X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: XMEN
Combined immunodeficiency due to MAGT1 deficiency
CID due to MAGT1 deficiency
Number of Symptoms 6
OrphanetNr: 317476
OMIM Id: 300853
ICD-10: D81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0002665) Lymphoma 21796205 IBIS 60 / 7739
2
 (HPO:0005419) Decreased T cell activation 21796205 IBIS 4 / 7739
3
 (HPO:0005407) Decreased number of CD4+ T cells 21796205 IBIS 6 / 7739
4
 (HPO:0004429) Recurrent viral infections 21796205 IBIS 20 / 7739
5
 (HPO:0002721) Immunodeficiency 97 / 7739
6
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) XMEN is an X-linked immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011).
Clinical Description OMIM Li et al. (2011) examined 2 brothers, aged 7 and 3 years, with recurrent infections, including chronic Epstein-Barr virus infections, and low CD4 T-cell counts. Both patients had an inverted CD4:CD8 (see 186910) ratio and reduced CD31 (PECAM1; ...
Molecular genetics OMIM In the 2 brothers with XMEN that they reported, Li et al. (2011) identified a 10-bp deletion in the MAGT1 gene (300715.0002) that removed a splice donor site located in the 3-prime exon-intron junction of exon 7. The ...