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 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵

Imd50 ⁵⁷ ¹² ⁷²

Combined Immunodeficiency Due to Moesin Deficiency ¹² ⁵⁸

X-Linked Moesin-Associated Immunodeficiency ¹² ⁵⁸

Immunodeficiency 50, X-Linked Recessive ⁵⁷ ⁷²

Msn-Related Combined Immunodeficiency ¹² ⁵⁸

Cid Due to Moesin Deficiency ¹² ⁵⁸

Immunodeficiency 50 X Linked Recessive ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 Infectious diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0112001

OMIM® ⁵⁷ 300988

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ 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® : ⁵⁷ 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) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 50, also known as imd50, is related to immune deficiency disease and lymphopenia. An important gene associated with Immunodeficiency 50 is MSN (Moesin), and among its related pathways/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Regulation of actin cytoskeleton. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are recurrent respiratory infections and lymphopenia

Disease Ontology : ¹² A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has material basis in hemizygous mutation in MSN on chromosome Xq12.

UniProtKB/Swiss-Prot : ⁷² 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:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	immune deficiency disease	10.2
2	lymphopenia	10.2
3	chickenpox	10.2
4	neisseria meningitidis infection	10.0	MSN EZR
5	deafness, autosomal recessive 24	9.9	RDX EZR
6	nystagmus 6, congenital, x-linked	9.9	RDX MSN EZR
7	acoustic neuroma	9.9	RDX MSN EZR
8	kindler syndrome	9.8	RDX MSN EZR
9	neurofibromatosis, type ii	9.8	RDX MSN EZR
10	neurilemmoma	9.8	RDX MSN EZR
11	immunodeficiency 36	9.8	CD8A B3GAT1
12	pathologic nystagmus	9.8	RDX MSN EZR
13	felty syndrome	9.7	CD8A B3GAT1
14	meningioma, familial	9.7	RDX MSN EZR
15	mature t-cell and nk-cell lymphoma	9.5	TET2 CD8A

Graphical network of the top 20 diseases related to Immunodeficiency 50:

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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	lymphopenia ³¹	HP:0001888
3	recurrent urinary tract infections ³¹	HP:0000010
4	neutropenia ³¹	HP:0001875
5	eczema ³¹	HP:0000964
6	decreased circulating antibody level ³¹	HP:0004313

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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

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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. ⁶ ⁵⁷	Lagresle-Peyrou C...Andre-Schmutz I	27405666	2016
2	Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. ⁶	Bradshaw G...Griffiths LR	29556235	2018
3	First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID. ⁶	Delmonte OM...Notarangelo LD	28378256	2017
4	[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
5	[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
6	Evaluation of repeated immunoassays (mouse intracerebral potency tests) of the second International Standard of Pertussis Vaccine. ⁶¹	Gupta RK...Saxena SN	3680532	1987
7	Immunogenicity of hepatitis B vaccine in guinea-pigs, mice and man. ⁶¹	Mazert MC...Goudeau A	4030794	1985
8	[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	PubMed IDs
1	MSN	Moesin	Protein Coding	1697.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	27405666
2	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	6.47	DISEASES inferred ¹⁵
3	NLRP8	NLR Family Pyrin Domain Containing 8	Protein Coding	5.96	DISEASES inferred ¹⁵
4	RDX	Radixin	Protein Coding	5.87	DISEASES inferred ¹⁵
5	EZR	Ezrin	Protein Coding	5.66	DISEASES inferred ¹⁵
6	SIRPB1	Signal Regulatory Protein Beta 1	Protein Coding	5.54	DISEASES inferred ¹⁵
7	B3GAT1	Beta-1,3-Glucuronyltransferase 1	Protein Coding	5.22	DISEASES inferred ¹⁵
8	TET2	Tet Methylcytosine Dioxygenase 2	Protein Coding	3.72	DISEASES inferred ¹⁵
9	CD8A	CD8a Molecule	Protein Coding	3.54	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 50

