Lymphoproliferative Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lymphoproliferative Syndrome 3

MalaCards integrated aliases for Lymphoproliferative Syndrome 3:

Name: Lymphoproliferative Syndrome 3 ⁵⁸ ⁷⁶ ⁶

Lpfs3 ⁵⁸ ⁷⁶

Cd70 Deficiency ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life

HPO:

³³

lymphoproliferative syndrome 3:
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618261

MeSH ⁴⁵ D008232

MedGen ⁴³ CN258055

SNOMED-CT via HPO ⁷⁰ 119250001 277466009 30746006 more

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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 lpfs3, is related to severe combined immunodeficiency due to cd70 deficiency and autoimmune lymphoproliferative syndrome, type iii. 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 decreased antibody level in blood

UniProtKB/Swiss-Prot : ⁷⁶ 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.

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Related Diseases for Lymphoproliferative Syndrome 3

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	Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3	Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency

Diseases related to Lymphoproliferative Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency due to cd70 deficiency	12.3
2	autoimmune lymphoproliferative syndrome, type iii	11.7
3	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	9.9
4	lymphocytic choriomeningitis	9.9
5	combined t cell and b cell immunodeficiency	9.9
6	common variable immunodeficiency	9.7	CD70 PRKCD

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

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Symptoms & Phenotypes for Lymphoproliferative Syndrome 3

Human phenotypes related to Lymphoproliferative Syndrome 3:

³³

#	Description	HPO Frequency	HPO Source Accession
1	recurrent infections ³³	very rare (1%)	HP:0002719
2	decreased antibody level in blood ³³		HP:0004313
3	lymphoproliferative disorder ³³		HP:0005523
4	lymphadenopathy ³³		HP:0002716

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

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Drugs & Therapeutics for Lymphoproliferative Syndrome 3

Search Clinical Trials , NIH Clinical Center for Lymphoproliferative Syndrome 3

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Genetic Tests for Lymphoproliferative Syndrome 3

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Anatomical Context for Lymphoproliferative Syndrome 3

MalaCards organs/tissues related to Lymphoproliferative Syndrome 3:

⁴²

B Cells, T Cells, Nk Cells

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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 )	Abolhassani H...Pan-Hammarstr?m Q	2017
2	Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. ( 28011863 )	Izawa K...Latour S	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 )	Munitic I...Ashwell JD	2013

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Genes for Lymphoproliferative Syndrome 3

Genes related to Lymphoproliferative Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD70	CD70 Molecule	Protein Coding	900	Molecular basis known ⁵⁸ Pathogenic ⁶	28011863 28011864
2	PRKCD	Protein Kinase C Delta	Protein Coding	17.87	GeneCards inferred via : Disorders (show sections)

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Variations for Lymphoproliferative Syndrome 3

ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:

⁶

#	Gene	Variation	Type	Significance	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

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Expression for Lymphoproliferative Syndrome 3

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

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Pathways for Lymphoproliferative Syndrome 3

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

#	Super pathways	Score	Top Affiliating Genes
1	PAK Pathway ⁶⁵ Show member pathways Antioxidant Action of Vitamin-C ⁶⁵ Epithelial Adherens Junctions ⁶⁵	12.32	CD70 PRKCD
2	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	11.92	CD70 PRKCD
3	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	11.49	CD70 PRKCD
4	4-1BB Pathway ⁶⁵ Show member pathways CD27 Pathway ⁶⁵ CD40 Signaling ⁶⁵ CMV and MAPK Pathways ⁶⁵ NF-KappaB Activation by EBV ⁶⁵ NF-kappaB Activation by Viruses ⁶⁵ PKR Pathway ⁶⁵ SUMO Pathway ⁶⁵ TNFR2 Pathway ⁶⁵	11.22	CD70 PRKCD

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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

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Sources for Lymphoproliferative Syndrome 3

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lymphoproliferative Syndrome 3 (LPFS3)

Aliases & Classifications for Lymphoproliferative Syndrome 3

MalaCards integrated aliases for Lymphoproliferative Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lymphoproliferative Syndrome 3

Related Diseases for Lymphoproliferative Syndrome 3

Diseases in the Lymphoproliferative Syndrome family:

Diseases related to Lymphoproliferative Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Lymphoproliferative Syndrome 3

Human phenotypes related to Lymphoproliferative Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lymphoproliferative Syndrome 3

Genetic Tests for Lymphoproliferative Syndrome 3

Anatomical Context for Lymphoproliferative Syndrome 3

MalaCards organs/tissues related to Lymphoproliferative Syndrome 3:

Publications for Lymphoproliferative Syndrome 3

Articles related to Lymphoproliferative Syndrome 3:

Genes for Lymphoproliferative Syndrome 3

Genes related to Lymphoproliferative Syndrome 3 (1 elite genes):

Variations for Lymphoproliferative Syndrome 3

ClinVar genetic disease variations for Lymphoproliferative Syndrome 3:

Expression for Lymphoproliferative Syndrome 3

Pathways for Lymphoproliferative Syndrome 3

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

GO Terms for Lymphoproliferative Syndrome 3

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

Sources for Lymphoproliferative Syndrome 3