LPFS3
MCID: LYM151
MIFTS: 29

Lymphoproliferative Syndrome 3 (LPFS3)

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

Aliases & Classifications for Lymphoproliferative Syndrome 3

MalaCards integrated aliases for Lymphoproliferative Syndrome 3:

Name: Lymphoproliferative Syndrome 3 56 73
Lpfs3 56 73
Combined Immunodeficiency Due to Cd70 Deficiency 58
Cid Due to Cd70 Deficiency 58
Cd70 Deficiency 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life


HPO:

31
lymphoproliferative syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 618261
OMIM Phenotypic Series 56 PS308240
MeSH 43 D008232
Orphanet 58 ORPHA538958

Summaries for Lymphoproliferative Syndrome 3

OMIM : 56 Lymphoproliferative syndrome-3 (LPFS3) is an autosomal recessive early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection in B cells, resulting in abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have hypogammaglobulinemia without lymphopenia, although some subsets of immune cells may be low and some patients may have recurrent infections. The disorder results from impaired signaling from proliferating B cells to effector T cells that provide immune surveillance. There may be an increased risk of solid tumors in heterozygous carriers (summary by Abolhassani et al., 2017). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). (618261)

MalaCards based summary : Lymphoproliferative Syndrome 3, also known as lpfs3, is related to autoimmune lymphoproliferative syndrome, type iii and agammaglobulinemia. An important gene associated with Lymphoproliferative Syndrome 3 is CD70 (CD70 Molecule), and among its related pathways/superpathways are PAK Pathway and 4-1BB Pathway. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent infections and hepatomegaly

UniProtKB/Swiss-Prot : 73 Lymphoproliferative syndrome 3: An autosomal recessive, early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus infection in B cells, abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have lymphadenopathy and hypogammaglobulinemia, and may suffer from recurrent infections.

Related Diseases for Lymphoproliferative Syndrome 3

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome 3:



Diseases related to Lymphoproliferative Syndrome 3

Symptoms & Phenotypes for Lymphoproliferative Syndrome 3

Human phenotypes related to Lymphoproliferative Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 recurrent infections 31 very rare (1%) HP:0002719
2 hepatomegaly 31 HP:0002240
3 lymphadenopathy 31 HP:0002716
4 lymphoproliferative disorder 31 HP:0005523
5 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

Neoplasia:
lymphoproliferative disorders
ebv-associated hodgkin lymphoma
possibly increased risk of solid tumors in heterozygous carriers

Immunology:
lymphadenopathy
recurrent infections (in some patients)
hypogammaglobulinemia
decreased nk cells (in some patients)
increased susceptibility to ebv infection
more

Clinical features from OMIM:

618261

Drugs & Therapeutics for Lymphoproliferative Syndrome 3

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 3

Genetic Tests for Lymphoproliferative Syndrome 3

Anatomical Context for Lymphoproliferative Syndrome 3

MalaCards organs/tissues related to Lymphoproliferative Syndrome 3:

40
B Cells, T Cells, Nk Cells

Publications for Lymphoproliferative Syndrome 3

Articles related to Lymphoproliferative Syndrome 3:

# Title Authors PMID Year
1
Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. 6 56 61
28011863 2017
2
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. 6 56 61
28011864 2017
3
It's all in the family. 61
28783700 2017
4
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. 61
29434583 2017
5
CD70 deficiency impairs effector CD8 T cell generation and viral clearance but is dispensable for the recall response to lymphocytic choriomeningitis virus. 61
23269247 2013
6
The CD27 and CD70 costimulatory pathway inhibits effector function of T helper 17 cells and attenuates associated autoimmunity. 61
23159439 2013

Variations for Lymphoproliferative Syndrome 3

ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD70 NM_001252.5(CD70):c.535C>T (p.Arg179Ter)SNV Pathogenic 599337 rs368303189 19:6586078-6586078 19:6586067-6586067
2 CD70 NM_001252.5(CD70):c.250del (p.Ser84fs)deletion Pathogenic 599338 rs1568431262 19:6586363-6586363 19:6586352-6586352
3 CD70 NM_001252.5(CD70):c.552_554CTT[1] (p.Phe186del)short repeat Pathogenic 599339 rs1568431102 19:6586056-6586058 19:6586045-6586047

Expression for Lymphoproliferative Syndrome 3

Search GEO for disease gene expression data for Lymphoproliferative Syndrome 3.

Pathways for Lymphoproliferative Syndrome 3

Pathways related to Lymphoproliferative Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 PRKCD CD70
2
Show member pathways
11.55 PRKCD CD70
3
Show member pathways
11.15 PRKCD CD70

GO Terms for Lymphoproliferative Syndrome 3

Biological processes related to Lymphoproliferative Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell proliferation GO:0042100 8.62 PRKCD CD70

Sources for Lymphoproliferative Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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