LPFS1
MCID: LYM106
MIFTS: 45

Lymphoproliferative Syndrome 1 (LPFS1)

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

Aliases & Classifications for Lymphoproliferative Syndrome 1

MalaCards integrated aliases for Lymphoproliferative Syndrome 1:

Name: Lymphoproliferative Syndrome 1 57 12 72 36 29 13 6 15 70
Lpfs1 57 12 72
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 72 39
Autosomal Recessive Lymphoproliferative Disease Due to Itk Deficiency 58
Combined Immunodeficiency Due to Itk Deficiency 58
Itk Deficiency 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
fatal without bone marrow transplantation


HPO:

31
lymphoproliferative syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Lymphoproliferative Syndrome 1

OMIM® : 57 Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (613011) (Updated 05-Apr-2021)

MalaCards based summary : Lymphoproliferative Syndrome 1, also known as lpfs1, is related to lymphoproliferative syndrome, x-linked, 1 and dysgammaglobulinemia. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are T cell receptor signaling pathway and Innate Immune System. Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has material basis in homozygous mutation in the ITK gene on chromosome 5q32.

KEGG : 36 Lymphoproliferative syndrome 1 is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common immunological features are a progressive hypogammaglobulinemia and a progressive loss of CD4+ T cells with a declining proportion of naive T cells.

UniProtKB/Swiss-Prot : 72 Lymphoproliferative syndrome 1: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma.

Related Diseases for Lymphoproliferative Syndrome 1

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 31.5 XIAP UNC13D STXBP2 STX11 SH2D1A PRF1
2 dysgammaglobulinemia 30.4 XIAP STXBP2 SH2D1A
3 autoimmune lymphoproliferative syndrome 29.6 UNC13D SH2D1A PRF1 IL2RA
4 hemophagocytic lymphohistiocytosis 29.1 XIAP UNC13D STXBP2 STX11 SH2D1A PRF1
5 lymphoproliferative syndrome 29.0 XIAP UNC13D SH2D1A PRF1 ITK IL2RA
6 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.2 SH2D1A ITK
7 disseminated eosinophilic collagen disease 10.2 IL2RA CD52
8 hemophagocytic lymphohistiocytosis, familial, 5 10.2 UNC13D STXBP2 STX11
9 piebald trait 10.2 UNC13D STXBP2 STX11
10 whipple disease 10.1 IL16 CD68
11 histiocytic sarcoma 10.1 CD68 CD163
12 reticulohistiocytic granuloma 10.1 CD68 CD163
13 balloon cell malignant melanoma 10.1 CD68 CD163
14 phenytoin allergy 10.1 PRF1 IL16
15 langerhans cell sarcoma 10.1 CD68 CD163
16 necrobiosis lipoidica 10.1 CD68 CD163
17 selective immunoglobulin deficiency disease 10.1 XIAP UNC13D STXBP2 SH2D1A
18 histiocytic and dendritic cell cancer 10.1 CD68 CD163
19 granulomatous dermatitis 10.1 CD68 CD163
20 nodular tenosynovitis 10.0 CD68 CD163
21 non-langerhans-cell histiocytosis 10.0 CD68 CD163
22 t-cell adult acute lymphocytic leukemia 10.0 IL2RA CD52
23 hemophagocytic lymphohistiocytosis, familial, 2 10.0 STXBP2 STX11 PRF1
24 primary hemophagocytic lymphohistiocytosis 10.0 UNC13D STX11 PRF1
25 ischemic fasciitis 10.0 CD68 CD163
26 tenosynovial giant cell tumor 10.0 CD68 CD163
27 systemic epstein-barr virus-positive t-cell lymphoma of childhood 10.0 SH2D1A NCAM1
28 perforated corneal ulcer 10.0 PRF1 CD68
29 adult xanthogranuloma 10.0 CD68 CD163
30 lymphoma, hodgkin, classic 10.0 SH2D1A IL2RA CD68
31 lymphoproliferative syndrome 2 10.0 XIAP STXBP2 STX11 SH2D1A ITK
32 primary thrombocytopenia 9.9 HP CD52
33 macrophage activation syndrome 9.9 UNC13D PRF1 CD163
34 acute hemorrhagic encephalitis 9.9 XIAP UNC13D STXBP2 STX11 SH2D1A
35 lymphopenia 9.9
36 lymphomatoid granulomatosis 9.9
37 esophageal tuberculosis 9.9 IL2RA CD68 CD163
38 hemophagocytic lymphohistiocytosis, familial, 3 9.9 UNC13D STX11
39 hemophagocytic lymphohistiocytosis, familial, 4 9.9 UNC13D STXBP2 STX11 PRF1
40 chediak-higashi syndrome 9.9 UNC13D STXBP2 STX11 PRF1
41 lethal midline granuloma 9.8 PRF1 NCAM1
42 nasal cavity lymphoma 9.8 PRF1 NCAM1
43 immunodeficiency 54 9.8 PRF1 NCAM1
44 vulvar benign neoplasm 9.8 NCAM1 HP
45 bronchopneumonia 9.8 HP CD68
46 rhinosporidiosis 9.8 NCAM1 CD68
47 griscelli syndrome, type 2 9.8 UNC13D STXBP2 STX11 SH2D1A PRF1
48 griscelli syndrome 9.8 UNC13D STXBP2 STX11 SH2D1A PRF1
49 hemophagocytic lymphohistiocytosis, familial, 1 9.8 UNC13D STXBP2 STX11 SH2D1A PRF1
50 sezary's disease 9.8 NCAM1 IL2RA CD52

