XLP1
MCID: LYM113
MIFTS: 67

Lymphoproliferative Syndrome, X-Linked, 1 (XLP1)

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lymphoproliferative Syndrome, X-Linked, 1

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

Name: Lymphoproliferative Syndrome, X-Linked, 1 57 73
Lymphomatoid Papulosis 19 58 75 53 16 71 31 33
X-Linked Lymphoproliferative Syndrome 19 42 75 28 53 5
Purtilo Syndrome 57 19 42 58 75 73
Duncan Disease 57 24 19 42 58 73
X-Linked Lymphoproliferative Disease 19 42 58 73 75
Xlp 57 24 19 42 58
Xlp1 57 11 58 73
Lyp 57 19 58 75
X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency 58 28 5
Lymphoproliferative Disease, X-Linked 57 24 19
Xlpd 57 19 73
Ebv Infection, Severe, Susceptibility to 57 19
X-Linked Lymphoproliferative Syndrome 1 11 14
Immunodeficiency 5 57 73
Ebvs 57 19
Imd5 57 73
Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males 42
X-Linked Progressive Combined Variable Immunodeficiency 5 19
Immunodeficiency, X-Linked Progressive Combined Variable 57
X-Linked Progressive Combined Variable Immunodeficiency 73
Infectious Mononucleosis, Severe, Susceptibility to 57
Severe Susceptibility to Infectious Mononucleosis 42
Epstein-Barr Virus Infection, Familial Fatal 57
Epstein Barr Virus Infection, Familial Fatal 19
X-Linked Lymphoproliferative Syndrome Type 1 58
Sh2d1a/slam-Associated Protein Deficiency 58
Severe Susceptibility to Ebv Infection 42
Lymphoproliferative Syndrome, X-Linked 12
Familial Fatal Epstein-Barr Infection 42
X-Linked Lymphoproliferative Disorder 71
Infectious Mononucleosis, Severe 57
Ebv Infection, Severe 57
Sap Deficiency 58
Sap 16

Characteristics:


Inheritance:

Lymphoproliferative Syndrome, X-Linked, 1: X-linked recessive 57
X-Linked Lymphoproliferative Disease: X-linked recessive 58
X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency: X-linked recessive 58

Prevelance:

X-Linked Lymphoproliferative Disease: <1/1000000 (Europe, China) 58
X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

X-Linked Lymphoproliferative Disease: Adolescent,Adult,Childhood,Infancy 58
X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency: Adolescent,Adult,Childhood,Infancy 58
Lymphomatoid Papulosis: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
reduced life expectancy, death by 10 years of age in 70% of patients


Classifications:

Orphanet: 58  
Rare skin diseases
Rare haematological diseases
Rare immunological diseases


Summaries for Lymphoproliferative Syndrome, X-Linked, 1

MedlinePlus Genetics: 42 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.People with XLP may respond to EBV infection by producing abnormally large numbers of T cells, B cells, and other lymphocytes called macrophages. This proliferation of immune cells often causes a life-threatening reaction called hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis causes fever, destroys blood-producing cells in the bone marrow, and damages the liver. The spleen, heart, kidneys, and other organs and tissues may also be affected. In some individuals with XLP, hemophagocytic lymphohistiocytosis or related symptoms may occur without EBV infection.About one-third of people with XLP experience dysgammaglobulinemia, which means they have abnormal levels of some types of antibodies. Antibodies (also known as immunoglobulins) are proteins that attach to specific foreign particles and germs, marking them for destruction. Individuals with dysgammaglobulinemia are prone to recurrent infections.Cancers of immune system cells (lymphomas) occur in about one-third of people with XLP.Without treatment, most people with XLP survive only into childhood. Death usually results from hemophagocytic lymphohistiocytosis.XLP can be divided into two types based on its genetic cause and pattern of signs and symptoms: XLP1 (also known as classic XLP) and XLP2. People with XLP2 have not been known to develop lymphoma, are more likely to develop hemophagocytic lymphohistiocytosis without EBV infection, usually have an enlarged spleen (splenomegaly), and may also have inflammation of the large intestine (colitis). Some researchers believe that these individuals should actually be considered to have a similar but separate disorder rather than a type of XLP.

