likely benign 367803 rs747235601 GRCh37: X:123042205-123042208
GRCh38: X:123908355-123908358
12 XIAP NM_001204401.1(XIAP):c.*6564_*6567CTGA[2] Microsatellite Likely benign 367865 rs28382756 GRCh37: X:123047595-123047598
GRCh38: X:123913745-123913748
13 XIAP NM_001167.3(XIAP):c.*5047del Deletion Benign 367842 rs368295939 GRCh37: X:123046067-123046067
GRCh38: X:123912217-123912217
14 XIAP NM_001167.3(XIAP):c.*5505del Deletion Benign 367851 rs111508332 GRCh37: X:123046536-123046536
GRCh38: X:123912686-123912686
15 XIAP NM_001167.3(XIAP):c.*3702dup Duplication Benign 367826 rs762141177 GRCh37: X:123044717-123044718
GRCh38: X:123910867-123910868
16 XIAP NM_001167.3(XIAP):c.*2296_*2300del Deletion Benign 367809 rs79291374 GRCh37: X:123043325-123043329
GRCh38: X:123909475-123909479
17 XIAP NM_001167.3(XIAP):c.*4309dup Duplication Benign 367834 rs397713705 GRCh37: X:123045327-123045328
GRCh38: X:123911477-123911478
18 XIAP NM_001167.3(XIAP):c.*5180del Deletion Benign 367847 rs60841987 GRCh37: X:123046199-123046199
GRCh38: X:123912349-123912349
19 SH2D1A NM_002351.4(SH2D1A):c.*203del Deletion Benign 367875 rs67202578 GRCh37: X:123505440-123505440
GRCh38: X:124371590-124371590
20 XIAP NM_001167.3(XIAP):c.*5519del Deletion Benign 367852 rs374013599 GRCh37: X:123046537-123046537
GRCh38: X:123912687-123912687
21 XIAP NM_001167.3(XIAP):c.*5068_*5069insT Insertion Benign 367844 rs58114044 GRCh37: X:123046099-123046100
GRCh38: X:123912249-123912250

Expression for Lymphoproliferative Syndrome

Search GEO for disease gene expression data for Lymphoproliferative Syndrome.

Pathways for Lymphoproliferative Syndrome

Pathways related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 SH2D1A PTPRC PTPN11 PRKCD NRAS ITK
2
Show member pathways
13.85 XIAP PRKCD NRAS IL2RA IL2 FASLG
3
Show member pathways
13.83 PRKCD NRAS IL2RA IL2 FASLG FAS
4
Show member pathways
13.69 PRKCD NRAS IL2RA IL2 FASLG FAS
5
Show member pathways
13.42 XIAP PRKCD NRAS ITK IL2RA IL2
6
Show member pathways
13.36 PTPN11 PRKCD NRAS IL2RA IL2 FASLG
7
Show member pathways
13.2 NRAS IL2 FASLG FAS CASP8 CASP10
8
Show member pathways
13.06 PTPRC PTPN11 PRKCD NRAS IL2RA IL2
9
Show member pathways
13.05 XIAP PTPRC PRKCD NRAS FASLG FAS
10
Show member pathways
13 NRAS IL2RA IL2 FASLG FAS CASP8
11
Show member pathways
12.88 PRKCD NRAS ITK FASLG FAS
12
Show member pathways
12.85 SLAMF1 IL2RA IL2 FASLG FAS CASP8
13 12.81 XIAP NRAS IL2RA IL2 FASLG FAS
14
Show member pathways
12.81 PRF1 IL2RA IL2 FASLG FAS CTLA4
15 12.8 SH2D1A PRKCD NRAS FASLG FAS CASP8
16
Show member pathways
12.76 XIAP PTPN11 PRKCD NRAS FASLG FAS
17
Show member pathways
12.75 PTPRC PTPN11 FASLG FAS CASP8
18
Show member pathways
12.71 XIAP FASLG FAS CASP8 CASP10
19
Show member pathways
12.7 PRF1 NRAS FASLG FAS CASP8 CASP10
20
Show member pathways
12.67 PRKCD NRAS FASLG FAS CD27
21
Show member pathways
12.59 XIAP PRF1 NRAS FASLG FAS CD27
22
Show member pathways
12.57 PRKCD FASLG FAS CD27 CASP8 CASP10
23
Show member pathways
12.54 XIAP PRKCD NRAS CASP8 CASP10
24
Show member pathways
12.45 PTPRC PTPN11 PRKCD NRAS
25
Show member pathways
12.41 PTPN11 PRKCD IL2RA IL2
26
Show member pathways
12.41 PTPRC PTPN11 PRKCD NRAS
27
Show member pathways
12.41 PRKCD NRAS IL2RA IL2 CASP8 CASP10
28
Show member pathways
12.38 XIAP FASLG FAS CASP8 CASP10
29 12.35 XIAP NRAS IL2RA IL2
30
Show member pathways
12.35 PTPRC PRKCD ITK IL2RA IL2 CTLA4
31
Show member pathways
12.33 XIAP FASLG FAS CASP8 CASP10
32 12.31 PTPN11 NRAS FASLG FAS
33
Show member pathways
12.3 PTPRC PTPN11 PRKCD NRAS ITK IL2
34
Show member pathways
12.26 FASLG FAS CASP8 CASP10
35 12.25 XIAP PTPN11 FASLG FAS CASP8
36
Show member pathways
12.21 XIAP FASLG FAS CASP8
37
Show member pathways
12.2 PTPN11 PRKCD NRAS IL2 CASP8
38
Show member pathways
12.14 XIAP PRF1 FASLG FAS CASP8 CASP10
39 12.07 SH2D1A PTPRC ITK IL2RA IL2 FASLG
40
Show member pathways
12.06 PRKCD NRAS CASP8 CASP10
41
Show member pathways
11.99 PTPRC PTPN11 PRF1 ITK
42
Show member pathways
11.89 XIAP PTPRC PTPN11
43
Show member pathways
11.86 PRKCD NRAS CASP8 CASP10
44 11.86 SLAMF1 PTPRC LY9 IL2RA IL2 CD244
45 11.84 PTPRC IL2RA IL2 CD244
46
Show member pathways
11.8 FASLG FAS CD27
47
Show member pathways
11.79 IL2RA IL2 FASLG CTLA4
48 11.78 SLAMF1 PTPRC IL2 CD244
49
Show member pathways
11.77 XIAP PRF1 FASLG FAS CASP8
50 11.76 XIAP FASLG FAS CASP8

