LPFS2
MCID: LYM107
MIFTS: 48

Lymphoproliferative Syndrome 2 (LPFS2)

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

Aliases & Classifications for Lymphoproliferative Syndrome 2

MalaCards integrated aliases for Lymphoproliferative Syndrome 2:

Name: Lymphoproliferative Syndrome 2 57 12 73 29 13 6 15 39 71
Cd27 Deficiency 57 12 58 73
Lpfs2 57 12 73
Autosomal Recessive Lymphoproliferative Disease Due to Cd27 Deficiency 58
Combined Immunodeficiency Due to Cd27 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to cd27 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

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


HPO:

31
lymphoproliferative syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Lymphoproliferative Syndrome 2

OMIM® : 57 Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (615122) (Updated 05-Mar-2021)

MalaCards based summary : Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to lymphoproliferative syndrome, x-linked, 2 and immunodysregulation, polyendocrinopathy, and enteropathy, x-linked, and has symptoms including fever An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Akt Signaling and NF-kappaB Signaling. Related phenotypes are ascites and splenomegaly

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

UniProtKB/Swiss-Prot : 73 Lymphoproliferative syndrome 2: An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation.

Related Diseases for Lymphoproliferative Syndrome 2

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome 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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 2 32.0 XIAP STXBP2 SLAMF1 SH2D1A LYST ITK
2 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.1 CD8A CD4 CD28
3 agammaglobulinemia 30.0 TNFRSF13B SH2D1A ITK CR2
4 lymphoproliferative syndrome 29.9 XIAP SLAMF1 SH2D1A ITK CD70 CD27
5 aplastic anemia 29.8 SH2D1A CD70 CD4 CD28 CD27
6 lymphoproliferative syndrome, x-linked, 1 29.4 XIAP STXBP2 SLAMF1 SH2D1A MAGT1 LYST
7 hemophagocytic lymphohistiocytosis 29.4 XIAP STXBP2 SH2D1A LYST ITK CR2
8 combined immunodeficiency 29.2 TNFRSF4 MAGT1 CORO1A CD8A CD70 CD4
9 immune deficiency disease 29.1 TNFRSF13B SLAMF1 SH2D1A CR2 CD8A CD4
10 transient hypogammaglobulinemia 10.4 TNFRSF13B CD27
11 systemic epstein-barr virus-positive t-cell lymphoma of childhood 10.4 SH2D1A CR2
12 cork-handlers' disease 10.4 CD8A CD4
13 necrotic uveal melanoma 10.4 CD8A CD4
14 early yaws 10.4 CD8A CD4
15 ventilation pneumonitis 10.4 CD8A CD4
16 diffuse infiltrative lymphocytosis syndrome 10.3 CD8A CD4
17 latent syphilis 10.3 CD8A CD4
18 type 1 diabetes mellitus 23 10.3 CD8A CD4
19 autoimmune lymphoproliferative syndrome, type iia 10.3 CD8A CD4
20 parapsoriasis 10.3 CD8A CD4
21 gastroduodenitis 10.3 CD8A CD4
22 primary syphilis 10.3 CD8A CD4
23 norwegian scabies 10.3 CD8A CD4
24 bird fancier's lung 10.3 CD8A CD4
25 skin sarcoidosis 10.3 CD8A CD4
26 metal allergy 10.3 CD8A CD4
27 variola major 10.3 CD8A CD4
28 follicular mucinosis 10.3 CD8A CD4
29 african histoplasmosis 10.3 CD4 AP3B1
30 tertiary syphilis 10.3 CD8A CD4
31 spongiotic dermatitis 10.3 CD8A CD4
32 acute retinal necrosis syndrome 10.3 CD8A CD4
33 cerebral lymphoma 10.3 CD8A CD4
34 oral tuberculosis 10.3 CD8A CD4
35 cerebritis 10.3 CD8A CD4
36 invasive malignant thymoma 10.3 CD8A CD4
37 west nile encephalitis 10.3 CD8A CD4
38 lobomycosis 10.3 CR2 CD4
39 exanthema subitum 10.3 CD8A CD4
40 immunodeficiency 36 10.3 CD8A CD4
41 viral exanthem 10.3 CD8A CD4
42 secondary syphilis 10.3 CD8A CD4
43 glanders 10.3 CD8A CD4
44 subacute lymphocytic thyroiditis 10.3 CR2 CD4
45 superficial basal cell carcinoma 10.3 CD8A CD4
46 esophageal candidiasis 10.3 CD8A CD4
47 macroglobulinemia 10.3 TNFRSF13B CD70 CD27
48 immunodeficiency 13 10.3 STK4 MAGT1 CD4
49 dermatomycosis 10.3 CR2 CD4
50 parotid disease 10.3 CD8A CD4

