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 ⁷³ ⁶

Lpfs3 ⁵⁷ ⁷³

Combined Immunodeficiency Due to Cd70 Deficiency ⁵⁸

Cid Due to Cd70 Deficiency ⁵⁸

Cd70 Deficiency ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life

HPO:

³¹

lymphoproliferative syndrome 3:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

OMIM® ⁵⁷ 618261

OMIM Phenotypic Series ⁵⁷ PS308240

MeSH ⁴⁴ D008232

Orphanet ⁵⁸ ORPHA538958

MedGen ⁴¹ C4748863 CN258055

SNOMED-CT via HPO ⁶⁸ 118599009 118602004 118605002 more

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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) (Updated 05-Mar-2021)

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 4-1BB Pathway. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent infections and lymphadenopathy

UniProtKB/Swiss-Prot : ⁷³ 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

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune lymphoproliferative syndrome, type iii	11.5
2	agammaglobulinemia	10.1
3	pfeiffer syndrome	10.0
4	keratitis, hereditary	9.9
5	immune deficiency disease	9.9
6	hemophagocytic lymphohistiocytosis	9.9
7	combined immunodeficiency	9.9
8	tonsillitis	9.9
9	lymphocytic choriomeningitis	9.9
10	uveitis	9.9
11	pharyngitis	9.9
12	gingivitis	9.9
13	cervical adenitis	9.9
14	viral encephalitis	9.9
15	herpes zoster	9.9
16	chickenpox	9.9
17	encephalitis	9.9
18	stomatitis	9.9
19	aphthous stomatitis	9.9
20	lymphoproliferative syndrome	9.6	PRKCD CD70
21	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:

³¹ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	recurrent infections ³¹	very rare (1%)	HP:0002719
2	lymphadenopathy ³¹	very rare (1%)	HP:0002716
3	hepatosplenomegaly ³¹	very rare (1%)	HP:0001433
4	recurrent fever ³¹	very rare (1%)	HP:0001954
5	hodgkin lymphoma ³¹	very rare (1%)	HP:0012189
6	reduced natural killer cell count ³¹	very rare (1%)	HP:0040218
7	severe varicella zoster infection ³¹	very rare (1%)	HP:0032170
8	partial absence of specific antibody response to tetanus vaccine ³¹	very rare (1%)	HP:0410297
9	lymphoproliferative disorder ³¹		HP:0005523

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 05-Mar-2021)

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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:

⁴⁰

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	Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection. ⁶¹ ⁵⁷ ⁶	Izawa K...Latour S	28011863	2017
2	Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. ⁶ ⁵⁷ ⁶¹	Abolhassani H...Pan-Hammarstrom Q	28011864	2017
3	Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. ⁶¹	Ghosh S...Boztug K	32603431	2020
4	CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman. ⁶¹	Kruger R...von Bernuth H	32849540	2020
5	It's all in the family. ⁶¹	Griffin GK	28783700	2017
6	CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever. ⁶¹	Caorsi R...Gattorno M	29434583	2017
7	CD70 deficiency impairs effector CD8 T cell generation and viral clearance but is dispensable for the recall response to lymphocytic choriomeningitis virus. ⁶¹	Munitic I...Ashwell JD	23269247	2013
8	The CD27 and CD70 costimulatory pathway inhibits effector function of T helper 17 cells and attenuates associated autoimmunity. ⁶¹	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	PubMed IDs
1	CD70	CD70 Molecule	Protein Coding	1257.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders (show sections)	28011863
2	PRKCD	Protein Kinase C Delta	Protein Coding	7.5	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CD70	NM_001252.5(CD70):c.535C>T (p.Arg179Ter)	SNV	Pathogenic	599337	rs368303189	19:6586078-6586078	19:6586067-6586067
2	CD70	NM_001252.5(CD70):c.250del (p.Ser84fs)	Deletion	Pathogenic	599338	rs1568431262	19:6586363-6586363	19:6586352-6586352
3	CD70	NM_001252.5(CD70):c.552_554CTT[1] (p.Phe186del)	Microsatellite	Pathogenic	599339	rs1568431102	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 ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	12.22	PRKCD CD70
2	4-1BB Pathway ⁶³ Show member pathways CD27 Pathway ⁶³ CD40 Signaling ⁶³ CMV and MAPK Pathways ⁶³ NF-KappaB Activation by EBV ⁶³ NF-kappaB Activation by Viruses ⁶³ PKR Pathway ⁶³ SUMO Pathway ⁶³ TNFR2 Pathway ⁶³	11.55	PRKCD CD70
3	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	11.15	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	B cell proliferation	GO:0042100	8.62	PRKCD CD70

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Sources for Lymphoproliferative Syndrome 3

¹ BioSystems

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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