Immunodeficiency 50 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 50

MalaCards integrated aliases for Immunodeficiency 50:

Name: Immunodeficiency 50 ⁵⁶ ⁷³ ²⁹ ⁶

Immunodeficiency 50, X-Linked Recessive ⁵⁶ ⁷³

Imd50 ⁵⁶ ⁷³

Combined Immunodeficiency Due to Moesin Deficiency ⁵⁸

X-Linked Moesin-Associated Immunodeficiency ⁵⁸

Msn-Related Combined Immunodeficiency ⁵⁸

Cid Due to Moesin Deficiency ⁵⁸

Characteristics:

OMIM:

⁵⁶

Miscellaneous:
onset in early childhood
female carriers are unaffected

Inheritance:
x-linked recessive

HPO:

³¹

immunodeficiency 50:
Inheritance x-linked recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

OMIM ⁵⁶ 300988

OMIM Phenotypic Series ⁵⁶ PS300755

MeSH ⁴³ D007153

Orphanet ⁵⁸ ORPHA504530

MedGen ⁴¹ C4310812 CN239572

SNOMED-CT via HPO ⁶⁸ 119250001 165517008 197927001 more

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Summaries for Immunodeficiency 50

OMIM : ⁵⁶ IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016). (300988)

MalaCards based summary : Immunodeficiency 50, also known as immunodeficiency 50, x-linked recessive, is related to immune deficiency disease and lymphopenia. An important gene associated with Immunodeficiency 50 is MSN (Moesin). Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are recurrent respiratory infections and recurrent urinary tract infections

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 50: A primary immunodeficiency disorder characterized by onset of recurrent bacterial or varicella zoster virus infections in early childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, and a poor immune response to vaccine antigens.

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Related Diseases for Immunodeficiency 50

Diseases related to Immunodeficiency 50 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	immune deficiency disease	10.2
2	lymphopenia	10.2
3	chickenpox	10.2

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Symptoms & Phenotypes for Immunodeficiency 50

Human phenotypes related to Immunodeficiency 50:

³¹ (show all 6)

#	Description	HPO Source Accession
1	recurrent respiratory infections ³¹	HP:0002205
2	recurrent urinary tract infections ³¹	HP:0000010
3	lymphopenia ³¹	HP:0001888
4	neutropenia ³¹	HP:0001875
5	eczema ³¹	HP:0000964
6	decreased circulating antibody level ³¹	HP:0004313

Symptoms via clinical synopsis from OMIM:

⁵⁶

Immunology:
lymphopenia
hypogammaglobulinemia
decreased numbers of b cells
decreased numbers of t cells
recurrent infections, bacterial
more

Respiratory:
respiratory infections, recurrent

Abdomen Gastrointestinal:
gastrointestinal tract infections, recurrent

Skin Nails Hair Skin:
eczema

Genitourinary:
urinary tract infections, recurrent

Clinical features from OMIM:

300988

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Drugs & Therapeutics for Immunodeficiency 50

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 50

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Genetic Tests for Immunodeficiency 50

Genetic tests related to Immunodeficiency 50:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 50 ²⁹	MSN

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Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

⁴⁰

T Cells, Nk Cells, B Cells, Testes

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Publications for Immunodeficiency 50

Articles related to Immunodeficiency 50:

#	Title	Authors	PMID	Year
1	X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. ⁵⁶ ⁶	Lagresle-Peyrou C...Andre-Schmutz I	27405666	2016
2	[The protective activity of the attenuated strain 15 of the Venezuelan equine encephalomyelitis virus in rodent infection via the respiratory tract]. ⁶¹	Filatenkov AG...Khamitova MF	1891877	1991
3	[The postvaccinal reaction in hamadryas baboons to the administration of attenuated strain 15 of the Venezuelan equine encephalomyelitis virus]. ⁶¹	Filatenkov AG...Shkurnikova NN	2054507	1991
4	Evaluation of repeated immunoassays (mouse intracerebral potency tests) of the second International Standard of Pertussis Vaccine. ⁶¹	Gupta RK...Saxena SN	3680532	1987
5	Immunogenicity of hepatitis B vaccine in guinea-pigs, mice and man. ⁶¹	Mazert MC...Goudeau A	4030794	1985
6	[Isolation and purification of a preparation possessing leukocytosis-stimulating properties from pertussis bacteria]. ⁶¹	Trofimova NP...Syresina GI	190830	1977

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Genes for Immunodeficiency 50

Genes related to Immunodeficiency 50 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MSN	Moesin	Protein Coding	1666.5	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27405666

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Variations for Immunodeficiency 50

ClinVar genetic disease variations for Immunodeficiency 50:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MSN	NM_002444.3(MSN):c.511C>T (p.Arg171Trp)	SNV	Pathogenic	372154	rs1057519074	X:64951012-64951012	X:65731150-65731150
2	MSN	NM_002444.3(MSN):c.1657C>T (p.Arg553Ter)	SNV	Pathogenic	372155	rs1057519075	X:64959678-64959678	X:65739816-65739816
3	MSN	NM_002444.3(MSN):c.1601A>C (p.Asp534Ala)	SNV	Likely pathogenic	804017		X:64959622-64959622	X:65739760-65739760

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 50:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MSN	p.Arg171Trp	VAR_078026	rs105751907

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Expression for Immunodeficiency 50

Search GEO for disease gene expression data for Immunodeficiency 50.

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Pathways for Immunodeficiency 50

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GO Terms for Immunodeficiency 50

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Sources for Immunodeficiency 50

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Immunodeficiency 50 (IMD50)

Aliases & Classifications for Immunodeficiency 50

MalaCards integrated aliases for Immunodeficiency 50:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 50

Related Diseases for Immunodeficiency 50

Diseases related to Immunodeficiency 50 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Immunodeficiency 50

Human phenotypes related to Immunodeficiency 50:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Immunodeficiency 50

Genetic Tests for Immunodeficiency 50

Genetic tests related to Immunodeficiency 50:

Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

Publications for Immunodeficiency 50

Articles related to Immunodeficiency 50:

Genes for Immunodeficiency 50

Genes related to Immunodeficiency 50 (1 elite genes):

Variations for Immunodeficiency 50

ClinVar genetic disease variations for Immunodeficiency 50:

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 50:

Expression for Immunodeficiency 50

Pathways for Immunodeficiency 50

GO Terms for Immunodeficiency 50

Sources for Immunodeficiency 50