A rare genetic immune disease characterised by early onset of recurrent bacterial, viral and fungal infections, chronic inflammatory bowel disease, gastritis and inflammatory polyarthritis. Patients present with diarrhoea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinaemia. [from
SNOMEDCT_US]