XLP1
MCID: LYM113
MIFTS: 60

Lymphoproliferative Syndrome, X-Linked, 1 (XLP1)

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

Aliases & Classifications for Lymphoproliferative Syndrome, X-Linked, 1

MalaCards integrated aliases for Lymphoproliferative Syndrome, X-Linked, 1:

Name: Lymphoproliferative Syndrome, X-Linked, 1 57 53 75
X-Linked Lymphoproliferative Syndrome 76 53 25 37 55 6
Purtilo Syndrome 57 76 53 25 59 75
Duncan Disease 57 24 53 25 59 75
Xlp 57 24 53 25 59
X-Linked Lymphoproliferative Disease 53 25 59 75
Xlp1 57 12 53 75
X-Linked Lymphoproliferative Syndrome 1 12 53 15
Lymphoproliferative Disease, X-Linked 57 24 53
Xlpd 57 53 75
Ebv Infection, Severe, Susceptibility to 57 53
Lymphoproliferative Syndrome 1, X-Linked 29 6
Immunodeficiency 5 57 75
Ebvs 57 53
Imd5 57 75
Lyp 57 76
Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males 25
X-Linked Progressive Combined Variable Immunodeficiency 5 53
Immunodeficiency, X-Linked Progressive Combined Variable 57
X-Linked Progressive Combined Variable Immunodeficiency 75
Sh2d1a-Related Lymphoproliferative Disease, X-Linked 53
Infectious Mononucleosis, Severe, Susceptibility to 57
Severe Susceptibility to Infectious Mononucleosis 25
Lymphoproliferative Syndrome, X-Linked, Type 1 40
Epstein-Barr Virus Infection, Familial Fatal 57
Epstein Barr Virus Infection, Familial Fatal 53
Lymphoproliferative Disease, X-Linked; Xlpd 57
Lymphoproliferative Syndrome X-Linked 1 53
Severe Susceptibility to Ebv Infection 25
Lymphoproliferative Syndrome, X-Linked 13
Familial Fatal Epstein-Barr Infection 25
X-Linked Lymphoproliferative Disorder 73
Infectious Mononucleosis, Severe 57
Ebv Infection, Severe ; Ebvs 57
Immunodeficiency 5; Imd5 57

Characteristics:

Orphanet epidemiological data:

59
x-linked lymphoproliferative disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
reduced life expectancy, death by 10 years of age in 70% of patients


HPO:

32
lymphoproliferative syndrome, x-linked, 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 308240
Disease Ontology 12 DOID:0060705
ICD10 33 D82.3
Orphanet 59 ORPHA2442
UMLS via Orphanet 74 C0549463
MESH via Orphanet 45 D008232
ICD10 via Orphanet 34 D82.3
MeSH 44 D008232
KEGG 37 H01969
UMLS 73 C0549463

Summaries for Lymphoproliferative Syndrome, X-Linked, 1

NIH Rare Diseases : 53 X-linked lymphoproliferative syndrome (XLP) is an immune system disorder that occurs almost exclusively in males. People with XLP have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells. The symptoms associated with XLP vary from person to person, and even among family members. In most cases, symptoms begin anywhere from 6 months of age to 10 years of age. XLP generally has two subtypes, which are caused by mutations in different genes:XLP1 is mainly characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection, leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis; dysgammaglobulinemia; and lymphoproliferative disease (malignant lymphoma). XLP2 is usually characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease (colitis). People with XLP2 have not been known to develop lymphoma. Signs and symptoms of HLH include fever, enlarged lymph nodes and spleen, skin rashes, and problems with the lungs, digestive system, liver, and nervous system. The heart, kidneys, or other organs may also be affected. Mononucleosis may cause fatigue; fever; an inflamed and sore throat; enlarged lymph nodes, liver, and spleen; and symptoms of anemia. Dysgammaglobulinemia causes an increased risk of recurrent infections. XLP1 is caused by mutations in the SH2D1A gene, and XLP2 is caused by mutations in the XIAP gene. Inheritance is X-linked recessive. However, in rare cases, females with a mutation on one copy of the responsible gene develop symptoms of XLP. A diagnosis of either type of XLP can be confirmed with genetic testing. Of note, there have been males with mutations known to cause XLP that have not developed symptoms. The only cure for XLP is allogeneic hematopoietic cell transplantation, which should be considered as early as possible. Treatment of XLP-related HLH may include immunosuppressive agents (such as steroids and etoposide or anti-thymocyte globulin), and rituximab when HLH is associated with EBV infection. Hypogammaglobulinemia is treated with IVIG replacement therapy, and lymphoma is treated with standard chemotherapy. Inflammatory bowel disease is treated with immunosuppression. Without treatment, many people with XLP do not survive beyond childhood, usually due to HLH. The average age of death for males has been reported as 11 years (with a range of 2-69 years) for XLP1, and 16 years (with a range of 1-52 years) for XLP2.

