title: Chronic granulomatous disease with markedly elevated IgE levels mimicking hyperimmunoglobulin E syndrome.
abstract: Patients with hyperimmunoglobulin E syndrome (HIES) and chronic granulomatous disease (CGD) have prominently increased immunoglobulin (Ig) E levels. We present a 9-year-old boy with medical history revealing recurrent pneumonia, suppurative lymphadenitis, diarrhea, and otitis. The patient was hospitalized with severe pneumonia. The examination showed tachypnea, crackles at the right and left base of the lung, freckles on his face, red-hair, gingivitis, a high arched palate, and retained primary dentition. Serum IgE level was markedly increased. Nevertheless, patient did not have STAT3 or DOCK8 mutation, characteristic of HIES. Neutrophil function test with dihydrorhodamine (DHR) showed X linked-CGD pattern and molecular analysis of DNAshowed a splice site mutation (c.338-1G > A) in CYBB gene. Herein, we present a case of CGD with selective IgA deficiency. Laboratory findings and elevated IgE mimic the features seen in HIES. Thus, CGD must be considered as a differential diagnosis in patients with elevated Ig E.
authors.affiliation: Erciyes University, Medical Faculty, Research Hospital, Department of Paediatrics, Division of Paediatric Immunology, 38039 Kayseré, Turkey.
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.forename: Hatice Eke
authors.initials: HE
authors.lastname: Gungor
authors.forename: Sandra
authors.initials: S
authors.lastname: Lazaroski
authors.forename: Ekrem
authors.initials: E
authors.lastname: Unal
mesh_terms: D002648:Child; D006105:Granulomatous Disease, Chronic / Q000097:blood* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood* / Q000276:immunology; D007589:Job Syndrome / Q000097:blood* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D008297:Male
chemical_list: D007073:Immunoglobulin E