NFKB2 mutation defined as common variable immunodeficiency type 10. Our aim is to draw attention to NFKB2 mutation could be a combined immunodeficiency.
A next-generation sequencing of 200 genes associated with primary immunodeficiency identified a heterozygous mutation NFKB2.
The patient is 13-year-old female who presented cough, recurrent infections at 6-year-old. In her medical history, she had recurrent respiratory tract infections and failure to thrive since 1-year-old, her all nails were atrophic and breaking since 3-year-old. Her hairs were totally loss, and she had psoriasiform eruptions, possibly due to severe autoimmunity. Hypoglycemia was detected when the patient was admitted with seizures, at the age of 10-year-old. Endocrinological evaluation revealed a central hypothyroidism. Her mother died due to T cell lymphoma. She had recurrent respiratory tract infections and bronchiectasis in her history.
This case and her mother suggest that NFKB2 mutations should be accepted as combined immunodeficiency.