LPFS2
MCID: LYM107
MIFTS: 48

Lymphoproliferative Syndrome 2 (LPFS2)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Lymphoproliferative Syndrome 2

MalaCards integrated aliases for Lymphoproliferative Syndrome 2:

Name: Lymphoproliferative Syndrome 2 57 11 73 28 5 14 38 71
Cd27 Deficiency 57 11 58 73
Lpfs2 57 11 73
Autosomal Recessive Lymphoproliferative Disease Due to Cd27 Deficiency 58
Combined Immunodeficiency Due to Cd27 Deficiency 58

Characteristics:


Inheritance:

Lymphoproliferative Syndrome 2: Autosomal recessive 57
Combined Immunodeficiency Due to Cd27 Deficiency: Autosomal recessive 58

Prevelance:

Combined Immunodeficiency Due to Cd27 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Combined Immunodeficiency Due to Cd27 Deficiency: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
onset in first months or years of life
variable survival
recurrent acute episodes
favorable response to rituxan (in some patients)


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 08-Dec-2022)

MalaCards based summary: Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to lymphoproliferative syndrome, x-linked, 2 and agammaglobulinemia, and has symptoms including fever An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are ascites and fever

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.

Disease Ontology: 11 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.

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 Lymphoproliferative Syndrome 3

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

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 2 31.5 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
2 agammaglobulinemia 30.1 STX11 SH2D1A ITK
3 hemophagocytic lymphohistiocytosis, familial, 1 29.9 UNC13D STXBP2 STX11 SH2D1A
4 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.7 DOCK8 CD8A CD4
5 lymphoproliferative syndrome 29.5 XIAP UNC13D SLAMF1 SH2D1A ITK CD70
6 immune deficiency disease 29.2 TNFRSF13B SLAMF1 SH2D1A CD8A CD4 CD27-AS1
7 lymphoproliferative syndrome, x-linked, 1 29.0 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
8 hemophagocytic lymphohistiocytosis 28.1 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
9 combined immunodeficiency 27.7 UNC13D TNFRSF4 TNFRSF13B SH2D1A MAGT1 ITK
10 combined t and b cell immunodeficiency 10.4 CD27-AS1 CD27
11 systemic epstein-barr virus positive t-cell lymphoma of childhood 10.3 STXBP2 SH2D1A
12 immunodeficiency 7 10.3 SH2D1A CORO1A
13 transient hypogammaglobulinemia of infancy 10.3 TNFRSF13B CD27
14 psoriasis 15 10.3 UNC13D STXBP2
15 macroglobulinemia 10.2 TNFRSF13B CD70 CD27
16 mixed oligodendroglioma-astrocytoma 10.2 TNFRSF4 ITK
17 immunodeficiency 63 with lymphoproliferation and autoimmunity 10.2 STK4 DOCK8
18 autoinflammatory syndrome 10.2 UNC13D STXBP2 SH2D1A
19 hilar lung neoplasm 10.2 CD8A CD4
20 oral tuberculosis 10.2 CD8A CD4
21 early yaws 10.2 CD8A CD4
22 ventilation pneumonitis 10.2 CD8A CD4
23 diffuse infiltrative lymphocytosis syndrome 10.2 CD8A CD4
24 lymphopenia 10.2 MAGT1 ITK CORO1A
25 wissler-fanconi syndrome 10.2 CD8A CD4
26 autoimmune lymphoproliferative syndrome, type iia 10.2 CD8A CD4
27 encephalitozoonosis 10.2 CD8A CD4
28 type 1 diabetes mellitus 23 10.2 CD8A CD4
29 cork-handlers' disease 10.2 CD8A CD4
30 follicular mucinosis 10.2 CD8A CD4
31 bird fancier's lung 10.2 CD8A CD4
32 parapsoriasis 10.2 CD8A CD4
33 primary syphilis 10.2 CD8A CD4
34 granulomatous angiitis 10.2 CD8A CD4
35 primary cutaneous gamma-delta t-cell lymphoma 10.2 CD8A CD4
36 gastroduodenitis 10.2 CD8A CD4
37 thymic dysplasia 10.2 CD8A CD4
38 splenic abscess 10.2 CD8A CD4
39 mooren's ulcer 10.2 CD8A CD4
40 herpes simplex virus keratitis 10.2 CD8A CD4
41 hemophagocytic lymphohistiocytosis, familial, 4 10.2 UNC13D STXBP2 STX11
42 granulomatous dermatitis 10.2 CD8A CD4
43 acute retinal necrosis syndrome 10.2 CD8A CD4
44 granulomatous hepatitis 10.2 CD8A CD4
45 norwegian scabies 10.2 CD8A CD4
46 orbital cellulitis 10.2 CD8A CD4
47 acute orbital inflammation 10.2 CD8A CD4
48 viral exanthem 10.1 CD8A CD4
49 tertiary syphilis 10.1 CD8A CD4
50 spongiotic dermatitis 10.1 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:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ascites 30 Occasional (7.5%) HP:0001541
2 fever 30 Very rare (1%) HP:0001945
3 uveitis 30 Very rare (1%) HP:0000554
4 recurrent pneumonia 30 Very rare (1%) HP:0006532
5 sepsis 30 Very rare (1%) HP:0100806
6 lymphadenopathy 30 Very rare (1%) HP:0002716
7 hepatosplenomegaly 30 Very rare (1%) HP:0001433
8 oral ulcer 30 Very rare (1%) HP:0000155
9 hemophagocytosis 30 Very rare (1%) HP:0012156
10 lymphoproliferative disorder 30 Very rare (1%) HP:0005523
11 hodgkin lymphoma 30 Very rare (1%) HP:0012189
12 aplastic anemia 30 Very rare (1%) HP:0001915
13 severe varicella zoster infection 30 Very rare (1%) HP:0032170
14 persistent ebv viremia 30 Very rare (1%) HP:0020072
15 decreased circulating antibody level 30 Very rare (1%) HP:0004313
16 ebv meningitis 30 Very rare (1%) HP:0033508
17 ebv encephalitis 30 Very rare (1%) HP:0033509
18 decreased lymphocyte proliferation in response to mitogen 30 HP:0031381