MalaCards based summary : Lymphoproliferative Syndrome, X-Linked, 1, also known as x-linked lymphoproliferative syndrome, is related to lymphoproliferative syndrome, x-linked, 2 and pfeiffer syndrome. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 1 is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Natural killer cell mediated cytotoxicity and Apoptosis. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has material basis in X-linked mutation in the SH2D1A gene on chromosome Xq25.

Genetics Home Reference : 25 X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects most humans. In some people it causes infectious mononucleosis (commonly known as "mono"). Normally, after initial infection, EBV remains in certain immune system cells (lymphocytes) called B cells. However, the virus is generally inactive (latent) because it is controlled by other lymphocytes called T cells that specifically target EBV-infected B cells.

OMIM : 57 X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis (Purtilo et al., 1977; Purtilo, 1981; Purtilo and Grierson, 1991; Coffey et al., 1998; Booth et al., 2011). (308240)

UniProtKB/Swiss-Prot : 75 Lymphoproliferative syndrome, X-linked, 1: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

Wikipedia : 76 Lymphomatoid papulosis (LyP) is a rare skin disorder. The overall prevalence rate of lymphomatoid... more...

GeneReviews: NBK1406

Related Diseases for Lymphoproliferative Syndrome, X-Linked, 1

Diseases in the Lymphoproliferative Syndrome, X-Linked, 1 family:

Lymphoproliferative Syndrome, X-Linked, 2

Diseases related to Lymphoproliferative Syndrome, X-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 317)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 2 31.3 SH2D1A STXBP2 XIAP
2 pfeiffer syndrome 30.1 SH2D1A SLAMF1
3 lymphoproliferative syndrome 30.0 CD244 PTPN11 SH2D1A SLAMF1 XIAP
4 hemophagocytic lymphohistiocytosis 29.4 CD244 FHL2 SH2D1A STXBP2 XIAP
5 lymphomatoid papulosis 12.3
6 chronic active epstein-barr virus infection 11.7
7 burkitt lymphoma 11.6
8 primary central nervous system lymphoma 11.4
9 epstein-barr virus-associated gastric carcinoma 11.4
10 oral hairy leukoplakia 11.3
11 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 11.2
12 congenital epstein-barr virus infection 11.2
13 immunodeficiency, common variable, 5 11.2
14 protoporphyria, erythropoietic, x-linked 11.1
15 immunodeficiency 20 11.1
16 immunodeficiency 24 11.1
17 immunodeficiency 58 11.1
18 lymphoproliferative syndrome 1 11.1
19 lymphoproliferative syndrome 2 11.1
20 immunodeficiency 32b 11.0
21 epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly 11.0
22 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.9
23 aminoacylase 1 deficiency 10.9
24 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 10.9
25 immunodeficiency 14 10.9
26 b-cell expansion with nfkb and t-cell anergy 10.9
27 intraocular lymphoma 10.9
28 acute retinal necrosis syndrome 10.9
29 nasopharyngeal carcinoma 10.6
30 autoimmune lymphoproliferative syndrome, type v 10.5
31 post-transplant lymphoproliferative disease 10.4
32 lymphopenia 10.3
33 autoimmune disease 10.3
34 leukemia 10.2
35 autoimmune disease 1 10.2
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
37 peripheral t-cell lymphoma 10.2
38 lymphoepithelioma-like carcinoma 10.2
39 hematopoietic stem cell transplantation 10.2
40 gastric cancer 10.1
41 primary effusion lymphoma 10.1
42 spondylocarpotarsal synostosis syndrome 10.1
43 arthritis 10.1
44 multiple sclerosis 10.1
45 rheumatoid arthritis 10.1
46 anaplastic large cell lymphoma 10.1
47 b-cell lymphomas 10.1
48 diffuse large b-cell lymphoma 10.1
49 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.1
50 hydroa vacciniforme 10.1

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome, X-Linked, 1:



Diseases related to Lymphoproliferative Syndrome, X-Linked, 1

Symptoms & Phenotypes for Lymphoproliferative Syndrome, X-Linked, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
encephalitis
meningitis
hepatic encephalopathy