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



Diseases related to Lymphoproliferative Syndrome 2

Symptoms & Phenotypes for Lymphoproliferative Syndrome 2

Human phenotypes related to Lymphoproliferative Syndrome 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ascites 31 occasional (7.5%) HP:0001541
2 splenomegaly 31 very rare (1%) HP:0001744
3 hepatomegaly 31 very rare (1%) HP:0002240
4 fever 31 very rare (1%) HP:0001945
5 uveitis 31 very rare (1%) HP:0000554
6 recurrent pneumonia 31 very rare (1%) HP:0006532
7 sepsis 31 very rare (1%) HP:0100806
8 lymphadenopathy 31 very rare (1%) HP:0002716
9 hepatosplenomegaly 31 very rare (1%) HP:0001433
10 oral ulcer 31 very rare (1%) HP:0000155
11 lymphoproliferative disorder 31 very rare (1%) HP:0005523
12 hodgkin lymphoma 31 very rare (1%) HP:0012189
13 hemophagocytosis 31 very rare (1%) HP:0012156
14 aplastic anemia 31 very rare (1%) HP:0001915
15 severe varicella zoster infection 31 very rare (1%) HP:0032170
16 decreased circulating antibody level 31 very rare (1%) HP:0004313
17 persistent ebv viremia 31 very rare (1%) HP:0020072
18 decreased lymphocyte proliferation in response to mitogen 31 HP:0031381

Symptoms via clinical synopsis from OMIM®:

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

Metabolic Features:
fever

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

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

Abdomen Liver:
hepatomegaly

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

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

Clinical features from OMIM®:

615122 (Updated 05-Mar-2021)

UMLS symptoms related to Lymphoproliferative Syndrome 2:


fever

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 AP3B1 CD27 CD28 CTPS1 ITK TNFRSF13B

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 AP3B1 CD27 CD28 CD4 CD8A CORO1A
2 hematopoietic system MP:0005397 9.91 AP3B1 CD27 CD28 CD4 CD70 CD8A
3 immune system MP:0005387 9.58 AP3B1 CD27 CD28 CD4 CD70 CD8A

Drugs & Therapeutics for Lymphoproliferative Syndrome 2

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 2

Genetic Tests for Lymphoproliferative Syndrome 2

Genetic tests related to Lymphoproliferative Syndrome 2:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 2 29 CD27

Anatomical Context for Lymphoproliferative Syndrome 2

Publications for Lymphoproliferative Syndrome 2

Articles related to Lymphoproliferative Syndrome 2:

(show all 11)
# Title Authors PMID Year
1
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. 57 6
22801960 2013
2
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. 57 6
22197273 2012
3
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. 6
22289921 2012
4
CD27: a new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder? 57
22365582 2012
5
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 6
21109689 2011
6
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 6
19425169 2009
7
Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2. 61
32686289 2021
8
Unique BIR domain sets determine inhibitor of apoptosis protein-driven cell death and NOD2 complex signal specificity. 61
30018081 2018
9
Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease. 61
28404814 2017
10
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. 61
21543760 2011
11
Unrelated cord blood transplantation for severe combined immunodeficiency and other primary immunodeficiencies. 61
18084339 2008

