Hyper-IgE syndrome, or not

Abstract

Rationale The underlying immunodeficiency of the hyper-IgE syndrome is unclear and patients characterized as having this disorder may have a different immunodeficiency disease altogether. We present a patient with many of the classic clinical characteristics of hyper-IgE syndrome but an immunologic profile that differs from previously reported cases. Methods The patient is a 34 year old male diagnosed with hyper-IgE syndrome as a child based on his clinical presentation of recurrent Staphylococcus aureus soft tissue and pulmonary infections with resultant pneumatocele formation, eczematoid dermatitis, characteristic facial features, and elevated IgE level (10,000 IU/mL). Radiologic studies and laboratory immunologic profile were obtained on referral as an adult. Results White blood cell count and differential were normal but flow cytometry revealed a moderate B lymphopenia. Mitogen studies showed a normal proliferation response. Candida skin test was positive. Serum immunoglobulin levels were normal except for an elevated IgE of 1461, and anti-pneumococcal and anti-tetanus toxoid antibody titers were at a normal (protective) post-vaccination concentration. Immune response to the neoantigen bacteriophage phi X174 showed an adequate primary antibody response in the first week followed by a sharp decrease in the following three weeks; secondary antibody response was also poor with a relatively low percentage of IgG. Chest CT revealed cystic bronchiectasis. Conclusions This patients immunologic profile and finding of bronchiectasis are distinctly uncharacteristic of hyper-IgE syndrome. The diagnosis of hyper IgE syndrome may be better made after adequate response to Bacteriophage challenge.