Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
X-linked recessive
Xq21.1
XMEN is an X-linked recessive immunodeficiency characterized by CD4 ({186940}) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300853.1 | United Arab Emirates | Female | Yes | No | Intellectual disability; Recurrent infec... Intellectual disability; Recurrent infections; Constipation; Increased susceptibility to fractures; Abnormal facial shape  | NC_000023.11:g.76992100_77014098dup | Heterozygous | X-linked, Dominant | Alabdullatif et al. 2017 | Father has recurrent... |