Variations for Lymphoproliferative Syndrome 2

ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:

6 (show top 50) (show all 197)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITK NM_005546.3(ITK):c.1003C>T (p.Arg335Trp) SNV Pathogenic 12741 rs121908191 5:156668673-156668673 5:157241663-157241663
2 CD27-AS1 NM_001242.4(CD27):c.24G>A (p.Trp8Ter) SNV Pathogenic 40889 rs398122933 12:6554285-6554285 12:6445119-6445119
3 CD27-AS1 NM_001242.4(CD27):c.158G>A (p.Cys53Tyr) SNV Pathogenic 40890 rs397514667 12:6554611-6554611 12:6445445-6445445
4 ITK NM_005546.3(ITK):c.1764C>G (p.Tyr588Ter) SNV Pathogenic 64371 rs397514260 5:156675990-156675990 5:157248980-157248980
5 ITK NM_005546.3(ITK):c.86G>A (p.Arg29His) SNV Pathogenic 64372 rs397514261 5:156608074-156608074 5:157181063-157181063
6 CD27-AS1 NM_001242.4(CD27):c.239dup (p.His80fs) Duplication Pathogenic 578414 rs748418658 12:6554691-6554692 12:6445525-6445526
7 CD27-AS1 NM_001242.4(CD27):c.541C>T (p.Gln181Ter) SNV Pathogenic 540910 rs779092602 12:6560063-6560063 12:6450897-6450897
8 XIAP NM_001167.4(XIAP):c.-10_977+11del Deletion Pathogenic 973578 X:123019498-123022574 X:123885648-123888724
9 ITK NM_005546.3(ITK):c.150G>A (p.Thr50=) SNV Conflicting interpretations of pathogenicity 352457 rs61743239 5:156635911-156635911 5:157208900-157208900
10 ITK NM_005546.3(ITK):c.237G>A (p.Pro79=) SNV Conflicting interpretations of pathogenicity 352458 rs201403794 5:156635998-156635998 5:157208987-157208987
11 ITK NM_005546.3(ITK):c.1276C>T (p.Leu426=) SNV Conflicting interpretations of pathogenicity 352473 rs145991142 5:156671315-156671315 5:157244305-157244305
12 ITK NM_005546.3(ITK):c.1455C>T (p.Ala485=) SNV Conflicting interpretations of pathogenicity 352474 rs201568204 5:156672741-156672741 5:157245731-157245731
13 ITK NM_005546.3(ITK):c.1510A>T (p.Thr504Ser) SNV Uncertain significance 540355 rs151046132 5:156672796-156672796 5:157245786-157245786
14 ITK NM_005546.3(ITK):c.725A>G (p.Lys242Arg) SNV Uncertain significance 540356 rs761513530 5:156659361-156659361 5:157232351-157232351
15 ITK NM_005546.3(ITK):c.767C>T (p.Thr256Ile) SNV Uncertain significance 540357 rs115751349 5:156659403-156659403 5:157232393-157232393
16 ITK NM_005546.3(ITK):c.631G>C (p.Val211Leu) SNV Uncertain significance 540358 rs142038079 5:156650008-156650008 5:157222998-157222998
17 ITK NM_005546.3(ITK):c.1829G>A (p.Arg610His) SNV Uncertain significance 540359 rs138438785 5:156679654-156679654 5:157252644-157252644
18 ITK NM_005546.3(ITK):c.*706G>C SNV Uncertain significance 352484 rs886060329 5:156680394-156680394 5:157253384-157253384
19 ITK NM_005546.3(ITK):c.*1928G>A SNV Uncertain significance 352501 rs886060334 5:156681616-156681616 5:157254606-157254606
20 ITK NM_005546.3(ITK):c.1492G>T (p.Val498Leu) SNV Uncertain significance 473141 rs758820629 5:156672778-156672778 5:157245768-157245768
21 ITK NM_005546.3(ITK):c.1715G>A (p.Ser572Asn) SNV Uncertain significance 473142 rs140542010 5:156675941-156675941 5:157248931-157248931
22 ITK NM_005546.3(ITK):c.1685G>A (p.Arg562Gln) SNV Uncertain significance 578820 rs142618425 5:156675911-156675911 5:157248901-157248901
23 ITK NM_005546.3(ITK):c.1153A>G (p.Lys385Glu) SNV Uncertain significance 579298 rs767083015 5:156670725-156670725 5:157243715-157243715
24 ITK NM_005546.3(ITK):c.539A>G (p.Tyr180Cys) SNV Uncertain significance 579957 rs1561657402 5:156649916-156649916 5:157222906-157222906
