Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
12q24.31
Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612782.1.1 | United Arab Emirates | Male | Yes | Yes | History of congenital CMV infection; Hyp... History of congenital CMV infection; Hypotonia; History of bone marrow transplant  | NM_032790.3:c.493dup | Homozygous | Autosomal, Recessive | Chou et al. 2015 | The patient also had... |
| 612782.1.2 | United Arab Emirates | Female | Yes | Yes | Hypotonia; Recurrent infections; History... Hypotonia; Recurrent infections; History of bone marrow transplant | NM_032790.3:c.493dup | Homozygous | Autosomal, Recessive | Chou et al. 2015 | Sister of 612782.1.1 |