LPFS3
MCID: LYM151
MIFTS: 32

Lymphoproliferative Syndrome 3 (LPFS3)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Lymphoproliferative Syndrome 3

MalaCards integrated aliases for Lymphoproliferative Syndrome 3:

Name: Lymphoproliferative Syndrome 3 57 73 5 38
Lpfs3 57 73
Combined Immunodeficiency Due to Cd70 Deficiency 58
Cid Due to Cd70 Deficiency 58
Cd70 Deficiency 57

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Combined Immunodeficiency Due to Cd70 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Combined Immunodeficiency Due to Cd70 Deficiency: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
onset in first years of life


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 618261
OMIM Phenotypic Series 57 PS308240
MeSH 43 D008232
ICD10 via Orphanet 32 D82.3
Orphanet 58 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) (Updated 08-Dec-2022)

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

Orphanet: 58 A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Beh├žet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.

UniProtKB/Swiss-Prot: 73 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:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent infections 30 Very rare (1%) HP:0002719
2 lymphadenopathy 30 Very rare (1%) HP:0002716
3 hepatosplenomegaly 30 Very rare (1%) HP:0001433
4 recurrent fever 30 Very rare (1%) HP:0001954
5 hodgkin lymphoma 30 Very rare (1%) HP:0012189
6 reduced natural killer cell count 30 Very rare (1%) HP:0040218
7 severe varicella zoster infection 30 Very rare (1%) HP:0032170
8 partial absence of specific antibody response to tetanus vaccine 30 Very rare (1%) HP:0410297
9 lymphoproliferative disorder 30 HP:0005523

Symptoms via clinical synopsis from OMIM®:

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

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

Organs/tissues related to Lymphoproliferative Syndrome 3:

MalaCards : 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. 62 57 5
28011864 2017
2
Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. 62 57 5
28011863 2017
3
Specific Immune Response and Cytokine Production in CD70 Deficiency. 62
33996677 2021
4
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. 62
32603431 2020
5
CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman. 62
32849540 2020
6
It's all in the family. 62
28783700 2017
7
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. 62
29434583 2017
8
CD70 deficiency impairs effector CD8 T cell generation and viral clearance but is dispensable for the recall response to lymphocytic choriomeningitis virus. 62
23269247 2013
9
The CD27 and CD70 costimulatory pathway inhibits effector function of T helper 17 cells and attenuates associated autoimmunity. 62
23159439 2013

Variations for Lymphoproliferative Syndrome 3

ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD70 NM_001252.5(CD70):c.535C>T (p.Arg179Ter) SNV Pathogenic
599337 rs368303189 GRCh37: 19:6586078-6586078
GRCh38: 19:6586067-6586067
2 CD70 NM_001252.5(CD70):c.250del (p.Ser84fs) DEL Pathogenic
599338 rs1568431262 GRCh37: 19:6586363-6586363
GRCh38: 19:6586352-6586352
3 CD70 NM_001252.5(CD70):c.552CTT[1] (p.Phe186del) MICROSAT Pathogenic
599339 rs1568431102 GRCh37: 19:6586056-6586058
GRCh38: 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
12.34 PRKCD CD70
2
Show member pathways
12.22 PRKCD CD70
3
Show member pathways
11.5 PRKCD CD70
4
Show member pathways
11.22 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 8.92 PRKCD CD70

Sources for Lymphoproliferative Syndrome 3

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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