25 CD27-AS1 NM_001242.4(CD27):c.122A>G (p.Gln41Arg) SNV Uncertain significance 581569 rs752259578 12:6554383-6554383 12:6445217-6445217
26 ITK NM_005546.3(ITK):c.82G>T (p.Val28Phe) SNV Uncertain significance 638898 rs1580869283 5:156608070-156608070 5:157181059-157181059
27 ITK NM_005546.3(ITK):c.1282C>A (p.Gln428Lys) SNV Uncertain significance 641419 rs150270557 5:156671321-156671321 5:157244311-157244311
28 ITK NM_005546.3(ITK):c.674A>G (p.Tyr225Cys) SNV Uncertain significance 642717 rs201567966 5:156655332-156655332 5:157228322-157228322
29 CD27-AS1 NM_001242.4(CD27):c.353C>A (p.Thr118Asn) SNV Uncertain significance 644090 rs373598636 12:6559423-6559423 12:6450257-6450257
30 ITK NM_005546.3(ITK):c.1791+5G>A SNV Uncertain significance 644968 rs1288043073 5:156676022-156676022 5:157249012-157249012
31 ITK NM_005546.3(ITK):c.1411G>A (p.Ala471Thr) SNV Uncertain significance 646233 rs368438364 5:156671450-156671450 5:157244440-157244440
32 ITK NM_005546.3(ITK):c.571G>A (p.Ala191Thr) SNV Uncertain significance 352463 rs534229766 5:156649948-156649948 5:157222938-157222938
33 ITK NM_005546.3(ITK):c.1034C>T (p.Ala345Val) SNV Uncertain significance 647566 rs1421908099 5:156668704-156668704 5:157241694-157241694
34 ITK NM_005546.3(ITK):c.1601G>A (p.Arg534His) SNV Uncertain significance 649542 rs745561238 5:156672977-156672977 5:157245967-157245967
35 CD27-AS1 NM_001242.4(CD27):c.233G>A (p.Arg78Gln) SNV Uncertain significance 649825 rs145433356 12:6554686-6554686 12:6445520-6445520
36 ITK NM_005546.3(ITK):c.495G>T (p.Arg165Ser) SNV Uncertain significance 654225 rs533252659 5:156644917-156644917 5:157217907-157217907
37 CD27-AS1 NM_001242.4(CD27):c.206T>C (p.Val69Ala) SNV Uncertain significance 655342 rs749266346 12:6554659-6554659 12:6445493-6445493
38 CD27-AS1 NM_001242.4(CD27):c.721G>A (p.Glu241Lys) SNV Uncertain significance 656240 rs759504816 12:6560496-6560496 12:6451330-6451330
39 ITK NC_000005.9:g.(?_156607793)_(156650044_?)dup Duplication Uncertain significance 656285 5:156607793-156650044
40 CD27-AS1 NM_001242.4(CD27):c.488T>C (p.Leu163Pro) SNV Uncertain significance 656369 rs958102669 12:6559746-6559746 12:6450580-6450580
41 ITK NM_005546.3(ITK):c.873G>T (p.Lys291Asn) SNV Uncertain significance 657763 rs1580905431 5:156667093-156667093 5:157240083-157240083
42 ITK NM_005546.3(ITK):c.667A>G (p.Ser223Gly) SNV Uncertain significance 658392 rs200825710 5:156655325-156655325 5:157228315-157228315
43 CD27-AS1 NM_001242.4(CD27):c.712A>G (p.Arg238Gly) SNV Uncertain significance 662511 rs376329676 12:6560487-6560487 12:6451321-6451321
44 CD27-AS1 NM_001242.4(CD27):c.7C>T (p.Arg3Trp) SNV Uncertain significance 663095 rs755775043 12:6554268-6554268 12:6445102-6445102
45 CD27-AS1 NM_001242.4(CD27):c.546A>T (p.Arg182Ser) SNV Uncertain significance 663562 rs746393687 12:6560068-6560068 12:6450902-6450902
46 ITK NM_005546.3(ITK):c.526G>A (p.Val176Ile) SNV Uncertain significance 665307 rs1452423111 5:156649903-156649903 5:157222893-157222893
47 ITK NM_005546.3(ITK):c.1828C>T (p.Arg610Cys) SNV Uncertain significance 665754 rs763559802 5:156679653-156679653 5:157252643-157252643
48 CD27-AS1 NM_001242.4(CD27):c.254G>A (p.Arg85Gln) SNV Uncertain significance 666185 rs1404955716 12:6554707-6554707 12:6445541-6445541
49 ITK NM_005546.3(ITK):c.*140C>T SNV Uncertain significance 352479 rs536343015 5:156679828-156679828 5:157252818-157252818
50 ITK NM_005546.3(ITK):c.*1767C>A SNV Uncertain significance 352499 rs184917807 5:156681455-156681455 5:157254445-157254445

