MCID: LYM107
MIFTS: 53

Lymphoproliferative Syndrome 2

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

Aliases & Classifications for Lymphoproliferative Syndrome 2

MalaCards integrated aliases for Lymphoproliferative Syndrome 2:

Name: Lymphoproliferative Syndrome 2 54 12 24 71 29 13 14 69
Cd27 Deficiency 12 24 71
Lpfs2 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first months or years of life
variable survival
recurrent acute episodes
favorable response to rituxan (in some patients)


HPO:

32
lymphoproliferative syndrome 2:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lymphoproliferative Syndrome 2

OMIM : 54
Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (615122)

MalaCards based summary : Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to lymphoproliferative syndrome, x-linked, 2 and autosomal recessive lymphoproliferative disease, and has symptoms including hepatomegaly, splenomegaly and fever. An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Mycophenolate mofetil and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

Disease Ontology : 12 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has material basis in homozygous mutation in the CD27 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 71 Lymphoproliferative syndrome 2: An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation.

Related Diseases for Lymphoproliferative Syndrome 2

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome, Type Iib Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune Lymphoproliferative Syndrome, Type Iii Lymphoproliferative Syndrome 1
Autoimmune Lymphoproliferative Syndrome Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Ii Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency
Casp10-Related Autoimmune Lymphoproliferative Syndrome Fas-Related Autoimmune Lymphoproliferative Syndrome
Faslg-Related Autoimmune Lymphoproliferative Syndrome Prkcd-Related Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome, Type 0 Autosomal Recessive Lymphoproliferative Disease

Diseases related to Lymphoproliferative Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
id Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 2 11.1
2 autosomal recessive lymphoproliferative disease 10.9
3 theileriasis 10.5 CD27 MCL1
4 colonic benign neoplasm 10.4 CD27 CD40LG
5 heart fibrosarcoma 10.4 CD40LG MAGT1
6 atypical lichen myxedematosus 10.4 CXCR3 IL2RA
7 gestational diabetes 10.4 CD40LG MAGT1
8 opthalmoplegia myalgia tubular aggregates 10.4 CXCL10 CXCR3
9 seborrheic infantile dermatitis 10.3 CD40LG MAGT1
10 rem sleep behavior disorder 10.2 CD27 CD40LG CD70
11 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 10.2 FOXP3 IL2RA
12 scleral disease 10.1 CD27 CD40LG IL2RA
13 rocky mountain spotted fever 10.1 CD40LG CXCL10
14 congenital hereditary facial paralysis-variable hearing loss syndrome 10.1 BCL2L1 CXCR3
15 dyskeratosis congenita 10.1 CD40LG CXCL10
16 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 10.1 CXCL10 IL2RA
17 esophageal candidiasis 10.0 CXCL10 CXCR3 IL2RA
18 gingival recession 10.0 BCL2L1 CD27 MCL1
19 cyclosporiasis 10.0 CXCR3 IL2RA
20 epstein-barr virus, susceptibility to chronic infection by 10.0 CXCL10 CXCR3 IL2RA
21 malignant eyelid melanoma 10.0 CD40LG CXCL10
22 newcastle disease 10.0 CD27 CD40LG CXCL10
23 cherry allergy 10.0 CXCL10 FOXP3
24 drug psychosis 9.9 CD40LG CXCL10
25 discitis 9.9 CD40LG MCL1
26 peroxisome biogenesis disorder 7a 9.9 BCL2L1 GATA2 MCL1
27 progressive relapsing multiple sclerosis 9.9 CD40LG CXCL10 CXCR3
28 fanconi syndrome 9.9 CD276 CXCL10
29 alcoholic hepatitis 9.7 BCL2L1 FOXP3 IL2RA
30 megakaryocytic leukemia 9.7 BCL2L1 CD40LG MCL1
31 childhood testicular mixed germ cell tumor 9.7 FOXP3 IL2RA MAGT1 PIK3CD
32 solid pattern testicular yolk sac tumor 9.4 CD40LG FOXP3
33 congenital symblepharon 9.3 CD27 CD40LG CD70 FOXP3 IL2RA
34 smoking as a quantitative trait locus 1 9.2 BCL2L1 CD27 CD40LG IL2RA MCL1
35 advanced sleep phase syndrome, familial, 1 8.9 CD40LG CXCL10 CXCR3 FOXP3 IL2RA
36 chronic myocardial ischemia 8.6 BCL2L1 CD27 CD40LG CD70 CXCR3 IL2RA
37 hemolytic anemia due to triosephosphate isomerase deficiency 5.5 BANF1 BCL2L1 CD27 CD276 CD40LG CD70