MalaCards based summary: Lymphoproliferative Syndrome, X-Linked, 1, also known as lymphomatoid papulosis, is related to primary cutaneous anaplastic large cell lymphoma and lymphoproliferative syndrome, x-linked, 2. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 1 is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Signal Transduction and Akt Signaling. The drugs Cytarabine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and bone marrow, and related phenotypes are fever and cervical lymphadenopathy

GARD: 19 Lymphomatoid papulosis (LyP) is a non-contagious, chronic skin condition characterized by the eruption of recurring, self-healing bumps (lesions) on the skin. The lesions typically begin small and then become larger, and they may bleed or ulcerate before becoming scaly and crusty. They often develop a red-brown color. Symptoms associated with lesions may include itching and/or pain, which may be debilitating. The frequency of eruptions varies over time and from person to person. Lesions may be very persistent, or they may go away for long periods of time before coming back. They may occur anywhere on the body, but they typically develop on the trunk, arms, and legs, and may develop on the hands, face, and genitalia. They generally go away on their own over a period of weeks to months (usually between 3 and 8 weeks), with or without scarring. LyP is not contagious. The cause of LyP is not known, but there is no evidence that it is hereditary. Stress is often reported to trigger eruptions of lesions. A diagnosis of LyP requires evaluating the symptoms and having a skin biopsy for various types of laboratory tests. While LyP usually is not classified as a cancer (although there has been some debate), it has characteristics of lymphoma under the microscope, and people with LyP have a life-long increased risk of developing lymphoma such as mycosis fungoides, PC-ALCL, or Hodgkin lymphoma. In 5 to 20 percent of people with LyP, the condition is either preceded by lymphoma, associated with lymphoma, or followed by lymphoma. When LyP is diagnosed it is important to rule out these cancers, and for this reason, various blood tests or imaging studies may also be recommended.

Orphanet 58 X-linked lymphoproliferative disease due to sh2d1a deficiency: A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.

Lymphomatoid papulosis: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection 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.

UniProtKB/Swiss-Prot: 73 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 75 Lymphomatoid papulosis: Lymphomatoid papulosis (LyP) is a rare skin disorder. The overall prevalence rate of lymphomatoid... more...

