Progressive immunodeficiency in a patient with IgA deficiency.

Abstract

HISTORY OF PRESENT ILLNESS A 31-year-old white woman with a history of IgA deficiency and deletion of the long arm of chromosome 18 was referred to the Allergy-Immunology Clinic for evaluation of recent onset pruritic, erythematous papular lesions over her chest and antecubital fossae. These had developed several months prior to our evaluation and were accompanied by a lesion on her hard palate, which had been biopsied and reportedly showed invasive hyphal forms consistent with Candida albicans. An additional dermatologic manifestation included progressive vitiligo since childhood. Recent symptoms also included a 7-month history of dysphagia. This began as dysphagia for liquids but evolved to include solids as well as medications. It was accompanied by retrosternal chest discomfort. She had lost 22 pounds. There was no recent history of nausea, vomiting, or diarrhea. Respiratory symptoms included intermittent dyspnea that would subside without treatment. She also complained of chronic sore throat and postnasal drainage that were being treated with amoxicillin and intranasal fluticasone. There was no history of recurrent pneumonia. Her past medical history was significant for IgA deficiency and deletion of the long arm of chromosome 18.1 She had experienced frequent respiratory infections until age 18 months and recurrent urinary tract infections that were associated with bilateral reflux and hypotonic bladder. The frequency of bladder infections decreased after bilateral ureteral implantations. An initial immunologic evaluation at age 4 years in 1969 revealed an undetectable IgA level, IgM 155 mg/dL (normal range 50 18), and IgG 1000 mg/dL (normal range 929 228). Delayed type hypersensitivity was normal (Table 1). Her serum contained hemagglutinating antibodies for diphtheria and tetanus and a Schick test was negative (no erythema at the site of toxin injection). In 1972, at age 7 years, she had idiopathic thrombocytopenia which was treated with corticosteroids and platelet transfusions. At approximately age 20 years, she developed diarrhea which persisted for several years. An exhaustive laboratory evaluation revealed Giardia lamblia in the stool and treatment with appropriate antibiotics resulted in the resolution of these symptoms. Her family history was significant in that immunoglobulin evaluation of both parents and a sibling were normal. Chromosomal analysis of both parents was also normal. Social history was negative for tobacco, ethanol, and intravenous drug abuse. There was, however, possible sexual contact with an intravenous drug user. The physical examination revealed a slender woman with a flat face and closely approximated features. Her pulse rate, blood pressure, and temperature were normal. Examination of the head and neck revealed tortuous external auditory canals, purulent nasal and postnasal drainage, severe gingivitis, and patchy candidiasis of the buccal mucosa. There was a 3 3-cm granulomatous-appearing nontender mass on the hard palate. There was no hepatosplenomegaly or palpable lymphadenopathy. Examination of the extremities revealed no cyanosis, clubbing, or edema. There was no evidence of active or past fungal infection of the nails. Skin examination was remarkable for vitiligo of the arms and chest and multiple 2 3 to 3 5 mm erythematous papules in the antecubital fossae and on the chest. The skin lesions were not tender and none of them was pustular. The surface of each lesion was somewhat scaly. Deep tendon reflexes were normal. A pelvic examination was not done. The remainder of the physical examination was normal. Current medications included topical nystatin, intranasal fluticasone, and amoxicillin. She had not used a systemic antifungal drug.