IMD50
MCID: IMM142
MIFTS: 25

Immunodeficiency 50 (IMD50)

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

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:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 300988
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
Orphanet 58 ORPHA504530

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.

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 immune deficiency disease 10.2
2 lymphopenia 10.2
3 chickenpox 10.2

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

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

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, Testes

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
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
1891877 1991
3
[The postvaccinal reaction in hamadryas baboons to the administration of attenuated strain 15 of the Venezuelan equine encephalomyelitis virus]. 61
2054507 1991
4
Evaluation of repeated immunoassays (mouse intracerebral potency tests) of the second International Standard of Pertussis Vaccine. 61
3680532 1987
5
Immunogenicity of hepatitis B vaccine in guinea-pigs, mice and man. 61
4030794 1985
6
[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 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

Expression for Immunodeficiency 50

Search GEO for disease gene expression data for Immunodeficiency 50.

Pathways for Immunodeficiency 50

GO Terms for Immunodeficiency 50

Sources for Immunodeficiency 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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