IMD50
MCID: IMM142
MIFTS: 21

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 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:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 300988
MeSH 45 D007153
Orphanet 60 ORPHA504530

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.

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

Symptoms & Phenotypes for Immunodeficiency 50

Human phenotypes related to Immunodeficiency 50:

33 (show all 6)
# Description HPO Frequency 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

Drugs & Therapeutics for Immunodeficiency 50

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 50

Genetic Tests for Immunodeficiency 50

Anatomical Context for Immunodeficiency 50

MalaCards organs/tissues related to Immunodeficiency 50:

42
T Cells, B Cells, Nk Cells

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 )
2018

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....