Immunodeficiency 66

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive combined immunodeficiency caused by mutation(s) in the MRTFA (MKL1) gene, encoding myocardin-related transcription factor A. It is characterized by neutropenia and recurrent bacterial infections in infancy.

**Synonyms:** - IMD66 - Immunodeficiency-66 - MKL1 Deficiency - Neutropenia with Combined Immune Deficiency