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 2:



Diseases related to Lymphoproliferative Syndrome 2

Symptoms & Phenotypes for Lymphoproliferative Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Liver:
hepatomegaly

Immunology:
hypogammaglobulinemia
lymphadenopathy
decreased t cell-dependent antibody production
defective cd8+ t cell function
lack of cd27 expression on lymphocytes
more
Muscle Soft Tissue:
ascites (in some patients)

Neoplasia:
hemophagocytic lymphohistiocytosis (in some patients)
lymphoproliferative disorder (in some patients)
lymphoma (in some patients)

Abdomen- Spleen:
splenomegaly

Metabolic Features:
fever

Hematology:
aplastic anemia (in some patients)
pancytopenia (in some patients)

Laboratory- Abnormalities:
increased susceptibility to ebv infection
persistent ebv viremia
decreased fibrinogen (in some patients)


Clinical features from OMIM:

615122

Human phenotypes related to Lymphoproliferative Syndrome 2:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 splenomegaly 32 HP:0001744
3 fever 32 HP:0001945
4 lymphadenopathy 32 HP:0002716
5 lymphoma 32 occasional (7.5%) HP:0002665
6 ascites 32 occasional (7.5%) HP:0001541
7 aplastic anemia 32 occasional (7.5%) HP:0001915
8 decreased antibody level in blood 32 HP:0004313
9 lymphoproliferative disorder 32 occasional (7.5%) HP:0005523
10 hemophagocytosis 32 occasional (7.5%) HP:0012156

UMLS symptoms related to Lymphoproliferative Syndrome 2:


fever

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 BCL2L1 CD40LG CD70 IL2RA MCL1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 BCL2L1 CD27 CD40LG CD70 IL2RA MCL1

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 BCL2L1 CD27 CD40LG CXCL10 CXCR3 FOXP3
2 hematopoietic system MP:0005397 9.73 CXCR3 FOXP3 GATA2 IL2RA MCL1 PIK3CD
3 endocrine/exocrine gland MP:0005379 9.7 GATA2 IL2RA MCL1 PIK3CD BCL2L1 CD40LG
4 immune system MP:0005387 9.36 BCL2L1 CD27 CD276 CD40LG CD70 CXCL10

Drugs & Therapeutics for Lymphoproliferative Syndrome 2

Drugs for Lymphoproliferative Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 430)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
2
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
3
Busulfan Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 55-98-1 2478
4
Fludarabine Approved Phase 4,Phase 3,Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved Phase 4,Phase 3,Phase 1,Phase 2 24356-66-9 32326 21704
6
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
7 Thiotepa Approved Phase 4,Phase 2,Phase 3,Phase 1 52-24-4 5453
8
Rasburicase Approved, Investigational Phase 4,Phase 2,Phase 1 134774-45-1
9
Denileukin diftitox Approved, Investigational Phase 4,Phase 2 173146-27-5
10
Lenograstim Approved Phase 4,Phase 2,Phase 3,Phase 1 135968-09-1
11
Vorinostat Approved, Investigational Phase 4,Phase 2,Phase 1 149647-78-9 5311
12
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 1,Phase 2 59-67-6 938
13
Nicotinamide Approved, Nutraceutical Phase 4,Phase 1,Phase 2 98-92-0 936
14 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
16 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
17 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Alkylating Agents Phase 4,Phase 2,Phase 3,Phase 1
19 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
21 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
22 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Antilymphocyte Serum Phase 4,Phase 2,Phase 3,Phase 1
24 Vaccines Phase 4,Phase 2,Phase 1
25 interferons Phase 4,Phase 2,Phase 1
26 Histone Deacetylase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
27 Nicotinic Acids Phase 4,Phase 1,Phase 2
28 Interferon-gamma Phase 4,Phase 2
29 Vitamin B3 Nutraceutical Phase 4,Phase 1,Phase 2
30
Idarubicin Approved Phase 3 58957-92-9 42890
31
Melphalan Approved Phase 3,Phase 2,Phase 1 148-82-3 4053 460612
32
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
33
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1 83-43-2 6741
34
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
35
Prednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1 50-24-8 5755
36
Cytarabine Approved, Investigational Phase 2, Phase 3, Phase 1 147-94-4 6253
37
Methotrexate Approved Phase 2, Phase 3, Phase 1 1959-05-2, 59-05-2 126941
38
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
39
Tacrolimus Approved, Investigational Phase 3,Phase 1,Phase 2 104987-11-3 445643 439492
40
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
41
Levoleucovorin Approved Phase 3,Phase 2,Phase 1 68538-85-2
42
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
43
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337
44
Daclizumab Approved, Investigational Phase 3,Phase 2,Phase 1 152923-56-3
45
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 6442177
46
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
47
Azathioprine Approved Phase 3 446-86-6 2265
48
Darbepoetin alfa Approved, Investigational Phase 3,Phase 2 11096-26-7, 209810-58-2
49
Iron Approved Phase 3,Phase 2,Phase 1 7439-89-6 23925
50
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345

