MCID: IMM142
MIFTS: 19

Immunodeficiency 50

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

Aliases & Classifications for Immunodeficiency 50

MalaCards integrated aliases for Immunodeficiency 50:

Name: Immunodeficiency 50 57 75 6
Immunodeficiency 50, X-Linked Recessive 57 75
Imd50 57 75
Combined Immunodeficiency Due to Moesin Deficiency 59
X-Linked Moesin-Associated Immunodeficiency 59
Msn-Related Combined Immunodeficiency 59
Cid Due to Moesin Deficiency 59

Characteristics:

OMIM:

57
Miscellaneous:
onset in early childhood
female carriers are unaffected

Inheritance:
x-linked recessive


HPO:

32
immunodeficiency 50:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 300988
Orphanet 59 ORPHA504530
MeSH 44 D007153

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)

MalaCards based summary : Immunodeficiency 50, is also known as immunodeficiency 50, x-linked recessive. 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 : 75 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

Symptoms & Phenotypes for Immunodeficiency 50

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 50:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 decreased antibody level in blood 32 HP:0004313
3 lymphopenia 32 HP:0001888
4 eczema 32 HP:0000964
5 recurrent urinary tract infections 32 HP:0000010

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:

41
T Cells, B Cells, Nk Cells

Publications for Immunodeficiency 50

Variations for Immunodeficiency 50

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

75
# Symbol AA change Variation ID SNP ID
1 MSN p.Arg171Trp VAR_078026 rs1057519074Immunodeficiency

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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