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

73
# Symbol AA change Variation ID SNP ID
1 CD27 p.Cys53Tyr VAR_069793 rs397514667

Expression for Lymphoproliferative Syndrome 2

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

Pathways for Lymphoproliferative Syndrome 2

GO Terms for Lymphoproliferative Syndrome 2

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 TNFRSF4 TNFRSF13B STXBP2 SLAMF1 MAGT1 ITK
2 cell surface GO:0009986 9.65 TNFRSF4 SLAMF1 CD4 CD28 CD27
3 external side of plasma membrane GO:0009897 9.35 TNFRSF4 CD8A CD4 CD28 CD27
4 integral component of plasma membrane GO:0005887 9.23 TNFRSF4 TNFRSF13B MAGT1 CD8A CD70 CD4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.83 TNFRSF13B CD8A CD4 CD28 CD27
2 immune response GO:0006955 9.8 TNFRSF4 CR2 CD8A CD70 CD4 CD28
3 adaptive immune response GO:0002250 9.73 TNFRSF13B SLAMF1 SH2D1A ITK CD8A CD4
4 viral entry into host cell GO:0046718 9.67 TNFRSF4 SLAMF1 CR2
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.67 TNFRSF4 TNFRSF13B CD70 CD27
6 phagocytosis GO:0006909 9.63 SLAMF1 LYST CORO1A
7 B cell proliferation GO:0042100 9.58 CTPS1 CR2 CD70
8 immune system process GO:0002376 9.56 TNFRSF13B SLAMF1 SH2D1A ITK CTPS1 CR2
9 leukocyte chemotaxis GO:0030595 9.51 LYST CORO1A
10 T cell mediated immunity GO:0002456 9.48 CD8A CD70
11 positive regulation of T cell proliferation GO:0042102 9.46 CORO1A CD70 CD4 CD28
12 T cell activation GO:0042110 8.92 ITK CD8A CD4 CD28

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.46 SLAMF1 CR2 CD4 CD27
2 coreceptor activity GO:0015026 9.13 CD8A CD4 CD28
3 virus receptor activity GO:0001618 8.92 TNFRSF4 SLAMF1 CR2 CD4

Sources for Lymphoproliferative Syndrome 2

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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