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 1:



Diseases related to Lymphoproliferative Syndrome 1

Symptoms & Phenotypes for Lymphoproliferative Syndrome 1

Human phenotypes related to Lymphoproliferative Syndrome 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 hepatomegaly 31 very rare (1%) HP:0002240
3 recurrent infections 31 very rare (1%) HP:0002719
4 pleural effusion 31 very rare (1%) HP:0002202
5 lymphadenopathy 31 very rare (1%) HP:0002716
6 pancytopenia 31 very rare (1%) HP:0001876
7 elevated c-reactive protein level 31 very rare (1%) HP:0011227
8 pericardial effusion 31 very rare (1%) HP:0001698
9 recurrent fever 31 very rare (1%) HP:0001954
10 decreased circulating igg level 31 very rare (1%) HP:0004315
11 autoimmune hemolytic anemia 31 very rare (1%) HP:0001890
12 b-cell lymphoma 31 very rare (1%) HP:0012191
13 autoimmune thrombocytopenia 31 very rare (1%) HP:0001973
14 hodgkin lymphoma 31 very rare (1%) HP:0012189
15 lymphoproliferative disorder 31 very rare (1%) HP:0005523
16 stomatitis 31 very rare (1%) HP:0010280
17 increased circulating ferritin concentration 31 very rare (1%) HP:0003281
18 decreased proportion of cd4-positive helper t cells 31 very rare (1%) HP:0005407
19 persistent ebv viremia 31 very rare (1%) HP:0020072
20 elevated erythrocyte sedimentation rate 31 HP:0003565

Symptoms via clinical synopsis from OMIM®:

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

Hematology:
anemia
thrombocytopenia
pancytopenia

Laboratory Abnormalities:
elevated erythrocyte sedimentation rate (esr)
increased c-reactive protein
high ebv viral load

Abdomen Liver:
hepatomegaly
impaired liver function

Immunology:
recurrent infections
lymphadenopathy
autoimmune disorders
hypogammaglobulinemia
mononucleosis
more
Neoplasia:
increased risk for lymphoma hodgkin disease

Clinical features from OMIM®:

613011 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 CASP9 CD163 HP ITK LPL NCAM1
2 hematopoietic system MP:0005397 9.77 CASP9 CD163 CD68 HP IL16 IL2RA
3 immune system MP:0005387 9.44 CASP9 CD163 CD68 HP IL16 IL2RA

Drugs & Therapeutics for Lymphoproliferative Syndrome 1

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 1

Genetic Tests for Lymphoproliferative Syndrome 1

Genetic tests related to Lymphoproliferative Syndrome 1:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 1 29 ITK

Anatomical Context for Lymphoproliferative Syndrome 1

MalaCards organs/tissues related to Lymphoproliferative Syndrome 1:

40
T Cells, Bone Marrow, Bone, Liver

Publications for Lymphoproliferative Syndrome 1

Articles related to Lymphoproliferative Syndrome 1:

