CASE HISTORY

A 37 year old white South African woman presented with a two week history of fevers, rigors, and watery diarrhoea up to six times a day.

She had a complex past medical history, developing insulin dependent diabetes mellitus aged 2 years and hypothyroidism aged 11 years. At 13 years she was diagnosed with idiopathic thrombocytopenic purpura (ITP) and two years later underwent splenectomy, with a partial response. At 25 years, she developed haemolytic anaemia. Initial treatment with azathioprine was withdrawn owing to thrombocytopenia and she was subsequently treated for three years with oral cyclophosphamide. On moving to the United Kingdom, treatment was changed to a combination of danazol, hydroxychloroquine, and 10–30 mg oral prednisolone a day.

At the age of 33 she was diagnosed with primary antibody deficiency on the basis of recurrent pneumonia, autoimmune disease, borderline low and falling total IgG, low IgG2 subclass, and failure to produce a specific IgG response to tetanus and pneumovax immunisations. Intravenous immunoglobulin replacement treatment was started

In the six years before the above presentation she had also described intermittent watery diarrhoea, controlled with loperamide and on several occasions remitted when the steroid dose for ITP was increased. Stool culture and parasitology, abdominal ultrasound scan, gastroscopy and duodenal biopsy, flexible sigmoidoscopy, barium meal and follow through, and barium enema were all normal. Biopsies of the rectum and sigmoid colon showed a chronic inflammatory cell infiltrate compatible with immunodeficiency.

Other problems included hypoadrenalism attributed to either prolonged steroid use or autoimmune disease, and …