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Lymphoproliferative Syndrome 2:


fever

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.93 CD27 CD4 CD70 CD8A CORO1A CTPS1
2 hematopoietic system MP:0005397 9.58 CD27 CD4 CD70 CD8A CORO1A DOCK8

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 28 CD27

Anatomical Context for Lymphoproliferative Syndrome 2

Organs/tissues related to Lymphoproliferative Syndrome 2:

MalaCards : Bone Marrow, Bone, T Cells, Nk Cells, B Cells
ODiseA: Blood And Bone Marrow

Publications for Lymphoproliferative Syndrome 2

Articles related to Lymphoproliferative Syndrome 2:

(show all 22)
# Title Authors PMID Year
1
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. 62 57 5
22801960 2013
2
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. 62 57 5
22197273 2012
3
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. 62 5
25843314 2015
4
CD27: a new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder? 57
22365582 2012
5
The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature. 62
35398861 2022
6
XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells. 62
34739338 2021
7
Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2. 62
32686289 2021
8
Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease. 62
32041749 2020
9
Unique BIR domain sets determine inhibitor of apoptosis protein-driven cell death and NOD2 complex signal specificity. 62
30018081 2018
10
CD27 co-stimulation increases the abundance of regulatory T cells and reduces atherosclerosis in hyperlipidaemic mice. 62
29045618 2017
11
Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease. 62
28404814 2017
12
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. 62
28011864 2017
13
Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. 62
28011863 2017
14
Acute Virus Control Mediated by Licensed NK Cells Sets Primary CD8+ T Cell Dependence on CD27 Costimulation. 62
27798162 2016
15
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start? 62
26661331 2016
16
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. 62
25163701 2014
17
CD8+ T cells produce the chemokine CXCL10 in response to CD27/CD70 costimulation to promote generation of the CD8+ effector T cell pool. 62
23940275 2013
18
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. 62
21543760 2011
19
The Pim kinase pathway contributes to survival signaling in primed CD8+ T cells upon CD27 costimulation. 62
21048108 2010
20
CD27 instructs CD4+ T cells to provide help for the memory CD8+ T cell response after protein immunization. 62
18606659 2008
21
Unrelated cord blood transplantation for severe combined immunodeficiency and other primary immunodeficiencies. 62
18084339 2008
22
CD27 is acquired by primed B cells at the centroblast stage and promotes germinal center formation. 62
15187121 2004

Variations for Lymphoproliferative Syndrome 2

ClinVar genetic disease variations for Lymphoproliferative Syndrome 2:

5 (show top 50) (show all 119)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD27-AS1, CD27 NM_001242.5(CD27):c.541C>T (p.Gln181Ter) SNV Pathogenic
540910 rs779092602 GRCh37: 12:6560063-6560063
GRCh38: 12:6450897-6450897
2 CD27-AS1, CD27 NM_001242.5(CD27):c.239dup (p.His80fs) DUP Pathogenic
578414 rs748418658 GRCh37: 12:6554691-6554692
GRCh38: 12:6445525-6445526
3 CD27-AS1, CD27 NM_001242.5(CD27):c.24G>A (p.Trp8Ter) SNV Pathogenic
40889 rs398122933 GRCh37: 12:6554285-6554285
GRCh38: 12:6445119-6445119
4 XIAP NM_001167.4(XIAP):c.-10_977+11del DEL Pathogenic
973578 GRCh37: X:123019498-123022574
GRCh38: X:123885648-123888724
5 CD27-AS1, CD27 NM_001242.5(CD27):c.158G>A (p.Cys53Tyr) SNV Pathogenic
40890 rs397514667 GRCh37: 12:6554611-6554611
GRCh38: 12:6445445-6445445
6 CD27-AS1, CD27 NM_001242.5(CD27):c.98G>A (p.Trp33Ter) SNV Likely Pathogenic
1339535 GRCh37: 12:6554359-6554359
GRCh38: 12:6445193-6445193
7 CD27-AS1, CD27 NM_001242.5(CD27):c.714G>T (p.Arg238Ser) SNV Uncertain Significance
1355952 GRCh37: 12:6560489-6560489
GRCh38: 12:6451323-6451323
8 CD27-AS1, CD27 NM_001242.5(CD27):c.568_569insG (p.Ile190fs) INSERT Uncertain Significance
1380182 GRCh37: 12:6560090-6560091
GRCh38: 12:6450924-6450925
9 CD27-AS1, CD27 NM_001242.5(CD27):c.299C>T (p.Ala100Val) SNV Uncertain Significance
1389297 GRCh37: 12:6559369-6559369
GRCh38: 12:6450203-6450203
10 CD27-AS1, CD27 NM_001242.5(CD27):c.388G>A (p.Ala130Thr) SNV Uncertain Significance
1439434 GRCh37: 12:6559458-6559458
GRCh38: 12:6450292-6450292
11 CD27 NC_000012.11:g.(?_6559319)_(6559816_?)dup DUP Uncertain Significance
1466434 GRCh37: 12:6559319-6559816
GRCh38:
12 CD27-AS1, CD27 NM_001242.5(CD27):c.88A>G (p.Arg30Gly) SNV Uncertain Significance
1365459 GRCh37: 12:6554349-6554349
GRCh38: 12:6445183-6445183
13 CD27-AS1, CD27 NM_001242.5(CD27):c.268+3G>A SNV Uncertain Significance
1491833 GRCh37: 12:6554724-6554724
GRCh38: 12:6445558-6445558
14 CD27-AS1, CD27 NM_001242.5(CD27):c.73A>G (p.Lys25Glu) SNV Uncertain Significance
1471071 GRCh37: 12:6554334-6554334
GRCh38: 12:6445168-6445168
15 CD27-AS1, CD27 NM_001242.5(CD27):c.451A>G (p.Met151Val) SNV Uncertain Significance
1485843 GRCh37: 12:6559709-6559709
GRCh38: 12:6450543-6450543
16 CD27-AS1, CD27 NM_001242.5(CD27):c.208T>C (p.Ser70Pro) SNV Uncertain Significance
1508920 GRCh37: 12:6554661-6554661
GRCh38: 12:6445495-6445495
17 CD27-AS1, CD27 NM_001242.5(CD27):c.233G>A (p.Arg78Gln) SNV Uncertain Significance
649825 rs145433356 GRCh37: 12:6554686-6554686
GRCh38: 12:6445520-6445520
18 CD27-AS1, CD27 NM_001242.5(CD27):c.391C>T (p.Arg131Trp) SNV Uncertain Significance
847571 rs150578547 GRCh37: 12:6559461-6559461
GRCh38: 12:6450295-6450295
19 CD27-AS1, CD27 NM_001242.5(CD27):c.413C>T (p.Pro138Leu) SNV Uncertain Significance
860936 rs373368586 GRCh37: 12:6559483-6559483
GRCh38: 12:6450317-6450317
20 CD27-AS1, CD27 NM_001242.5(CD27):c.281G>A (p.Arg94His) SNV Uncertain Significance
1053418 GRCh37: 12:6559351-6559351
GRCh38: 12:6450185-6450185
21 CD27-AS1, CD27 NM_001242.5(CD27):c.31G>A (p.Val11Ile) SNV Uncertain Significance
1059188 GRCh37: 12:6554292-6554292
GRCh38: 12:6445126-6445126
22 CD27-AS1, CD27 NM_001242.5(CD27):c.8G>A (p.Arg3Gln) SNV Uncertain Significance
1060135 GRCh37: 12:6554269-6554269
GRCh38: 12:6445103-6445103
23 CD27-AS1, CD27 NM_001242.5(CD27):c.467C>T (p.Thr156Ile) SNV Uncertain Significance
1360809 GRCh37: 12:6559725-6559725
GRCh38: 12:6450559-6450559
24 CD27-AS1, CD27 NM_001242.5(CD27):c.202G>T (p.Gly68Trp) SNV Uncertain Significance
1354119 GRCh37: 12:6554655-6554655
GRCh38: 12:6445489-6445489
25 CD27-AS1, CD27 NM_001242.5(CD27):c.497T>G (p.Phe166Cys) SNV Uncertain Significance
1370281 GRCh37: 12:6559755-6559755
GRCh38: 12:6450589-6450589
26 CD27-AS1, CD27 NM_001242.5(CD27):c.448+13C>T SNV Uncertain Significance