# Title Authors PMID Year
1
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. 57 6
22289921 2012
2
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 6 57
21109689 2011
3
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 57 6
19425169 2009
4
Increased infections associated with the use of OKT3 for treatment of steroid-resistant rejection in renal transplantation. 61
3276066 1988

Variations for Lymphoproliferative Syndrome 1

ClinVar genetic disease variations for Lymphoproliferative Syndrome 1:

6 (show top 50) (show all 170)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITK NM_005546.3(ITK):c.1003C>T (p.Arg335Trp) SNV Pathogenic 12741 rs121908191 GRCh37: 5:156668673-156668673
GRCh38: 5:157241663-157241663
2 ITK NM_005546.3(ITK):c.86G>A (p.Arg29His) SNV Pathogenic 64372 rs397514261 GRCh37: 5:156608074-156608074
GRCh38: 5:157181063-157181063
3 ITK NM_005546.3(ITK):c.1764C>G (p.Tyr588Ter) SNV Pathogenic 64371 rs397514260 GRCh37: 5:156675990-156675990
GRCh38: 5:157248980-157248980
4 ITK NM_005546.3(ITK):c.237G>A (p.Pro79=) SNV Conflicting interpretations of pathogenicity 352458 rs201403794 GRCh37: 5:156635998-156635998
GRCh38: 5:157208987-157208987
5 ITK NM_005546.3(ITK):c.1455C>T (p.Ala485=) SNV Conflicting interpretations of pathogenicity 352474 rs201568204 GRCh37: 5:156672741-156672741
GRCh38: 5:157245731-157245731
6 ITK NM_005546.3(ITK):c.150G>A (p.Thr50=) SNV Conflicting interpretations of pathogenicity 352457 rs61743239 GRCh37: 5:156635911-156635911
GRCh38: 5:157208900-157208900
7 ITK NM_005546.3(ITK):c.1276C>T (p.Leu426=) SNV Conflicting interpretations of pathogenicity 352473 rs145991142 GRCh37: 5:156671315-156671315
GRCh38: 5:157244305-157244305
8 ITK NM_005546.3(ITK):c.1658G>A (p.Ser553Asn) SNV Uncertain significance 576436 rs1561666191 GRCh37: 5:156675884-156675884
GRCh38: 5:157248874-157248874
9 ITK NM_005546.3(ITK):c.1685G>A (p.Arg562Gln) SNV Uncertain significance 578820 rs142618425 GRCh37: 5:156675911-156675911
GRCh38: 5:157248901-157248901
10 ITK NM_005546.3(ITK):c.1153A>G (p.Lys385Glu) SNV Uncertain significance 579298 rs767083015 GRCh37: 5:156670725-156670725
GRCh38: 5:157243715-157243715
11 ITK NM_005546.3(ITK):c.539A>G (p.Tyr180Cys) SNV Uncertain significance 579957 rs1561657402 GRCh37: 5:156649916-156649916
GRCh38: 5:157222906-157222906
12 ITK NM_005546.3(ITK):c.82G>T (p.Val28Phe) SNV Uncertain significance 638898 rs1580869283 GRCh37: 5:156608070-156608070
GRCh38: 5:157181059-157181059
13 ITK NM_005546.3(ITK):c.1282C>A (p.Gln428Lys) SNV Uncertain significance 641419 rs150270557 GRCh37: 5:156671321-156671321
GRCh38: 5:157244311-157244311
14 ITK NM_005546.3(ITK):c.674A>G (p.Tyr225Cys) SNV Uncertain significance 642717 rs201567966 GRCh37: 5:156655332-156655332
GRCh38: 5:157228322-157228322
15 ITK NM_005546.3(ITK):c.1791+5G>A SNV Uncertain significance 644968 rs1288043073 GRCh37: 5:156676022-156676022
GRCh38: 5:157249012-157249012
16 ITK NM_005546.3(ITK):c.571G>A (p.Ala191Thr) SNV Uncertain significance 352463 rs534229766 GRCh37: 5:156649948-156649948
GRCh38: 5:157222938-157222938
17 ITK NM_005546.3(ITK):c.1034C>T (p.Ala345Val) SNV Uncertain significance 647566 rs1421908099 GRCh37: 5:156668704-156668704
GRCh38: 5:157241694-157241694
18 ITK NM_005546.3(ITK):c.1601G>A (p.Arg534His) SNV Uncertain significance 649542 rs745561238 GRCh37: 5:156672977-156672977
GRCh38: 5:157245967-157245967
19 ITK NM_005546.3(ITK):c.495G>T (p.Arg165Ser) SNV Uncertain significance 654225 rs533252659 GRCh37: 5:156644917-156644917
GRCh38: 5:157217907-157217907
20 ITK NC_000005.9:g.(?_156607793)_(156650044_?)dup Duplication Uncertain significance 656285 GRCh37: 5:156607793-156650044
GRCh38:
21 ITK NM_005546.3(ITK):c.873G>T (p.Lys291Asn) SNV Uncertain significance 657763 rs1580905431 GRCh37: 5:156667093-156667093
GRCh38: 5:157240083-157240083
22 ITK NM_005546.3(ITK):c.526G>A (p.Val176Ile) SNV Uncertain significance 665307 rs1452423111 GRCh37: 5:156649903-156649903
GRCh38: 5:157222893-157222893
