Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect

**Semantic type:** Disease or Syndrome

**Definition:** A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene.

**Synonyms:** - IMD54 - Immunodeficiency 54 - Mini-chromosome Maintenance 4