GO Terms for Lymphoproliferative Syndrome

Cellular components related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 SLAMF1 PTPRC PRKCD PRF1 NRAS LY9
2 membrane raft GO:0045121 9.71 PTPRC FASLG FAS CASP8
3 cell surface GO:0009986 9.7 SLAMF1 PTPRC LY9 IL2RA FASLG FAS
4 death-inducing signaling complex GO:0031264 9.32 FAS CASP8
5 ripoptosome GO:0097342 9.26 CASP8 CASP10
6 external side of plasma membrane GO:0009897 9.17 PTPRC IL2RA FASLG FAS CTLA4 CD27
7 CD95 death-inducing signaling complex GO:0031265 9.13 FAS CASP8 CASP10

Biological processes related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.95 IL2RA IL2 FASLG FAS CTLA4 CD244
2 cytokine-mediated signaling pathway GO:0019221 9.93 PTPN11 IL2RA IL2 FASLG
3 cell surface receptor signaling pathway GO:0007166 9.92 PTPRC IL2RA CD27 CASP8 CASP10
4 immune system process GO:0002376 9.92 SLAMF1 SH2D1A LY9 ITK IL2RA IL2
5 adaptive immune response GO:0002250 9.8 SLAMF1 SH2D1A LY9 ITK IL2 CTLA4
6 cellular response to mechanical stimulus GO:0071260 9.77 PTPN11 FAS CASP8
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.76 FASLG FAS CASP8 CASP10
8 positive regulation of T cell proliferation GO:0042102 9.75 PTPRC IL2RA IL2
9 cellular defense response GO:0006968 9.72 SH2D1A PRF1 ITK
10 T cell activation GO:0042110 9.71 PTPRC ITK CASP8
11 apoptotic signaling pathway GO:0097190 9.71 FASLG FAS CASP8 CASP10
12 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.69 FASLG FAS CASP8
13 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.62 PTPRC PRKCD
14 negative regulation of immune response GO:0050777 9.62 IL2RA CTLA4
15 immunoglobulin mediated immune response GO:0016064 9.61 PRKCD CD27
16 interleukin-2-mediated signaling pathway GO:0038110 9.61 IL2RA IL2
17 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.61 FASLG FAS CASP8
18 positive regulation of isotype switching to IgG isotypes GO:0048304 9.59 PTPRC IL2
19 necroptotic signaling pathway GO:0097527 9.58 FASLG FAS
20 negative regulation of lymphocyte proliferation GO:0050672 9.57 IL2RA IL2
21 activation-induced cell death of T cells GO:0006924 9.56 IL2RA FAS
22 regulation of regulatory T cell differentiation GO:0045589 9.54 IL2RA IL2 CTLA4
23 regulation of T cell homeostatic proliferation GO:0046013 9.49 IL2RA IL2
24 extrinsic apoptotic signaling pathway GO:0097191 9.46 FASLG FAS CD27 CASP8
25 apoptotic process GO:0006915 9.28 XIAP PRKCD PRF1 IL2RA FASLG FAS
26 positive regulation of T cell differentiation GO:0045582 9.26 PTPRC IL2RA IL2 CD27

Molecular functions related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.62 XIAP SLAMF1 SH2D1A PTPRC PTPN11 PRKCD
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.37 CASP8 CASP10
3 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.32 CASP8 CASP10
4 insulin receptor substrate binding GO:0043560 9.26 PTPN11 PRKCD
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.16 CASP8 CASP10
6 death effector domain binding GO:0035877 8.96 CASP8 CASP10

Sources for Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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