MCID: IMM173
MIFTS: 11

Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein

Categories: Immune diseases

Aliases & Classifications for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

MalaCards integrated aliases for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein:

Name: Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein 56 71
Gpl115 Deficiency 56

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 56 308220
MedGen 41 C1839982
SNOMED-CT via HPO 68 263934009 428875002
UMLS 71 C1839982

Summaries for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

MalaCards based summary : Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein, is also known as gpl115 deficiency. Affiliated tissues include t cells, and related phenotypes are recurrent bacterial infections and recurrent viral infections

More information from OMIM: 308220

Related Diseases for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Symptoms & Phenotypes for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Human phenotypes related to Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein:

31
# Description HPO Frequency HPO Source Accession
1 recurrent bacterial infections 31 HP:0002718
2 recurrent viral infections 31 HP:0004429
3 abnormality of t cell physiology 31 HP:0011840
4 recurrent protozoan infections 31 HP:0005386

Symptoms via clinical synopsis from OMIM:

56
Immunology:
primary t-lymphocyte immune abnormalities

Lab:
deficiency of 115,000-dalton lymphocyte membrane glycoprotein
reduced lymphocyte volume
circulating immature t-cells

Misc:
severe viral, protozoan, and bacterial infections

Clinical features from OMIM:

308220

Drugs & Therapeutics for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein

Genetic Tests for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Anatomical Context for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

MalaCards organs/tissues related to Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein:

40
T Cells

Publications for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Articles related to Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein:

# Title Authors PMID Year
1
Immune abnormalities in patients lacking a lymphocyte surface glycoprotein. 56
6499285 1984
2
Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome. 56
6547160 1984

Variations for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Expression for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Search GEO for disease gene expression data for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein.

Pathways for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

GO Terms for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

Sources for Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton...

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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