Abdomen Liver:
hepatomegaly
liver failure
fulminant hepatitis

Neoplasia:
lymphoma
hemophagocytic lymphohistiocytosis

Respiratory Nasopharynx:
pharyngitis

Laboratory Abnormalities:
reduced igg levels
increased igm levels

Abdomen Spleen:
splenomegaly

Hematology:
anemia
pancytopenia
thrombocytopenia
atypical lymphocytosis

Immunology:
lymphadenopathy
normal number of b cells
normal number of t cells
combined variable immunodeficiency involving b and t cells
reduced cd4+/cd8+ ratio with cd8+ predominance
more
Respiratory Lung:
lymphoid granulomatosis


Clinical features from OMIM:

308240

Human phenotypes related to Lymphoproliferative Syndrome, X-Linked, 1:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
2 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
3 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 decreased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0004313
5 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
6 lymphoma 59 32 frequent (33%) Frequent (79-30%) HP:0002665
7 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
8 encephalitis 32 HP:0002383
9 immunodeficiency 32 HP:0002721
10 pancytopenia 32 HP:0001876
11 thrombocytopenia 32 HP:0001873
12 recurrent pharyngitis 32 HP:0100776
13 meningitis 32 HP:0001287
14 igg deficiency 32 HP:0004315
15 increased igm level 32 HP:0003496
16 lymphocytosis 32 HP:0100827
17 hepatic encephalopathy 32 HP:0002480
18 fulminant hepatitis 32 HP:0004787
19 reduced natural killer cell activity 32 HP:0012178

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 CD226 CD244 PTPN11 SH2D1A SLAMF1 STXBP2
2 immune system MP:0005387 9.23 CD226 CD244 PTPN11 SH2D1A SLAMF1 STXBP2

Drugs & Therapeutics for Lymphoproliferative Syndrome, X-Linked, 1

Drugs for Lymphoproliferative Syndrome, X-Linked, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
3 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
4 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
5 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
6 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
7 Thymoglobulin Phase 2, Phase 3,Phase 1
8
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
9
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
12
Fludarabine Approved Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
13
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
14
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2 52-24-4 5453
15 Antirheumatic Agents Phase 2,Not Applicable
16 Calcineurin Inhibitors Phase 2,Not Applicable
17 Antimetabolites, Antineoplastic Phase 2,Phase 1,Not Applicable
18 Antilymphocyte Serum Phase 2,Phase 1,Not Applicable
19 Antifungal Agents Phase 2,Not Applicable
20 Antimetabolites Phase 2,Phase 1,Not Applicable
21 Cyclosporins Phase 2,Not Applicable
22 Anti-Infective Agents Phase 2,Not Applicable
23 Dermatologic Agents Phase 2,Not Applicable
24 Antibiotics, Antitubercular Phase 2
25 Immunoglobulins, Intravenous Phase 2
26 gamma-Globulins Phase 2
27 Rho(D) Immune Globulin Phase 2
28 Antitubercular Agents Phase 2
29 Immunoglobulins Phase 2
30 Antibodies Phase 2
31 Anti-Bacterial Agents Phase 2
32 Antiviral Agents Phase 2,Not Applicable
33 Tin Fluorides Phase 2
34
leucovorin Approved Not Applicable 58-05-9 6006 143
35
Methotrexate Approved Not Applicable 59-05-2, 1959-05-2 126941
36
Lenograstim Approved, Investigational Not Applicable 135968-09-1
37
Etoposide Approved Not Applicable 33419-42-0 36462
38
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
39
Mesna Approved, Investigational Not Applicable 3375-50-6 598
40
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
41
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
42
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
43
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
44
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
45
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
46
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
47 Antineoplastic Agents, Phytogenic Not Applicable
48 Vitamin B Complex Not Applicable
49 Etoposide phosphate Not Applicable
50 Topoisomerase Inhibitors Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
2 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
3 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
4 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
5 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
6 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
7 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
8 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
9 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
10 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
11 Genetic Studies of X-linked Lymphoproliferative Disease Completed NCT00359411
12 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
13 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Lymphoproliferative Syndrome, X-Linked, 1

Genetic Tests for Lymphoproliferative Syndrome, X-Linked, 1

Genetic tests related to Lymphoproliferative Syndrome, X-Linked, 1:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 1, X-Linked 29 SH2D1A XIAP