1422728 GRCh37: 12:6559531-6559531
GRCh38: 12:6450365-6450365
27 CD27-AS1, CD27 NM_001242.5(CD27):c.490G>C (p.Ala164Pro) SNV Uncertain Significance
1410636 GRCh37: 12:6559748-6559748
GRCh38: 12:6450582-6450582
28 CD27-AS1, CD27 NM_001242.5(CD27):c.671G>A (p.Ser224Asn) SNV Uncertain Significance
1442590 GRCh37: 12:6560446-6560446
GRCh38: 12:6451280-6451280
29 CD27-AS1, CD27 NM_001242.5(CD27):c.386C>G (p.Thr129Ser) SNV Uncertain Significance
1468018 GRCh37: 12:6559456-6559456
GRCh38: 12:6450290-6450290
30 CD27-AS1, CD27 NM_001242.5(CD27):c.155A>G (p.Asp52Gly) SNV Uncertain Significance
1444408 GRCh37: 12:6554608-6554608
GRCh38: 12:6445442-6445442
31 CD27-AS1, CD27 NM_001242.5(CD27):c.37G>T (p.Gly13Trp) SNV Uncertain Significance
1445330 GRCh37: 12:6554298-6554298
GRCh38: 12:6445132-6445132
32 CD27-AS1, CD27 NM_001242.5(CD27):c.174G>T (p.Lys58Asn) SNV Uncertain Significance
1505043 GRCh37: 12:6554627-6554627
GRCh38: 12:6445461-6445461
33 CD27-AS1, CD27 NM_001242.5(CD27):c.193T>G (p.Cys65Gly) SNV Uncertain Significance
1346482 GRCh37: 12:6554646-6554646
GRCh38: 12:6445480-6445480
34 CD27-AS1, CD27 NM_001242.5(CD27):c.101C>T (p.Ala34Val) SNV Uncertain Significance
1485375 GRCh37: 12:6554362-6554362
GRCh38: 12:6445196-6445196
35 CD27-AS1, CD27 NM_001242.5(CD27):c.359G>A (p.Cys120Tyr) SNV Uncertain Significance
839080 rs1949502158 GRCh37: 12:6559429-6559429
GRCh38: 12:6450263-6450263
36 CD27-AS1, CD27 NM_001242.5(CD27):c.395C>T (p.Ser132Leu) SNV Uncertain Significance
842024 rs765725985 GRCh37: 12:6559465-6559465
GRCh38: 12:6450299-6450299
37 CD27-AS1, CD27 NM_001242.5(CD27):c.38G>T (p.Gly13Val) SNV Uncertain Significance
863143 rs769004909 GRCh37: 12:6554299-6554299
GRCh38: 12:6445133-6445133
38 CD27-AS1, CD27 NM_001242.5(CD27):c.778C>T (p.Pro260Ser) SNV Uncertain Significance
934493 rs752860747 GRCh37: 12:6560553-6560553
GRCh38: 12:6451387-6451387
39 CD27-AS1, CD27 NM_001242.5(CD27):c.766C>G (p.Pro256Ala) SNV Uncertain Significance
947501 rs751930967 GRCh37: 12:6560541-6560541
GRCh38: 12:6451375-6451375
40 CD27-AS1, CD27 NM_001242.5(CD27):c.67G>A (p.Ala23Thr) SNV Uncertain Significance
949703 rs975388482 GRCh37: 12:6554328-6554328
GRCh38: 12:6445162-6445162
41 CD27-AS1, CD27 NM_001242.5(CD27):c.417C>A (p.His139Gln) SNV Uncertain Significance
949853 rs144098443 GRCh37: 12:6559487-6559487
GRCh38: 12:6450321-6450321
42 CD27-AS1, CD27 NM_001242.5(CD27):c.320G>A (p.Arg107His) SNV Uncertain Significance
954101 rs376790183 GRCh37: 12:6559390-6559390
GRCh38: 12:6450224-6450224
43 CD27-AS1, CD27 NM_001242.5(CD27):c.205G>T (p.Val69Phe) SNV Uncertain Significance
956186 rs778001062 GRCh37: 12:6554658-6554658
GRCh38: 12:6445492-6445492
44 CD27-AS1, CD27 NM_001242.5(CD27):c.319C>T (p.Arg107Cys) SNV Uncertain Significance
827695 rs371761387 GRCh37: 12:6559389-6559389
GRCh38: 12:6450223-6450223
45 CD27-AS1, CD27 NM_001242.5(CD27):c.761C>A (p.Pro254Gln) SNV Uncertain Significance
963059 rs1462831179 GRCh37: 12:6560536-6560536
GRCh38: 12:6451370-6451370
46 CD27-AS1, CD27 NM_001242.5(CD27):c.538C>T (p.Pro180Ser) SNV Uncertain Significance
965024 rs757920860 GRCh37: 12:6559796-6559796
GRCh38: 12:6450630-6450630
47 CD27-AS1, CD27 NM_001242.5(CD27):c.22T>C (p.Trp8Arg) SNV Uncertain Significance
972012 rs1949394416 GRCh37: 12:6554283-6554283
GRCh38: 12:6445117-6445117
48 CD27-AS1, CD27 NM_001242.5(CD27):c.763G>C (p.Glu255Gln) SNV Uncertain Significance
1003118 rs766655010 GRCh37: 12:6560538-6560538
GRCh38: 12:6451372-6451372
49 CD27-AS1, CD27 NM_001242.5(CD27):c.586T>C (p.Phe196Leu) SNV Uncertain Significance
1010640 rs1281975793 GRCh37: 12:6560108-6560108
GRCh38: 12:6450942-6450942
50 CD27-AS1, CD27 NM_001242.5(CD27):c.685G>A (p.Ala229Thr) SNV Uncertain Significance
1021457 rs144240256 GRCh37: 12:6560460-6560460
GRCh38: 12:6451294-6451294