Interventional clinical trials:

(show top 50) (show all 624)

id Name Status NCT ID Phase Drugs
1 A Study of the Impact of an Early Biopsy in Patients Treated With CellCept (Mycophenolate Mofetil) After Kidney Transplantation Completed NCT00817687 Phase 4 mycophenolate mofetil [CellCept];mycophenolate mofetil [CellCept]
2 Study of Rasburicase as Treatment or Prevention of Hyperuricemia Associated With Tumor Lysis Syndrome in Patients With Relapsed or Refractory Lymphoma, Leukemia, or Solid Tumor Malignancy Completed NCT00230217 Phase 4 Rasburicase (SR29142)
3 Busulfan Safety/Efficacy as Conditioning Prior to Hematopoietic Cell Transplantation (HCT) Completed NCT00361140 Phase 4 Busulfan;Fludarabine
4 Study of ONTAK (Denileukin Diftitox) in Previously Treated Cutaneous T-Cell Lymphoma Patients Completed NCT00051012 Phase 4 ONTAK
5 Study of ONTAK (Denileukin Diftitox) in Cutaneous T-Cell Lymphoma (CTCL) Patients Completed NCT00050999 Phase 4 ONTAK
6 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00003398 Phase 4 cyclophosphamide;thiotepa
7 Low Grade Lymphoma Recruiting NCT01698866 Phase 4
8 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
9 Impact of Vorinostat on Pruritus Signaling Pathways - Merck Study Withdrawn NCT01801670 Phase 4
10 Evaluation of Plasmatic Levels of Busulfan in Patients Undergoing Hematopoietic Stem Cell Transplantation Unknown status NCT01800643 Phase 2, Phase 3
11 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
12 Combination Chemotherapy With or Without Idarubicin and Peripheral Stem Cell Transplantation in Treating Patients With Leukemia or Myelodysplastic Syndrome Unknown status NCT00002989 Phase 3 busulfan;cyclophosphamide;idarubicin;melphalan
13 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
14 Study Comparing Efficacy and Safety of Mycophenolate Mofetil (Cellcept) With Delayed Introduction of Sirolimus and Discontinuation of Cyclosporine, With Those of Mycophenolate Mofetil and Long Term Continuation of Cyclosporine in Renal Transplant Recipien Completed NCT02686619 Phase 3 Cyclosporine;Daclizumab;Mycophenoate Mofetil;Prednisolone;Sirolimus
15 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
16 Association Corticosteroid/Azathioprine in Microscopic Polyangiitis/ Polyarteritis Nodosa or Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) Completed NCT00647166 Phase 3 corticosteroid and azathioprine;corticosteroid and placebo
17 Darbepoetin Alfa Compared With Epoetin Alfa in Treating Anemia in Patients Receiving Chemotherapy for Cancer Completed NCT00070382 Phase 3 darbepoetin alfa;epoetin alfa
18 Granulocyte Colony Stimulating Factor And Growth Hormone In Cirrhosis Of Liver: An Open Label Study Completed NCT02451033 Phase 2, Phase 3 standard medical therapy;G-CSF;Growth Hormone
19 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
20 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
21 Comparison of Nutritional Supplements in Preventing Weight Loss in Patients With Cancer Completed NCT00053053 Phase 3
22 Bone Marrow Transplantation in Treating Patients With Leukemia, Myelodysplasia, or Lymphoblastic Lymphoma Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
23 Darbepoetin Alfa With or Without Iron in Treating Anemia Caused By Chemotherapy in Patients With Cancer Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
24 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
25 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
26 Thymoglobuline Versus Alemtuzumab in Patients Undergoing Allogeneic Transplant Completed NCT00354120 Phase 2, Phase 3 Alentuzumab;Globulina antilinfocitaria
27 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
28 Single vs Double Umbilical Cord Blood Transplants in Children With High Risk Leukemia and Myelodysplasia (BMT CTN 0501) Completed NCT00412360 Phase 3 Cyclophosphamide;Fludarabine;Cyclosporine A;Mycophenolate Mofetil
29 Methotrexate or Pentostatin for Graft-versus-host Disease Prophylaxis in Risk-adapted Allogeneic Bone Marrow Transplantation for Hematologic Malignancies Completed NCT01188798 Phase 3 Methotrexate;Pentostatin
30 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
