Dedicator of cytokinesis 8 deficiency and hyperimmunoglobulin E syndrome: A case report

RATIONALE: Hyperimmunoglobulin E syndrome (HIES) is a rare and complex immunoregulatory multisystem disorder characterized by recurrent eczema, skin and sinopulmonary infections, elevated serum immunoglobulin E levels, and eosinophilia. Onset is most likely in childhood, although infrequent adult cases have been reported. Early diagnosis is important. The use of the National Institutes of Health scoring system and the HIES signal transducer and activation of transcription 3 score can standardize the diagnosis of HIES. PATIENT CONCERNS: A 19-year-old woman presented with complaints of dry cough, pyrexia, dyspnea, and recurrent pneumonia. She had a history of milk allergy, recurrent eczema, suppurative otitis media, chalazia, and aphthous ulcers. Her parents had a consanguineous marriage. DIAGNOSIS: HIES; severe pneumonia. INTERVENTIONS: Voriconazole (200 mg iv 2 times/d) and flucytosine (1 g orally 4 times/d) for 3 weeks were administered, followed by oral administration of fluconazole for 3 weeks. OUTCOMES: The patient experienced near-complete remission of her respiratory symptoms. The patient was followed-up for one and a half years. During the follow-up, the patient presented again with cough and dyspnea and was again admitted to hospital. After being hospitalized for 3 weeks of antibiotic treatment, the patient experienced near-complete relief of her respiratory symptoms. LESSONS: Regardless of patient age, it is important to consider the possibility of HIES when a patient has recurrent eczema, skin and sinopulmonary infections, elevated serum immunoglobulin E levels, and eosinophilia. Early diagnosis and intervention are essential to improve prognosis.