23 ITK NM_005546.4(ITK):c.407T>C (p.Leu136Pro) SNV Uncertain significance 940441 GRCh37: 5:156641283-156641283
GRCh38: 5:157214272-157214272
24 ITK NM_005546.4(ITK):c.1181G>A (p.Arg394Gln) SNV Uncertain significance 940469 GRCh37: 5:156670753-156670753
GRCh38: 5:157243743-157243743
25 ITK NM_005546.4(ITK):c.1235A>G (p.Lys412Arg) SNV Uncertain significance 944137 GRCh37: 5:156671274-156671274
GRCh38: 5:157244264-157244264
26 ITK NM_005546.4(ITK):c.1577C>A (p.Ser526Tyr) SNV Uncertain significance 950029 GRCh37: 5:156672953-156672953
GRCh38: 5:157245943-157245943
27 ITK NM_005546.4(ITK):c.164T>C (p.Ile55Thr) SNV Uncertain significance 950030 GRCh37: 5:156635925-156635925
GRCh38: 5:157208914-157208914
28 ITK NM_005546.4(ITK):c.719A>G (p.Tyr240Cys) SNV Uncertain significance 973643 GRCh37: 5:156659355-156659355
GRCh38: 5:157232345-157232345
29 ITK NM_005546.4(ITK):c.286C>T (p.Arg96Cys) SNV Uncertain significance 840048 GRCh37: 5:156638340-156638340
GRCh38: 5:157211329-157211329
30 ITK NM_005546.4(ITK):c.1074C>G (p.Ile358Met) SNV Uncertain significance 841026 GRCh37: 5:156670646-156670646
GRCh38: 5:157243636-157243636
31 ITK NM_005546.4(ITK):c.243+5G>A SNV Uncertain significance 861388 GRCh37: 5:156636009-156636009
GRCh38: 5:157208998-157208998
32 ITK NM_005546.4(ITK):c.1563G>A (p.Pro521=) SNV Uncertain significance 905681 GRCh37: 5:156672939-156672939
GRCh38: 5:157245929-157245929
33 ITK NM_005546.4(ITK):c.1762T>C (p.Tyr588His) SNV Uncertain significance 906196 GRCh37: 5:156675988-156675988
GRCh38: 5:157248978-157248978
34 ITK NM_005546.4(ITK):c.356A>G (p.Lys119Arg) SNV Uncertain significance 934760 GRCh37: 5:156641232-156641232
GRCh38: 5:157214221-157214221
35 ITK NM_005546.4(ITK):c.364C>A (p.Pro122Thr) SNV Uncertain significance 934848 GRCh37: 5:156641240-156641240
GRCh38: 5:157214229-157214229
36 ITK NM_005546.4(ITK):c.1861T>C (p.Ter621Gln) SNV Uncertain significance 939402 GRCh37: 5:156679686-156679686
GRCh38: 5:157252676-157252676
37 ITK NM_005546.4(ITK):c.212G>C (p.Ser71Thr) SNV Uncertain significance 942255 GRCh37: 5:156635973-156635973
GRCh38: 5:157208962-157208962
38 ITK NM_005546.3(ITK):c.1492G>T (p.Val498Leu) SNV Uncertain significance 473141 rs758820629 GRCh37: 5:156672778-156672778
GRCh38: 5:157245768-157245768
39 ITK NM_005546.3(ITK):c.1715G>A (p.Ser572Asn) SNV Uncertain significance 473142 rs140542010 GRCh37: 5:156675941-156675941
GRCh38: 5:157248931-157248931
40 ITK NM_005546.3(ITK):c.*706G>C SNV Uncertain significance 352484 rs886060329 GRCh37: 5:156680394-156680394
GRCh38: 5:157253384-157253384
41 ITK NM_005546.3(ITK):c.*1928G>A SNV Uncertain significance 352501 rs886060334 GRCh37: 5:156681616-156681616
GRCh38: 5:157254606-157254606
42 ITK NM_005546.3(ITK):c.*1171G>C SNV Uncertain significance 352490 rs886060331 GRCh37: 5:156680859-156680859
GRCh38: 5:157253849-157253849
43 ITK NM_005546.3(ITK):c.1711A>G (p.Ile571Val) SNV Uncertain significance 352475 rs144950783 GRCh37: 5:156675937-156675937
GRCh38: 5:157248927-157248927
44 ITK NM_005546.3(ITK):c.*85A>C SNV Uncertain significance 352478 rs143715615 GRCh37: 5:156679773-156679773
GRCh38: 5:157252763-157252763
45 ITK NM_005546.3(ITK):c.*1398G>A SNV Uncertain significance 352495 rs188565647 GRCh37: 5:156681086-156681086
GRCh38: 5:157254076-157254076
46 ITK NM_005546.3(ITK):c.*1761T>A SNV Uncertain significance 352498 rs886060333 GRCh37: 5:156681449-156681449
GRCh38: 5:157254439-157254439
47 ITK NM_005546.3(ITK):c.1039G>A (p.Val347Ile) SNV Uncertain significance 352469 rs886060326 GRCh37: 5:156668709-156668709
GRCh38: 5:157241699-157241699
48 ITK NM_005546.3(ITK):c.1119A>G (p.Gln373=) SNV Uncertain significance 352472 rs189091977 GRCh37: 5:156670691-156670691
GRCh38: 5:157243681-157243681
49 ITK NM_005546.3(ITK):c.*140C>T SNV Uncertain significance 352479 rs536343015 GRCh37: 5:156679828-156679828
GRCh38: 5:157252818-157252818
50 ITK NM_005546.3(ITK):c.*1767C>A SNV Uncertain significance 352499 rs184917807 GRCh37: 5:156681455-156681455
GRCh38: 5:157254445-157254445