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 UNC13D TNFSF9 TNFRSF4 TNFRSF13B STXBP2 SH2D1A
2
Show member pathways
12.88 TNFSF9 TNFRSF4 TNFRSF13B STXBP2 CD70 CD4
3
Show member pathways
12.7 XIAP TNFSF9 TNFRSF4 TNFRSF13B ITK CD70
4 12.22 TNFRSF4 SH2D1A ITK CD8A
5
Show member pathways
12.1 CD27 CD70 TNFRSF13B TNFRSF4 TNFSF9
6 11.67 SLAMF1 CD8A CD4
7 11.41 SLAMF1 CD8A CD4
8
Show member pathways
11.36 XIAP TNFRSF4 TNFRSF13B

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 9.64 TNFRSF4 TNFRSF13B MAGT1 CD8A CD70 CD4
2 plasma membrane GO:0005887 9.64 TNFRSF4 TNFRSF13B MAGT1 CD8A CD70 CD4

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

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.93 TNFRSF13B SLAMF1 SH2D1A ITK CD8A CD4
2 T cell proliferation GO:0042098 9.73 TNFRSF4 CTPS1 CORO1A
3 natural killer cell degranulation GO:0043320 9.62 UNC13D CORO1A
4 immune system process GO:0002376 9.5 TNFRSF13B SLAMF1 SH2D1A ITK CTPS1 CD8A
5 T cell activation GO:0042110 9.17 ITK CORO1A CD8A CD4

Sources for Lymphoproliferative Syndrome 2

2 CDC
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
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
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
71 UMLS
72 UMLS via Orphanet
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