Purtilo syndrome: X-linked lymphoproliferative disease (also known as Duncan disease: 86 or Purtilo syndrome and... 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 558)
# Related Disease Score Top Affiliating Genes
1 primary cutaneous anaplastic large cell lymphoma 32.6 TYK2 NPM1
2 lymphoproliferative syndrome, x-linked, 2 31.7 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
3 lymphoproliferative syndrome 1 31.7 XIAP UNC13D STXBP2 STX11
4 mycosis fungoides 31.7 TNFRSF8 TIA1 GZMB CCR4 ALK
5 primary cutaneous t-cell non-hodgkin lymphoma 31.3 TNFRSF8 TIA1 GZMB FAS CCR4
6 lymphoproliferative syndrome 2 31.2 XIAP UNC13D STXBP2 STX11 SLAMF6 SLAMF1
7 reticulosarcoma 31.0 TNFRSF8 TIA1 NPM1 GZMB ALK
8 follicular mucinosis 30.8 TNFRSF8 TIA1
9 lymphopenia 30.8 TYK2 MAGT1 FASLG FAS
10 hematologic cancer 30.8 XIAP TNFRSF8 PTPN11 NPM1 ALK
11 peripheral t-cell lymphoma 30.8 TNFRSF8 TIA1 GZMB CCR4 ALK
12 nasal type extranodal nk/t-cell lymphoma 30.7 TNFRSF8 TIA1 GZMB
13 sezary's disease 30.6 TNFRSF8 TIA1 CCR4 ALK
14 panniculitis 30.5 TIA1 GZMB FASLG FAS
15 hemophagocytic lymphohistiocytosis, familial, 1 30.5 UNC13D STXBP2 STX11 SH2D1A
16 aplastic anemia 30.5 SH2D1A GZMB FASLG FAS
17 lethal midline granuloma 30.5 TNFRSF8 TIA1 GZMB
18 gastrointestinal lymphoma 30.4 TNFRSF8 TIA1
19 angioimmunoblastic t-cell lymphoma 30.4 TNFRSF8 TIA1 ALK
20 pfeiffer syndrome 30.4 TNFRSF8 SLAMF6 SLAMF1 SH2D1A PTPN11
21 t-cell acute lymphoblastic leukemia 30.4 XIAP TNFRSF8 FASLG FAS CCR4
22 myeloma, multiple 30.4 XIAP TYK2 TNFRSF8 PTPN11 FASLG FAS
23 mature t-cell and nk-cell lymphoma 30.3 TNFRSF8 TIA1 GZMB ALK
24 viral infectious disease 30.3 SLAMF1 PTPN11 GZMB FAS
25 lymphomatoid granulomatosis 30.3 TIA1 GZMB
26 sjogren syndrome 30.3 GZMB FASLG FAS
27 common variable immunodeficiency 30.3 XIAP TNFRSF8 SH2D1A GZMB FAS
28 b-cell lymphoma 30.2 XIAP TNFRSF8 TIA1 NPM1 FAS ALK
29 lymphoproliferative syndrome 30.2 XIAP UNC13D TNFRSF8 TIA1 SLAMF6 SLAMF1
30 immune deficiency disease 30.2 TNFRSF8 SLAMF1 SH2D1A FASLG FAS CCR4
31 anaplastic large cell lymphoma 30.1 TNFRSF8 NPM1 GZMB CCR4 ALK ACVRL1
32 lymphoma 30.1 XIAP TNFRSF8 TIA1 SH2D1A PTPN11 NPM1
33 hemophagocytic lymphohistiocytosis 30.1 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
34 rheumatoid arthritis 30.0 SH2D1A GZMB FASLG FAS CD244 CCR4
35 leukemia, acute myeloid 30.0 XIAP TNFRSF8 SLAMF1 PTPN11 NPM1 GZMB
36 pancytopenia 30.0 XIAP UNC13D STXBP2 STX11 SH2D1A
37 lymphoma, non-hodgkin, familial 30.0 XIAP TNFRSF8 SH2D1A NPM1 GZMB FAS
38 lymphoma, hodgkin, classic 29.9 TNFRSF8 TIA1 SLAMF1 SH2D1A GZMB CCR4
39 dysgammaglobulinemia 29.9 XIAP STXBP2 SLAMF6 SLAMF1 SH2D1A MAGT1
40 leukemia, chronic lymphocytic 29.8 XIAP TNFRSF8 PTPN11 NPM1 GZMB FAS
41 neuroblastoma 29.6 XIAP PTPN11 NPM1 FASLG FAS ALK
42 autoimmune lymphoproliferative syndrome 29.5 XIAP UNC13D STXBP2 SH2D1A MAGT1 FASLG
43 combined saposin deficiency 11.4
44 metachromatic leukodystrophy due to saposin b deficiency 11.2
45 immunodeficiency, common variable, 5 11.0
46 fungal infectious disease 11.0
47 lymphoproliferative syndrome 3 10.9
48 pityriasis lichenoides 10.7
49 skin disease 10.7
50 pityriasis lichenoides et varioliformis acuta 10.6

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

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

58 30 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
2 cervical lymphadenopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0025289
3 decreased circulating igg level 58 30 Frequent (33%) Frequent (79-30%)
HP:0004315
4 b-cell lymphoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0012191
5 hemophagocytosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0012156
6 histiocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100727
7 dysgammaglobulinemia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002961
8 enlarged tonsils 58 30 Frequent (33%) Frequent (79-30%)
HP:0030812
9 severe epstein barr virus infection 58 30 Very rare (1%) Frequent (79-30%)
HP:0031693
10 recurrent respiratory infections 58 30 Very rare (1%) Occasional (29-5%)
HP:0002205
11 hypertriglyceridemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002155
12 elevated hepatic transaminase 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002910
13 bone marrow hypocellularity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005528
14 hepatosplenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001433
15 decreased circulating iga level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002720
16 decreased circulating total igm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002850
17 increased circulating iga level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003261
18 increased circulating igm level 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003496
19 b lymphocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010976
20 hypofibrinogenemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011900
21 increased t cell count 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100828
22 absent natural killer cells 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040219
23 increased b cell count 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005404
24 reduced natural killer cell count 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040218
25 increased proportion of cd25+ mast cells 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031408
26 t lymphocytopenia 30 Occasional (7.5%) HP:0005403
27 increased circulating ferritin concentration 30 Occasional (7.5%) HP:0003281
28 splenomegaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0001744
29 autoimmunity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002960
30 myocarditis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012819
31 vasculitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002633
32 granulomatosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002955
33 colitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002583
34 fulminant hepatitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004787
35 nephritis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000123
36 hepatic necrosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002605
37 burkitt lymphoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030080
38 aplastic anemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001915
39 pulmonary granulomatosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030250
40 hepatomegaly 30 Very rare (1%) HP:0002240
41 meningitis 30 Very rare (1%) HP:0001287
42 neutropenia 30 Very rare (1%) HP:0001875
43 hypoalbuminemia 30 Very rare (1%) HP:0003073
44 recurrent fever 30 Very rare (1%) HP:0001954
45 reduced natural killer cell activity 30 Very rare (1%) HP:0012178
46 elevated circulating c-reactive protein concentration 30 Very rare (1%) HP:0011227
47 lymphadenopathy 58 30 Occasional (29-5%)
HP:0002716
48 lymphocytosis 58 30 Frequent (79-30%)
HP:0100827
49 immunodeficiency 30 HP:0002721
50 inflammation of the large intestine 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
encephalitis
meningitis
hepatic encephalopathy