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

72
# Symbol AA change Variation ID SNP ID
1 ITK p.Arg335Trp VAR_063424 rs121908191

Expression for Lymphoproliferative Syndrome 1

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 1.

Pathways for Lymphoproliferative Syndrome 1

Pathways related to Lymphoproliferative Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 T cell receptor signaling pathway hsa04660

Pathways related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 UNC13D SH2D1A NCAM1 ITK IL2RA IL16
2 11.97 SH2D1A NCAM1 ITK IL2RA
3
Show member pathways
11.69 XIAP PRF1 CASP9
4
Show member pathways
11.05 XIAP PRF1 CASP9
5 10.99 NCAM1 IL2RA CD68 CD163
6
Show member pathways
10.9 PRF1 IL2RA
7 10.82 PRF1 IL2RA
8
Show member pathways
10.77 XIAP CASP9

GO Terms for Lymphoproliferative Syndrome 1

Cellular components related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.9 STXBP2 STX11 PRF1 NCAM1 LPL ITK
2 extracellular region GO:0005576 9.28 UNC13D STXBP2 PRF1 NCAM1 LPL IL16
3 cytolytic granule GO:0044194 8.96 STXBP2 PRF1

Biological processes related to Lymphoproliferative Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exocytosis GO:0006887 9.33 UNC13D STXBP2 STX11
2 inflammatory response to antigenic stimulus GO:0002437 9.26 IL2RA CD68
3 regulation of mast cell degranulation GO:0043304 8.96 UNC13D STXBP2
4 cellular defense response GO:0006968 8.8 SH2D1A PRF1 ITK

Sources for Lymphoproliferative Syndrome 1

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