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 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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 618261 PS308240

MeSH ⁴⁴ D008232

Orphanet ⁵⁹ ORPHA538958

MedGen ⁴² C4748863 CN258055

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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.

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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:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune lymphoproliferative syndrome, type iii	11.9
2	agammaglobulinemia	10.1
3	pfeiffer syndrome	9.9
4	keratitis, hereditary	9.9
5	immune deficiency disease	9.9
6	tonsillitis	9.9
7	lymphocytic choriomeningitis	9.9
8	pharyngitis	9.9
9	cervical adenitis	9.9
10	combined t cell and b cell immunodeficiency	9.9
11	viral encephalitis	9.9
12	chickenpox	9.9
13	stomatitis	9.9
14	aphthous stomatitis	9.9
15	common variable immunodeficiency	9.5	PRKCD CD70

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:

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

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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

Genetic tests related to Lymphoproliferative Syndrome 3:

#	Genetic test	Affiliating Genes
1	Lymphoproliferative Syndrome 3 ²⁹	CD70

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Anatomical Context for Lymphoproliferative Syndrome 3

MalaCards organs/tissues related to Lymphoproliferative Syndrome 3:

⁴¹

B Cells, T Cells, Nk Cells

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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	Abolhassani H...Pan-Hammarstrom Q	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	Izawa K...Latour S	28011863	2017
3	It's all in the family. ³⁸	Griffin GK	28783700	2017
4	CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. ³⁸	Caorsi R...Gattorno M	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	Munitic I...Ashwell JD	23269247	2013
6	The CD27 and CD70 costimulatory pathway inhibits effector function of T helper 17 cells and attenuates associated autoimmunity. ³⁸	Coquet JM...Borst J	23159439	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	1367.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	28011864 28011863
2	PRKCD	Protein Kinase C Delta	Protein Coding	17.85	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	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

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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 ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.32	PRKCD CD70
2	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	11.92	PRKCD CD70
3	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	11.49	PRKCD CD70
4	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	11.22	PRKCD CD70

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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	8.32	PRKCD

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Sources for Lymphoproliferative Syndrome 3

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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

Genetic tests related to 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