Abdomen Liver:
hepatomegaly
fulminant hepatitis
liver failure

Neoplasia:
lymphoma
hemophagocytic lymphohistiocytosis

Respiratory Nasopharynx:
pharyngitis

Respiratory Lung:
lymphoid granulomatosis

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
pancytopenia
atypical lymphocytosis

Immunology:
lymphadenopathy
reduced natural killer cell activity
normal number of b cells
normal number of t cells
combined variable immunodeficiency involving b and t cells
more
Laboratory Abnormalities:
reduced igg levels
increased igm levels

Clinical features from OMIM®:

308240 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 ACVRL1 ALK CCR4 CD244 FAS FASLG
2 no effect GR00402-S-2 10.19 ACVRL1 ALK CCR4 FAS GZMB MAGT1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10.11 CCR4 CD244 FAS FASLG GZMB MAGT1
2 normal MP:0002873 9.86 ACVRL1 ALK FAS FASLG MAGT1 PTPN11
3 hematopoietic system MP:0005397 9.6 ACVRL1 CCR4 CD244 FAS FASLG GZMB
4 respiratory system MP:0005388 9.5 ACVRL1 ALK CCR4 FAS FASLG PTPN11

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 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
2
Melphalan Approved Phase 2 148-82-3 4053 460612
3
Brentuximab vedotin Approved, Investigational Phase 2 914088-09-8
4
Lenalidomide Approved Phase 2 191732-72-6 216326
5
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
6
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
10 Anti-Infective Agents Phase 2
11 Antimetabolites Phase 2
12 Antiviral Agents Phase 2
13 Immunoglobulins Phase 2
14 Antibodies, Monoclonal Phase 2
15 Antibodies Phase 2
16 Antineoplastic Agents, Immunological Phase 2
17 Immunoglobulins, Intravenous Phase 2
18 Immunoconjugates Phase 2
19 Angiogenesis Inhibitors Phase 2
20 Antilymphocyte Serum Phase 1, Phase 2
21 Thymoglobulin Phase 1, Phase 2
22 Immunologic Factors Phase 2
23 Alkylating Agents Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Immunosuppressive Agents Phase 2
26 Antirheumatic Agents Phase 2
27 Tin Fluorides Phase 2
28 Bendamustine Hydrochloride Phase 1
29
Lenograstim Approved, Investigational 135968-09-1
30
Vidarabine Approved, Investigational 24356-66-9 21704
31
Coenzyme M Approved, Investigational 3375-50-6 598 23662354
32
Bexarotene Approved, Investigational 153559-49-0 82146
33
Ethanol Approved 64-17-5 702
34
Triamcinolone Approved, Vet_approved 124-94-7 31307
35
Mechlorethamine Approved, Investigational 51-75-2 4033
36
Etoposide Approved 33419-42-0 36462
37
Prednisolone phosphate Approved, Vet_approved 302-25-0
38
Prednisolone acetate Approved, Vet_approved 52-21-1
39
Prednisolone Approved, Vet_approved 50-24-8 4894 5755
40
Prednisone Approved, Vet_approved 53-03-2 5865
41
Methylprednisolone hemisuccinate Approved 2921-57-5 1875
42
Levoleucovorin Approved, Experimental, Investigational 68538-85-2, 58-05-9, 73951-54-9 149436 6006
43
Methylprednisolone Approved, Vet_approved 83-43-2 4159 6741
44
Methotrexate Approved 1959-05-2, 59-05-2 4112 126941
45
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
46
Clotrimazole Approved, Vet_approved 23593-75-1 2812
47
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
48
Prednisolone hemisuccinate Experimental 2920-86-7 4897
49 Nitrogen Mustard Compounds
50
Triamcinolone hexacetonide