Anatomical Context for Lymphoproliferative Syndrome, X-Linked, 1

MalaCards organs/tissues related to Lymphoproliferative Syndrome, X-Linked, 1:

41
Skin, T Cells, B Cells, Liver, Lymph Node, Spleen, Lung

Publications for Lymphoproliferative Syndrome, X-Linked, 1

Articles related to Lymphoproliferative Syndrome, X-Linked, 1:

(show top 50) (show all 83)
# Title Authors Year
1
Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome. ( 29233820 )
2018
2
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. ( 29649976 )
2018
3
Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. ( 30342818 )
2018
4
Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1. ( 30459818 )
2018
5
Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma. ( 28267077 )
2017
6
Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature. ( 27288720 )
2016
7
X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome. ( 25737324 )
2015
8
Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1. ( 25044636 )
2014
9
Interleukin-21 overexpression dominates T cell response to Epstein-Barr virus in a fatal case of X-linked lymphoproliferative syndrome type 1. ( 23467775 )
2013
10
Clinical and genetic features of 5 Chinese patients with X-linked lymphoproliferative syndrome. ( 23944711 )
2013
11
Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2. ( 22325832 )
2012
12
Inflammatory polyps following successful HLA-matched cord blood transplantation in a patient with X-linked lymphoproliferative syndrome. ( 21736679 )
2012
13
Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. ( 22433061 )
2012
14
A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature. ( 20975587 )
2011
15
X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis. ( 21541208 )
2011
16
X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. ( 21083659 )
2011
17
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). ( 21119115 )
2011
18
Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. ( 20632414 )
2011
19
Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). ( 19595300 )
2009
20
The X-linked lymphoproliferative syndrome gene product SAP regulates B cell function through the FcgammaRIIB receptor. ( 18662772 )
2008
21
Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. ( 18702745 )
2008
22
Natural killer T cells and X-linked lymphoproliferative syndrome. ( 17989527 )
2007
23
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. ( 17080092 )
2006
24
Treatment of HCV infection with interferon alpha-2b and ribavirin in a patient with X-linked lymphoproliferative syndrome. ( 16463052 )
2006
25
X-linked lymphoproliferative syndrome: an X-cellent question. ( 16581296 )
2006
26
X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis. ( 15682426 )
2005
27
The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome. ( 15992610 )
2005
28
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. ( 15738056 )
2005
29
Abnormal T cell receptor signal transduction of CD4 Th cells in X-linked lymphoproliferative syndrome. ( 11509608 )
2001
30
Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome. ( 10975798 )
2000
31
Potential pathways for regulation of NK and T cell responses: differential X-linked lymphoproliferative syndrome gene product SAP interactions with SLAM and 2B4. ( 11099315 )
2000
32
The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B. ( 10852966 )
2000
33
X-linked lymphoproliferative syndrome. ( 11122230 )
2000
34
The abnormal gene in X-linked lymphoproliferative syndrome. ( 10448142 )
1999
35
A boy with fatal infectious mononucleosis suspected as the first Japanese case of X-linked lymphoproliferative syndrome. ( 10225392 )
1998
36
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. ( 9811875 )
1998
37
Epstein-Barr virus-infected B cells of males with the X-linked lymphoproliferative syndrome stimulate and are susceptible to T-cell-mediated lysis. ( 9610728 )
1998
38
High-resolution mapping of the X-linked lymphoproliferative syndrome region by FISH on combed DNA. ( 9730614 )
1998
39
Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region. ( 9043868 )
1996
40
Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis. ( 8054918 )
1994
41
Physical mapping of Xq24-25 around loci closely linked to the X-linked lymphoproliferative syndrome locus: an overlapping YAC map and linkage between DXS12, DXS42, and DXS37. ( 8069652 )
1993
42
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. ( 8167706 )
1993
43
X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome. ( 1971202 )
1990
44
Immunovirological studies of fatal infectious mononucleosis in a patient with X-linked lymphoproliferative syndrome treated with intravenous immunoglobulin and interferon-alpha. ( 2302842 )
1990
45
Interferon-gamma in a family with X-linked lymphoproliferative syndrome with acute Epstein-Barr virus infection. ( 2539385 )
1989
46
X-linked lymphoproliferative syndrome. ( 2561059 )
1989
47
Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. ( 2567695 )
1989
48
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. ( 2567696 )
1989
49
Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome. ( 2574086 )
1989
50
X-linked lymphoproliferative syndrome. Identification of a large family in Switzerland. ( 3348254 )
1988