31 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
32 A Randomized Trial of Human Growth Hormone (hGH) vs Placebo in Intensively Treated Haemato-Oncology Patients. Completed NCT00300664 Phase 2, Phase 3 Human Growth hormone
33 Study of Oral LBH589 in Adult Patients With Refractory Cutaneous T-Cell Lymphoma Completed NCT00425555 Phase 2, Phase 3 Panobinostat
34 Laboratory-Treated Donor Bone Marrow in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Hematologic Cancer Completed NCT00265837 Phase 3
35 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa;Placebo
36 Randomized Study: Standard of Care With or Without Atorvastatin for Prevention of GVHD for Matched Unrelated Donor BMT Recruiting NCT03066466 Phase 3 Atorvastatin;Methotrexate;Tacrolimus
37 Stem Cell Transplantation From HLA Partially-Matched Related Donors for Patients With Hematologic Malignancies Recruiting NCT02566395 Phase 3 Cyclophosphamide
38 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
39 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
40 Safety and Efficacy of ATIR101 as Adjunctive Treatment to Blood Stem Cell Transplantation From a Haploidentical Family Donor Compared to Post-transplant Cyclophosphamide in Patients With Blood Cancer Not yet recruiting NCT02999854 Phase 3 Cyclophosphamide
41 Nonmyeloablative Preparative Regimen Using Mylotarg for Patients With High Risk Acute Myeloid Leukemia (AML), Acute Lymphocytic Leukemia (ALL), Chronic Myeloid Leukemia (CML) and Myelodysplastic Syndrome (MDS) Terminated NCT00038805 Phase 2, Phase 3 Mylotarg
42 Stem Cell Transplantation for Hematological Malignancies Terminated NCT00176839 Phase 2, Phase 3 Busulfan;Cyclophosphamide;Melphalan;G-CSF;ATG
43 Study of Human Monoclonal Antibody to Treat Mycosis Fungoides and Sezary Syndrome Terminated NCT00127881 Phase 3 HuMax-CD4 (zanolimumab)
44 Ultraviolet Light Therapy Using Methoxsalen With or Without Bexarotene in Treating Patients With Mycosis Fungoides Terminated NCT00056056 Phase 3 bexarotene;methoxypsoralen
45 Efficacy and Safety of a Donor Lymphocyte Preparation Depleted of Functional Host Alloreactive T-cells (ATIR) in Patients Undergoing a Peripheral Blood Stem Cell Transplant From a Related, Haploidentical Donor Terminated NCT00967343 Phase 2, Phase 3
46 Vaccine Therapy and GM-CSF in Treating Patients With CNS Lymphoma Unknown status NCT00621036 Phase 2 methotrexate;thiotepa
47 Brentuximab Vedotin + Rituximab as Frontline Therapy for Pts w/ CD30+ and/or EBV+ Lymphomas Unknown status NCT01805037 Phase 1, Phase 2 brentuximab vedotin
48 Study of ASC-101 in Patients With Hematologic Malignancies Who Receive Dual-cord Umbilical Cord Blood Transplantation Unknown status NCT01983761 Phase 1, Phase 2 Fludarabine, Clofarabine, Busulfan, ATG, TBI (Myeloablative);Fludarabine, Melphalan, ATG (Reduced Intensity)
49 Study of Alemtuzumab to Treat Advanced Mycosis Fungoides/Sezary Syndrome Unknown status NCT00157274 Phase 2 alemtuzumab
50 Combination Chemotherapy in Patients With Advanced or Recurrent Mycosis Fungoides Unknown status NCT00002557 Phase 2 CHOP regimen;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate

Search NIH Clinical Center for Lymphoproliferative Syndrome 2

Genetic Tests for Lymphoproliferative Syndrome 2

Genetic tests related to Lymphoproliferative Syndrome 2:

id Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 2 29 24 CD27

Anatomical Context for Lymphoproliferative Syndrome 2

MalaCards organs/tissues related to Lymphoproliferative Syndrome 2:

39
T Cells, Bone, Bone Marrow, Myeloid, B Cells, Kidney, Skin

Publications for Lymphoproliferative Syndrome 2

Variations for Lymphoproliferative Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 CD27 p.Cys53Tyr VAR_069793 rs397514667

ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CD27 NM_001242.4(CD27): c.24G> A (p.Trp8Ter) single nucleotide variant Pathogenic rs398122933 GRCh37 Chromosome 12, 6554285: 6554285
2 CD27 NM_001242.4(CD27): c.158G> A (p.Cys53Tyr) single nucleotide variant Pathogenic rs397514667 GRCh37 Chromosome 12, 6554611: 6554611

Expression for Lymphoproliferative Syndrome 2

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 2.

