This is an extremely rare disorder, caused by mutations in the RAG1 gene.
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
11p12
This is an extremely rare disorder, caused by mutations in the RAG1 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609889.1.1 | Algeria | Male | Yes | Severe cytomegalovirus infection; Immun... Severe cytomegalovirus infection; Immunodeficiency;  | NM_000448.2:c.519delT | Homozygous | Autosomal, Recessive | de Villartay et al., 2005 | ||
| 609889.2.1 | Morocco | Female | Yes | Severe cytomegalovirus infection; Inter... Severe cytomegalovirus infection; Interstitial pneumonitis; Autoimmune neutropenia; Hemolytic anemia; ; | NM_000448.2:c.2942A>C | Homozygous | Autosomal, Recessive | de Villartay et al., 2005 | ||
| 609889.3.1 | Lebanon | Male | Yes | Autoimmune hemolytic anemia; Hepatosple... Autoimmune hemolytic anemia; Hepatosplenomegaly; Severe cytomegalovirus infection; Bronchiolitis ; ; ; | NM_000448.3:c.2521C>T | Homozygous | Autosomal, Recessive | de Villartay et al., 2005 |