LPFS3
MCID: LYM151
MIFTS: 30

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 57 74 29 6
Lpfs3 57 74
Severe Combined Immunodeficiency Due to Cd70 Deficiency 59
Scid Due to Cd70 Deficiency 59
Cd70 Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life


HPO:

32
lymphoproliferative syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

MeSH 44 D008232
Orphanet 59 ORPHA538958

Summaries for Lymphoproliferative Syndrome 3

OMIM : 57 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 Development Angiotensin activation of ERK. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent infections and hepatomegaly

UniProtKB/Swiss-Prot : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 recurrent infections 32 very rare (1%) HP:0002719
2 hepatomegaly 32 HP:0002240
3 decreased antibody level in blood 32 HP:0004313
4 lymphoproliferative disorder 32 HP:0005523
5 lymphadenopathy 32 HP:0002716

Symptoms via clinical synopsis from OMIM:

57
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

Genetic tests related to Lymphoproliferative Syndrome 3:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 3 29 CD70

Anatomical Context for Lymphoproliferative Syndrome 3

MalaCards organs/tissues related to Lymphoproliferative Syndrome 3:

41
B Cells, T Cells, Nk Cells

Publications for Lymphoproliferative Syndrome 3

Articles related to Lymphoproliferative Syndrome 3:

# Title Authors PMID Year
1
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. 38 8 71
28011864 2017
2
Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. 38 8 71
28011863 2017
3
It's all in the family. 38
28783700 2017
4
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. 38
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. 38
23269247 2013
6
The CD27 and CD70 costimulatory pathway inhibits effector function of T helper 17 cells and attenuates associated autoimmunity. 38
23159439 2013

Variations for Lymphoproliferative Syndrome 3

ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD70 NM_001330332.2(CD70): c.448+87C> T single nucleotide variant Pathogenic 19:6586078-6586078 19:6586067-6586067
2 CD70 NM_001252.5(CD70): c.250del (p.Ser84fs) deletion Pathogenic 19:6586363-6586363 19:6586352-6586352
3 CD70 NM_001330332.2(CD70): c.448+107_448+109del short repeat Pathogenic 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

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 regulation of signaling receptor activity GO:0010469 8.32 PRKCD

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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