Pathways for Lymphoproliferative Syndrome 2

Pathways related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 BCL2L1 CD27 CD40LG CD70 CXCL10 IL2RA
2
Show member pathways
13.39 BCL2L1 CD27 CD40LG CD70 CXCL10 CXCR3
3
Show member pathways
13.18 CD27 CD40LG CD70 CXCL10 CXCR3 IL2RA
4
Show member pathways
13.02 CD27 CD40LG CD70 CXCL10 CXCR3 IL2RA
5
Show member pathways
12.87 BCL2L1 CD27 CD40LG CD70 CXCL10 IL2RA
6
Show member pathways
12.43 BCL2L1 CD27 CD70 MCL1 PIK3CD
7
Show member pathways
12.41 CD27 CD40LG CD70 PIK3CD
8
Show member pathways
12.38 BCL2L1 CD40LG IL2RA PIK3CD
9
Show member pathways
12.33 BCL2L1 FOXP3 IL2RA MCL1
10
Show member pathways
11.8 BCL2L1 IL2RA MCL1 PIK3CD
11 11.6 CD276 CD40LG CXCL10 FOXP3 GATA2 IL2RA
12
Show member pathways
11.56 CD27 CD40LG CD70
13
Show member pathways
11.49 CD40LG FOXP3 IL2RA
14
Show member pathways
11.41 BCL2L1 FOXP3 IL2RA
15 11.39 CD40LG FOXP3 IL2RA
16 11.03 CD27 CD276 CD40LG CD70
17 10.89 BCL2L1 MCL1

GO Terms for Lymphoproliferative Syndrome 2

Cellular components related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.1 CD27 CD276 CD40LG CXCL10 CXCR3 IL2RA
2 Bcl-2 family protein complex GO:0097136 8.96 BCL2L1 MCL1

Biological processes related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.85 BCL2L1 CD27 CXCR3 IL2RA MCL1
2 cell proliferation GO:0008283 9.83 BCL2L1 CD276 CD70 IL2RA
3 chemotaxis GO:0006935 9.76 CXCL10 CXCR3 PIK3CD
4 cell surface receptor signaling pathway GO:0007166 9.73 CD27 CXCL10 CXCR3 IL2RA
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.69 CD27 CD40LG CD70
6 immune response GO:0006955 9.63 CD27 CD276 CD40LG CD70 CXCL10 IL2RA
7 T cell homeostasis GO:0043029 9.59 FOXP3 IL2RA
8 cytokine production GO:0001816 9.58 FOXP3 PIK3CD
9 positive regulation of T cell proliferation GO:0042102 9.58 CD276 CD40LG IL2RA
10 apoptotic mitochondrial changes GO:0008637 9.57 BCL2L1 MCL1
11 response to virus GO:0009615 9.56 BANF1 BCL2L1 CXCL10 FOXP3
12 positive regulation of interleukin-4 production GO:0032753 9.55 CD40LG FOXP3
13 positive regulation of T cell differentiation GO:0045582 9.54 CD27 IL2RA
14 T cell activation GO:0042110 9.5 CD276 FOXP3 PIK3CD
15 cell fate determination GO:0001709 9.49 GATA2 MCL1
16 negative regulation of immune response GO:0050777 9.48 FOXP3 IL2RA
17 inflammatory response GO:0006954 9.43 CD27 CD40LG CXCL10 CXCR3 IL2RA PIK3CD
18 negative regulation of lymphocyte proliferation GO:0050672 9.37 FOXP3 IL2RA
19 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.26 BCL2L1
20 T cell chemotaxis GO:0010818 8.8 CXCL10 CXCR3 PIK3CD

Molecular functions related to Lymphoproliferative Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.96 CD40LG CD70
2 BH3 domain binding GO:0051434 8.62 BCL2L1 MCL1

Sources for Lymphoproliferative Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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