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Phase II Multi-Dose Study of SGN-30 (Anti-CD30 mAb) in Patients With Primary Cutaneous Anaplastic Large Cell Lymphoma, Large Cell Transformation of Mycosis Fungoides, and Lymphomatoid Papulosis Completed NCT00099255 Phase 2 SGN-30
2 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
3 Optimizing Dosing of Brentuximab Vedotin for Mycosis Fungoides, Sezary Syndrome, and Lymphomatoid Papulosis Recruiting NCT03587844 Phase 2 brentuximab vedotin
4 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
5 Phase II Trial of Brentuximab Vedotin (SGN-35) at Dose of 1.8 mg/kg IV Every 3 Weeks in Patients With CD30-positive Lymphoproliferative Disorders (Cutaneous Anaplastic Large T-cell Lymphoma (ALCL), Mycosis Fungoides, and Extensive Lymphomatoid Papulosis (LyP) Active, not recruiting NCT01352520 Phase 2 SGN-35
6 A Phase II Study of Brentuximab Vedotin and Lenalidomide in Relapsed and Refractory T-Cell Lymphomas Active, not recruiting NCT03409432 Phase 2 Brentuximab Vedotin;Lenalidomide
7 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
8 Protocol for Related Donor Hematopoietic Stem Cell Transplantation (HSCT) for Treatment of Symptomatic Genetic Lymphohematological Diseases Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
9 Phase I Study of the Administration of T Lymphocytes Co-Expressing the CD30 Chimeric Antigen Receptor (CAR) and CCR4 for Relapsed/Refractory CD30+ Hodgkin Lymphoma and Cutaneous T-Cell Lymphoma Recruiting NCT03602157 Phase 1 Bendamustine;Fludarabine
10 Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
11 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
12 Genetic Studies of the X-Linked Lymphoproliferative Disease Completed NCT00359411
13 Randomized Controlled Trial Comparing the Utility of an Ultrasonic Coagulating Device (UCSD) With Electrothermal Bipolar Vessel Sealer (EBVS) in Thyroid Surgery. Completed NCT01765686
14 A Tissue Repository for the Collection of Samples From Patients With Cutaneous T Cell Lymphoma and Healthy Volunteers Recruiting NCT02840747
15 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Fludarabine phosphate 30 mg;MESNA
16 Triamcinolone Acetonide Injections in Primary Cutaneous Lymphoma Plaques With a Novel Needle-free Drug-delivery System. Not yet recruiting NCT05106192 Triamcinolone Acetonide;Bexarotene 1% Top Gel;Nitrogen Mustard
17 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 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 X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency 28 SH2D1A XIAP
2 X-Linked Lymphoproliferative Syndrome 28

Anatomical Context for Lymphoproliferative Syndrome, X-Linked, 1

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

MalaCards : Skin, T Cells, Bone Marrow, B Cells, Spleen, Bone, Liver
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