ClinVar genetic disease variations for Immunodeficiency 50:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MSN	NM_002444.3(MSN):c.1657C>T (p.Arg553Ter)	SNV	Pathogenic	372155	rs1057519075	GRCh37: X:64959678-64959678 GRCh38: X:65739816-65739816
2	MSN	NM_002444.3(MSN):c.511C>T (p.Arg171Trp)	SNV	Pathogenic	372154	rs1057519074	GRCh37: X:64951012-64951012 GRCh38: X:65731150-65731150
3	MSN	NM_002444.3(MSN):c.1601A>C (p.Asp534Ala)	SNV	Likely pathogenic	804017	rs1602878106	GRCh37: X:64959622-64959622 GRCh38: X:65739760-65739760
4	MSN	NM_002444.3(MSN):c.817C>T (p.Arg273Trp)	SNV	Uncertain significance	982967		GRCh37: X:64955150-64955150 GRCh38: X:65735288-65735288

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

⁷²

#	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

Pathways related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁴ Leukocyte transendothelial migration ³⁶	12.26	RDX MSN EZR
2	Regulation of actin cytoskeleton ¹ ³⁶	12.2	RDX MSN EZR
3	Cytoskeletal Signaling ⁴	12.07	RDX MSN EZR
4	Proteoglycans in cancer ³⁶	11.86	RDX MSN EZR
5	Tight junction ³⁶	11.66	RDX MSN EZR
6	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.43	RDX MSN EZR
7	AGE/RAGE pathway ¹	11.3	MSN EZR
8	Cell adhesion_ECM remodeling ²³	11.22	MSN EZR
9	Cytoskeleton remodeling_RalA regulation pathway ²³	11.04	RDX MSN EZR
10	Endocytic Trafficking of EGFR ⁶³ Show member pathways Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) ²³ Recycling pathway of L1 ⁶⁵ Retrograde neurotrophin signalling ⁶⁵	11.02	RDX MSN EZR
11	RhoA signaling pathway ¹	10.41	RDX MSN EZR

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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	focal adhesion	GO:0005925	9.65	RDX MSN EZR
2	apical plasma membrane	GO:0016324	9.63	RDX MSN EZR
3	T-tubule	GO:0030315	9.43	RDX EZR
4	filopodium	GO:0030175	9.43	RDX MSN EZR
5	plasma membrane raft	GO:0044853	9.4	EZR CD8A
6	microvillus membrane	GO:0031528	9.37	MSN EZR
7	microvillus	GO:0005902	9.33	RDX MSN EZR
8	uropod	GO:0001931	9.32	MSN EZR
9	cell periphery	GO:0071944	9.13	RDX MSN EZR
10	cell tip	GO:0051286	8.62	RDX EZR

Biological processes related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of cell shape	GO:0008360	9.65	RDX MSN EZR
2	regulation of cell size	GO:0008361	9.54	RDX MSN EZR
3	leukocyte cell-cell adhesion	GO:0007159	9.51	MSN EZR
4	establishment of endothelial barrier	GO:0061028	9.5	RDX MSN EZR
5	establishment of epithelial cell apical/basal polarity	GO:0045198	9.49	MSN EZR
6	protein kinase A signaling	GO:0010737	9.46	RDX EZR
7	gland morphogenesis	GO:0022612	9.43	MSN EZR
8	positive regulation of cellular protein catabolic process	GO:1903364	9.43	RDX MSN EZR
9	membrane to membrane docking	GO:0022614	9.4	MSN EZR
10	positive regulation of protein localization to early endosome	GO:1902966	9.33	RDX MSN EZR
11	positive regulation of early endosome to late endosome transport	GO:2000643	9.13	RDX MSN EZR
12	regulation of organelle assembly	GO:1902115	8.8	RDX MSN EZR

Molecular functions related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.43	RDX MSN EZR
2	cell adhesion molecule binding	GO:0050839	9.16	MSN EZR
3	protein kinase A binding	GO:0051018	8.96	RDX EZR
4	cytoskeletal protein binding	GO:0008092	8.8	RDX MSN EZR

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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:

Graphical network of the top 20 diseases related to Immunodeficiency 50:

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

Pathways related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 50

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

Biological processes related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 50 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 50