Variations for Lymphoproliferative Syndrome, X-Linked, 1

UniProtKB/Swiss-Prot genetic disease variations for Lymphoproliferative Syndrome, X-Linked, 1:

75 (show all 19)
# Symbol AA change Variation ID SNP ID
1 SH2D1A p.Arg32Thr VAR_005612 rs111033624
2 SH2D1A p.Thr68Ile VAR_005613 rs111033627
3 SH2D1A p.Pro101Leu VAR_005614 rs111033626
4 SH2D1A p.Arg55Leu VAR_018307 rs111033630
5 SH2D1A p.Tyr7Cys VAR_048005
6 SH2D1A p.His8Asp VAR_048006
7 SH2D1A p.Gly16Asp VAR_048007
8 SH2D1A p.Gly27Ser VAR_048008
9 SH2D1A p.Ser28Arg VAR_048009
10 SH2D1A p.Leu31Pro VAR_048010
11 SH2D1A p.Asp33Tyr VAR_048011
12 SH2D1A p.Cys42Trp VAR_048012
13 SH2D1A p.Gly49Val VAR_048013
14 SH2D1A p.Thr53Ile VAR_048014
15 SH2D1A p.Tyr54Cys VAR_048015
16 SH2D1A p.Ile84Thr VAR_048017
17 SH2D1A p.Phe87Ser VAR_048018
18 SH2D1A p.Gln99Pro VAR_048019
19 SH2D1A p.Val102Gly VAR_048020