Publications for Lymphoproliferative Syndrome, X-Linked, 1

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

(show top 50) (show all 1946)
# Title Authors PMID Year
1
Regulation of NKT cell development by SAP, the protein defective in XLP. 62 57 5
15711562 2005
2
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). 62 57 5
10556288 1999
3
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. 62 57 5
9771704 1998
4
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 62 24 5
21119115 2011
5
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. 62 24 57
20926771 2011
6
Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. 62 24 57
19759517 2009
7
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. 62 24 57
17080092 2006
8
Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature. 62 24 5
15908972 2005
9
Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein. 62 24 5
14583885 2003
10
Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. 62 24 5
11477068 2001
11
SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. 62 24 5
11493483 2001
12
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. 62 24 5
11159547 2001
13
Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. 62 24 5
11049992 2000
14
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. 53 62 5
11414741 2001
15
Preimplantation Genetic Testing for a Chinese Family With X-Linked Lymphoproliferative Syndrome Type 1. 62 5
33329693 2020
16
A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease. 62 5
31415280 2019
17
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis. 62 5
28816794 2017
18
[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia]. 62 5
28482391 2017
19
Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. 62 5
24985396 2014
20
Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients with SH2D1A and XIAP/BIRC4 Mutations. 62 5
26305518 2014
21
Allogeneic stem cell transplantation as immunotherapy for X-linked lymphoproliferative disease-associated cerebral T-cell lymphoma. 62 5
23829589 2013
22
Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives. 62 5
23143765 2012
23
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. 62 5
22433061 2012
24
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. 62 5
22493517 2012
25
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. 62 5
22970278 2012
26
Limbic encephalitis as presentation of a SAP deficiency. 62 57
17620557 2007
27
Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease. 62 57
16424938 2006
28
Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells. 62 57
15761493 2005
29
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. 62 5
15661030 2005
30
Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases. 62 5
15359110 2004
31
Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection. 62 5
12356686 2002
32
Lymphocytic vasculitis in X-linked lymphoproliferative disease. 62 57
11133747 2001
33
Defective NK cell activation in X-linked lymphoproliferative disease. 62 5
11034354 2000
34
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. 62 5
10934222 2000
35
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 62 5
10694488 2000
36
Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. 62 5
10691868 2000
37
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. 62 5
10598819 1999
38
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. 62 5
9811875 1998
39
X linked lymphoproliferative disease in a United Kingdom family. 62 57
9771253 1998
40
X-linked lymphoproliferative disease: twenty-five years after the discovery. 62 57
8559596 1995
41
Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. 62 57
8232431 1993
42
Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP). 62 57
8256804 1993
43
Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. 62 57
8387453 1993
44
First prenatal diagnosis of X-linked lymphoproliferative disease. 62 57
1355632 1992
45
X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male. 62 57
1358486 1992
46
Methods of detection of new families with X-linked lymphoproliferative disease. 62 57
1847089 1991
47
Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP) 62 57
1972651 1990
48
Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome. 62 57
2574086 1989
49
Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. 62 57
2567695 1989
50
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. 62 57
2567696 1989

