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 ⁵⁸ ⁷⁶ ⁶

Immunodeficiency 50, X-Linked Recessive ⁵⁸ ⁷⁶

Imd50 ⁵⁸ ⁷⁶

Combined Immunodeficiency Due to Moesin Deficiency ⁶⁰

X-Linked Moesin-Associated Immunodeficiency ⁶⁰

Msn-Related Combined Immunodeficiency ⁶⁰

Cid Due to Moesin Deficiency ⁶⁰

Characteristics:

OMIM:

⁵⁸

Miscellaneous:
onset in early childhood
female carriers are unaffected

Inheritance:
x-linked recessive

HPO:

³³

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: ⁶⁰

Rare immunological diseases

External Ids:

OMIM ⁵⁸ 300988

MeSH ⁴⁵ D007153

Orphanet ⁶⁰ ORPHA504530

MedGen ⁴³ C4310812 CN239572

SNOMED-CT via HPO ⁷⁰ 119250001 165517008 197927001 more

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Summaries for Immunodeficiency 50

OMIM : ⁵⁸ 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 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked. An important gene associated with Immunodeficiency 50 is MSN (Moesin). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are recurrent respiratory infections and decreased antibody level in blood

UniProtKB/Swiss-Prot : ⁷⁶ 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	Top Affiliating Genes
1	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	10.2

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Symptoms & Phenotypes for Immunodeficiency 50

Human phenotypes related to Immunodeficiency 50:

³³ (show all 6)

#	Description	HPO Source Accession
1	recurrent respiratory infections ³³	HP:0002205
2	decreased antibody level in blood ³³	HP:0004313
3	lymphopenia ³³	HP:0001888
4	neutropenia ³³	HP:0001875
5	eczema ³³	HP:0000964
6	recurrent urinary tract infections ³³	HP:0000010

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Respiratory:
respiratory infections, recurrent

Genitourinary:
urinary tract infections, recurrent

Skin Nails Hair Skin:
eczema

Abdomen Gastrointestinal:
gastrointestinal 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

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Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

⁴²

T Cells, B Cells, Nk Cells

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Publications for Immunodeficiency 50

Articles related to Immunodeficiency 50:

#	Title	Authors	Year
1	Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. ( 29556235 )	Bradshaw G...Griffiths LR	2018
2	X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. ( 27405666 )	Lagresle-Peyrou C...Andr?-Schmutz I	2016

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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	1576.69	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	27405666
2	STIM1	Stromal Interaction Molecule 1	Protein Coding	16.5	GeneCards inferred via : Publications (show sections)

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Variations for Immunodeficiency 50

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

⁷⁶

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

ClinVar genetic disease variations for Immunodeficiency 50:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MSN	NM_002444.2(MSN): c.511C> T (p.Arg171Trp)	single nucleotide variant	Pathogenic	rs1057519074	GRCh37	Chromosome X, 64951012: 64951012
2	MSN	NM_002444.2(MSN): c.511C> T (p.Arg171Trp)	single nucleotide variant	Pathogenic	rs1057519074	GRCh38	Chromosome X, 65731150: 65731150
3	MSN	NM_002444.2(MSN): c.1657C> T (p.Arg553Ter)	single nucleotide variant	Pathogenic	rs1057519075	GRCh38	Chromosome X, 65739816: 65739816
4	MSN	NM_002444.2(MSN): c.1657C> T (p.Arg553Ter)	single nucleotide variant	Pathogenic	rs1057519075	GRCh37	Chromosome X, 64959678: 64959678

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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

Cellular components related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	8.62	MSN STIM1

Sources

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

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

ClinVar genetic disease variations for Immunodeficiency 50:

Expression for Immunodeficiency 50

Pathways for Immunodeficiency 50

GO Terms for Immunodeficiency 50

Cellular components related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 50