ClinVar genetic disease variations for Lymphoproliferative Syndrome, X-Linked, 1:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH2D1A NM_002351.4(SH2D1A): c.163C> T (p.Arg55Ter) single nucleotide variant Pathogenic rs111033623 GRCh37 Chromosome X, 123499636: 123499636
2 SH2D1A NM_002351.4(SH2D1A): c.163C> T (p.Arg55Ter) single nucleotide variant Pathogenic rs111033623 GRCh38 Chromosome X, 124365786: 124365786
3 SH2D1A NM_002351.4(SH2D1A): c.172C> T (p.Gln58Ter) single nucleotide variant Pathogenic rs111033628 GRCh37 Chromosome X, 123499645: 123499645
4 SH2D1A NM_002351.4(SH2D1A): c.172C> T (p.Gln58Ter) single nucleotide variant Pathogenic rs111033628 GRCh38 Chromosome X, 124365795: 124365795
5 SH2D1A SH2D1A, 159-BP DEL deletion Pathogenic
6 SH2D1A NM_002351.4(SH2D1A): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs111033624 GRCh37 Chromosome X, 123480587: 123480587
7 SH2D1A NM_002351.4(SH2D1A): c.95G> C (p.Arg32Thr) single nucleotide variant Pathogenic rs111033624 GRCh38 Chromosome X, 124346737: 124346737
8 SH2D1A SH2D1A, IVS2AS, G-T, -1 single nucleotide variant Pathogenic
9 SH2D1A NM_002351.4(SH2D1A): c.385T> A (p.Ter129Arg) single nucleotide variant Pathogenic rs111033625 GRCh37 Chromosome X, 123505239: 123505239
10 SH2D1A NM_002351.4(SH2D1A): c.385T> A (p.Ter129Arg) single nucleotide variant Pathogenic rs111033625 GRCh38 Chromosome X, 124371389: 124371389
11 SH2D1A NM_002351.4(SH2D1A): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs111033626 GRCh37 Chromosome X, 123504126: 123504126
12 SH2D1A NM_002351.4(SH2D1A): c.302C> T (p.Pro101Leu) single nucleotide variant Pathogenic rs111033626 GRCh38 Chromosome X, 124370276: 124370276
13 SH2D1A NM_002351.4(SH2D1A): c.203C> T (p.Thr68Ile) single nucleotide variant Pathogenic rs111033627 GRCh37 Chromosome X, 123504027: 123504027
14 SH2D1A NM_002351.4(SH2D1A): c.203C> T (p.Thr68Ile) single nucleotide variant Pathogenic rs111033627 GRCh38 Chromosome X, 124370177: 124370177
15 SH2D1A SH2D1A, -10C-T single nucleotide variant Pathogenic
16 SH2D1A SH2D1A, EX1DEL deletion Pathogenic
17 SH2D1A NM_002351.4(SH2D1A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs111033629 GRCh37 Chromosome X, 123480495: 123480495
18 SH2D1A NM_002351.4(SH2D1A): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs111033629 GRCh38 Chromosome X, 124346645: 124346645
19 SH2D1A SH2D1A, 163C-T single nucleotide variant Pathogenic
20 SH2D1A NM_002351.4(SH2D1A): c.164G> T (p.Arg55Leu) single nucleotide variant Pathogenic rs111033630 GRCh37 Chromosome X, 123499637: 123499637
21 SH2D1A NM_002351.4(SH2D1A): c.164G> T (p.Arg55Leu) single nucleotide variant Pathogenic rs111033630 GRCh38 Chromosome X, 124365787: 124365787
22 SH2D1A NM_002351.4(SH2D1A): c.137+5G> C single nucleotide variant Pathogenic rs587777612 GRCh37 Chromosome X, 123480634: 123480634
23 SH2D1A NM_002351.4(SH2D1A): c.137+5G> C single nucleotide variant Pathogenic rs587777612 GRCh38 Chromosome X, 124346784: 124346784
24 SH2D1A NM_002351.4(SH2D1A): c.48C> A (p.Gly16=) single nucleotide variant Benign/Likely benign rs72610640 GRCh37 Chromosome X, 123480540: 123480540
25 SH2D1A NM_002351.4(SH2D1A): c.48C> A (p.Gly16=) single nucleotide variant Benign/Likely benign rs72610640 GRCh38 Chromosome X, 124346690: 124346690
26 SH2D1A NM_002351.4(SH2D1A): c.116G> T (p.Gly39Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 124346758: 124346758
27 SH2D1A NM_002351.4(SH2D1A): c.116G> T (p.Gly39Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 123480608: 123480608
28 SH2D1A NM_002351.4(SH2D1A): c.5A> G (p.Asp2Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 124346647: 124346647
29 SH2D1A NM_002351.4(SH2D1A): c.5A> G (p.Asp2Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 123480497: 123480497
30 SH2D1A NM_002351.4(SH2D1A): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123499665: 123499665
31 SH2D1A NM_002351.4(SH2D1A): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 124365815: 124365815
32 SH2D1A NM_002351.4(SH2D1A): c.385T> C (p.Ter129Arg) single nucleotide variant Likely pathogenic rs111033625 GRCh38 Chromosome X, 124371389: 124371389
33 SH2D1A NM_002351.4(SH2D1A): c.385T> C (p.Ter129Arg) single nucleotide variant Likely pathogenic rs111033625 GRCh37 Chromosome X, 123505239: 123505239
34 SH2D1A NM_002351.4(SH2D1A): c.138-3C> G single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 123499608: 123499608
35 SH2D1A NM_002351.4(SH2D1A): c.138-3C> G single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 124365758: 124365758
36 SH2D1A NC_000023.11: g.(?_124346297)_(124371411_?)del deletion Pathogenic GRCh38 Chromosome X, 124346297: 124371411
37 SH2D1A NC_000023.11: g.(?_124346297)_(124371411_?)del deletion Pathogenic GRCh37 Chromosome X, 123480147: 123505261
38 SH2D1A NC_000023.11: g.(?_124365741)_(124371411_?)del deletion Pathogenic GRCh38 Chromosome X, 124365741: 124371411
39 SH2D1A NC_000023.11: g.(?_124365741)_(124371411_?)del deletion Pathogenic GRCh37 Chromosome X, 123499591: 123505261

Expression for Lymphoproliferative Syndrome, X-Linked, 1

Search GEO for disease gene expression data for Lymphoproliferative Syndrome, X-Linked, 1.

Pathways for Lymphoproliferative Syndrome, X-Linked, 1

Pathways related to Lymphoproliferative Syndrome, X-Linked, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Natural killer cell mediated cytotoxicity hsa04650
2 Apoptosis hsa04210

GO Terms for Lymphoproliferative Syndrome, X-Linked, 1

Biological processes related to Lymphoproliferative Syndrome, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.33 CD244 SH2D1A SLAMF1
2 positive regulation of signal transduction GO:0009967 9.26 PTPN11 SH2D1A
3 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 8.96 CD226 SH2D1A
4 innate immune response GO:0045087 8.92 CD244 SH2D1A SLAMF1 TOLLIP

Molecular functions related to Lymphoproliferative Syndrome, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.28 CD226 CD244 FHL2 PTPN11 SH2D1A SLAMF1
2 cell adhesion molecule binding GO:0050839 9.16 CD226 PTPN11
3 SH3/SH2 adaptor activity GO:0005070 8.96 PTPN11 SH2D1A

Sources for Lymphoproliferative Syndrome, X-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....