Variations for Lymphoproliferative Syndrome, X-Linked, 1

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

5 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SH2D1A NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter) SNV Pathogenic
10899 rs111033628 GRCh37: X:123499645-123499645
GRCh38: X:124365795-124365795
2 SH2D1A NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr) SNV Pathogenic
10901 rs111033624 GRCh37: X:123480587-123480587
GRCh38: X:124346737-124346737
3 SH2D1A NM_002351.5(SH2D1A):c.138-1G>T SNV Pathogenic
10902 rs1603238847 GRCh37: X:123499610-123499610
GRCh38: X:124365760-124365760
4 SH2D1A NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg) SNV Pathogenic
10903 rs111033625 GRCh37: X:123505239-123505239
GRCh38: X:124371389-124371389
5 SH2D1A NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu) SNV Pathogenic
10904 rs111033626 GRCh37: X:123504126-123504126
GRCh38: X:124370276-124370276
6 SH2D1A NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) SNV Pathogenic
10905 rs111033627 GRCh37: X:123504027-123504027
GRCh38: X:124370177-124370177
7 SH2D1A NM_002351.5(SH2D1A):c.-10C>T SNV Pathogenic
10906 rs1603236465 GRCh37: X:123480483-123480483
GRCh38: X:124346633-124346633
8 SH2D1A NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile) SNV Pathogenic
10908 rs111033629 GRCh37: X:123480495-123480495
GRCh38: X:124346645-124346645
9 SH2D1A NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu) SNV Pathogenic
10910 rs111033630 GRCh37: X:123499637-123499637
GRCh38: X:124365787-124365787
10 SH2D1A NM_002351.5(SH2D1A):c.137+5G>C SNV Pathogenic
65388 rs587777612 GRCh37: X:123480634-123480634
GRCh38: X:124346784-124346784
11 SH2D1A NC_000023.11:g.(?_124346297)_(124371411_?)del DEL Pathogenic
583520 GRCh37: X:123480147-123505261
GRCh38: X:124346297-124371411
12 SH2D1A NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys) SNV Pathogenic
633415 rs1569527111 GRCh37: X:123480512-123480512
GRCh38: X:124346662-124346662
13 SH2D1A NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter) SNV Pathogenic
547772 rs1556620706 GRCh37: X:123499665-123499665
GRCh38: X:124365815-124365815
14 SH2D1A NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) SNV Pathogenic
1458979 GRCh37: X:123499664-123499664
GRCh38: X:124365814-124365814
15 SH2D1A NC_000023.10:g.(?_123480493)_(123505241_?)del DEL Pathogenic
1459977 GRCh37: X:123480493-123505241
GRCh38:
16 SH2D1A NC_000023.10:g.(?_123480147)_(123480649_?)del DEL Pathogenic
1076142 GRCh37: X:123480147-123480649
GRCh38:
17 SH2D1A NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) SNV Pathogenic
1686182 GRCh37: X:123499633-123499633
GRCh38: X:124365783-124365783
18 SH2D1A NM_002351.5(SH2D1A):c.202-1G>C SNV Pathogenic
1686183 GRCh37: X:123504025-123504025
GRCh38: X:124370175-124370175
19 SH2D1A NC_000023.11:g.(?_124365741)_(124371411_?)del DEL Pathogenic
584122 GRCh37: X:123499591-123505261
GRCh38: X:124365741-124371411
20 SH2D1A NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) DUP Pathogenic
1459603 GRCh37: X:123504063-123504064
GRCh38: X:124370213-124370214
21 SH2D1A NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) SNV Pathogenic
1455661 GRCh37: X:123480494-123480494
GRCh38: X:124346644-124346644
22 SH2D1A NC_000023.11:g.(?_124346562)_(124346780_124365760)del DEL Pathogenic
10907 GRCh37:
GRCh38: X:124346562-124365760
23 SH2D1A NM_002351.5(SH2D1A):c.149_201+106del DEL Pathogenic
10900 GRCh37: X:123499618-123499776
GRCh38: X:124365768-124365926
24 SH2D1A NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) SNV Pathogenic
Pathogenic
10898 rs111033623 GRCh37: X:123499636-123499636
GRCh38: X:124365786-124365786
25 SH2D1A NM_002351.5(SH2D1A):c.201+2T>C SNV Likely Pathogenic
1518501 GRCh37: X:123499676-123499676
GRCh38: X:124365826-124365826
26 SH2D1A NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly) SNV Likely Pathogenic
547771 rs1556619319 GRCh37: X:123480497-123480497
GRCh38: X:124346647-124346647
27 SH2D1A NM_002351.5(SH2D1A):c.197_201+9del DEL Likely Pathogenic
970680 rs2060052777 GRCh37: X:123499668-123499681
GRCh38: X:124365818-124365831
28 SH2D1A NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg) SNV Likely Pathogenic
547773 rs111033625 GRCh37: X:123505239-123505239
GRCh38: X:124371389-124371389
29 SH2D1A NM_002351.5(SH2D1A):c.138-3C>G SNV Likely Pathogenic
548931 rs1556620697 GRCh37: X:123499608-123499608
GRCh38: X:124365758-124365758
30 SH2D1A NC_000023.10:g.(?_123497345)_123505232del DEL Likely Pathogenic
1066967 GRCh37:
GRCh38:
31 SH2D1A NC_000023.10:g.(?_123499639)_123506985del DEL Likely Pathogenic
1066968 GRCh37:
GRCh38:
32 SH2D1A NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del] COMPLEX Likely Pathogenic
1210283 GRCh37:
GRCh38:
33 SH2D1A NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val) SNV Uncertain Significance
1410736 GRCh37: X:123499619-123499619
GRCh38: X:124365769-124365769
34 SH2D1A NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu) SNV Uncertain Significance
1397679 GRCh37: X:123504097-123504097
GRCh38: X:124370247-124370247
35 SH2D1A NM_002351.5(SH2D1A):c.201+4T>G SNV Uncertain Significance
1424854 GRCh37: X:123499678-123499678
GRCh38: X:124365828-124365828
36 SH2D1A NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val) SNV Uncertain Significance
1425284 GRCh37: X:123504162-123504162
GRCh38: X:124370312-124370312
37 SH2D1A NM_002351.5(SH2D1A):c.102C>T (p.Ser34=) SNV Uncertain Significance
1481815 GRCh37: X:123480594-123480594
GRCh38: X:124346744-124346744
38 SH2D1A NM_002351.5(SH2D1A):c.*26A>T SNV Uncertain Significance
913202 rs1240769541 GRCh37: X:123505267-123505267
GRCh38: X:124371417-124371417
39 SH2D1A NM_002351.5(SH2D1A):c.*110T>C SNV Uncertain Significance
913203 rs746586521 GRCh37: X:123505351-123505351
GRCh38: X:124371501-124371501
40 SH2D1A NM_002351.5(SH2D1A):c.*511A>G SNV Uncertain Significance
913204 rs921205093 GRCh37: X:123505752-123505752
GRCh38: X:124371902-124371902
41 SH2D1A NM_002351.5(SH2D1A):c.*1077G>A SNV Uncertain Significance
914332 rs778956197 GRCh37: X:123506318-123506318
GRCh38: X:124372468-124372468
42 SH2D1A NM_002351.5(SH2D1A):c.*1192A>G SNV Uncertain Significance
914333 rs1355524556 GRCh37: X:123506433-123506433
GRCh38: X:124372583-124372583
43 SH2D1A NM_002351.5(SH2D1A):c.*1601T>C SNV Uncertain Significance
914829 rs369322350 GRCh37: X:123506842-123506842
GRCh38: X:124372992-124372992
44 SH2D1A NM_002351.5(SH2D1A):c.*1753A>G SNV Uncertain Significance
914830 rs867794698 GRCh37: X:123506994-123506994
GRCh38: X:124373144-124373144
45 SH2D1A NM_002351.5(SH2D1A):c.*860T>C SNV Uncertain Significance
367880 rs1057515764 GRCh37: X:123506101-123506101
GRCh38: X:124372251-124372251
46 SH2D1A NM_002351.5(SH2D1A):c.*647G>A SNV Uncertain Significance
367878 rs770056649 GRCh37: X:123505888-123505888
GRCh38: X:124372038-124372038
47 SH2D1A NM_002351.5(SH2D1A):c.*862T>A SNV Uncertain Significance
367881 rs774701387 GRCh37: X:123506103-123506103
GRCh38: X:124372253-124372253
48 SH2D1A NM_002351.5(SH2D1A):c.*1755G>A SNV Uncertain Significance
367887 rs1049817964 GRCh37: X:123506996-123506996
GRCh38: X:124373146-124373146
49 SH2D1A NM_002351.5(SH2D1A):c.*759G>C SNV Uncertain Significance
367879 rs1057515763 GRCh37: X:123506000-123506000
GRCh38: X:124372150-124372150
50 SH2D1A NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val) SNV Uncertain Significance
536456 rs1556619338 GRCh37: X:123480608-123480608
GRCh38: X:124346758-124346758

