LPFS3
MCID: LYM151
MIFTS: 25

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 58 6
Cd70 Deficiency 58
Lpfs3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life


Classifications:



External Ids:

OMIM 58 618261

Summaries for Lymphoproliferative Syndrome 3

OMIM : 58 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 cd70 deficiency, is related to autoimmune lymphoproliferative syndrome, type iii and lymphocytic choriomeningitis. 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.

Related Diseases for Lymphoproliferative Syndrome 3

Symptoms & Phenotypes for Lymphoproliferative Syndrome 3

Symptoms via clinical synopsis from OMIM:

58
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:

42
B Cells, T Cells, Nk Cells

Publications for Lymphoproliferative Syndrome 3

Articles related to Lymphoproliferative Syndrome 3:

# Title Authors Year
1
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. ( 28011864 )
2017
2
Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. ( 28011863 )
2017
3
CD70 deficiency impairs effector CD8 T cell generation and viral clearance but is dispensable for the recall response to lymphocytic choriomeningitis virus. ( 23269247 )
2013

Variations for Lymphoproliferative Syndrome 3

ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD70 NM_001252.5(CD70): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 6586078: 6586078
2 CD70 NM_001252.5(CD70): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 6586067: 6586067
3 CD70 NM_001252.5(CD70): c.250delT (p.Ser84Profs) deletion Pathogenic GRCh38 Chromosome 19, 6586352: 6586352
4 CD70 NM_001252.5(CD70): c.250delT (p.Ser84Profs) deletion Pathogenic GRCh37 Chromosome 19, 6586363: 6586363
5 CD70 NM_001252.5(CD70): c.555_557del (p.Phe186del) deletion Pathogenic GRCh37 Chromosome 19, 6586056: 6586058
6 CD70 NM_001252.5(CD70): c.555_557del (p.Phe186del) deletion Pathogenic GRCh38 Chromosome 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 8.62 CD70 PRKCD

Sources for Lymphoproliferative Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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