IMD50
MCID: IMM142
MIFTS: 37

Immunodeficiency 50 (IMD50)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

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:

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

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.

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:



Diseases related to Immunodeficiency 50

Symptoms & Phenotypes for Immunodeficiency 50

Human phenotypes related to Immunodeficiency 50:

31 (show all 6)
# Description HPO Frequency 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)

Drugs & Therapeutics for Immunodeficiency 50

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 50

Genetic Tests for Immunodeficiency 50

Genetic tests related to Immunodeficiency 50:

# Genetic test Affiliating Genes
1 Immunodeficiency 50 29 MSN

Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

40
T Cells, Nk Cells, B Cells

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
27405666 2016
2
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 6
29556235 2018
3
First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID. 6
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
1891877 1991
5
[The postvaccinal reaction in hamadryas baboons to the administration of attenuated strain 15 of the Venezuelan equine encephalomyelitis virus]. 61
2054507 1991
6
Evaluation of repeated immunoassays (mouse intracerebral potency tests) of the second International Standard of Pertussis Vaccine. 61
3680532 1987
7
Immunogenicity of hepatitis B vaccine in guinea-pigs, mice and man. 61
4030794 1985
8
[Isolation and purification of a preparation possessing leukocytosis-stimulating properties from pertussis bacteria]. 61
190830 1977

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

Expression for Immunodeficiency 50

Search GEO for disease gene expression data for Immunodeficiency 50.

Pathways for Immunodeficiency 50

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 for Immunodeficiency 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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