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

73 (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 rs1569527111
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

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 GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1 13.37 XIAP TYK2 TIA1 PTPN11 GZMB FASLG
2
Show member pathways
13.15 XIAP TNFRSF8 FASLG FAS CCR4 ALK
3
Show member pathways
13.07 TNFRSF8 PTPN11 FASLG FAS CCR4 ACVRL1
4
Show member pathways
12.21 XIAP PTPN11 NPM1 FAS
5
Show member pathways
12.09 XIAP GZMB FASLG FAS
6 11.95 TYK2 TNFRSF8 SH2D1A GZMB FASLG FAS
7
Show member pathways
11.92 XIAP GZMB FASLG FAS
8 11.84 ALK NPM1 SH2D1A TYK2
9
Show member pathways
11.73 TYK2 GZMB FASLG
10 11.64 GZMB FASLG FAS
11
Show member pathways
11.45 XIAP TIA1 PTPN11 GZMB FASLG FAS
12 11.08 GZMB FASLG FAS
13
Show member pathways
10.89 GZMB FASLG FAS

GO Terms for Lymphoproliferative Syndrome, X-Linked, 1

Cellular components related to Lymphoproliferative Syndrome, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.4 SLAMF6 SLAMF1 FASLG FAS CD244 CCR4
2 cytolytic granule GO:0044194 9.26 STXBP2 GZMB

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

# Name GO ID Score Top Affiliating Genes
1 regulation of mast cell degranulation GO:0043304 9.56 UNC13D STXBP2
2 necroptotic signaling pathway GO:0097527 9.46 FASLG FAS
3 positive regulation of type II interferon production GO:0032729 9.23 TYK2 SLAMF6 SLAMF1 CD244
4 regulation of multicellular organismal process GO:0051239 8.96 TYK2 ACVRL1

Sources for Lymphoproliferative Syndrome, X-Linked, 1

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6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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34 ICD9CM
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43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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