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 ⁶

Cd70 Deficiency ⁵⁸

Lpfs3 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life

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

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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 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.

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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
Autosomal Recessive Lymphoproliferative Disease

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

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune lymphoproliferative syndrome, type iii	11.7
2	lymphocytic choriomeningitis	9.9
3	combined t cell and b cell immunodeficiency	9.9
4	common variable immunodeficiency	9.7	CD70 PRKCD

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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

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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-HammarstrAPm 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 J.D.	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	28011864 28011863
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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Lymphoproliferative Syndrome 3 (LPFS3)

Aliases & Classifications for Lymphoproliferative Syndrome 3

MalaCards integrated aliases for Lymphoproliferative Syndrome 3:

Characteristics:

OMIM:

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:

Symptoms & Phenotypes for 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