A Case of DOCK8 Deficient Hyper-IgE Syndrome Presenting Primarily With Eczema, Food Allergy, and Asthma

Cavkaytar O., ÇAĞDAŞ AYVAZ D. N., Keskin O., Yilmaz E. A., Buyuktiryaki B., ŞAHİNER Ü. M., ...More

PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, vol.26, no.1, pp.48-51, 2013 (SCI-Expanded) identifier identifier


Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare and recently described immunodeficiency, which is characterized with cutaneous viral and sinopulmonary infections, eczema, and high IgE levels. A DOCK8 deficient patient who had been followed up for severe atopic dermatitis, multiple food allergies, and asthma for several years is reported and clues are given for the diagnosis of DOCK8 deficiency. A 7-year-old girl was referred due to refractory eosinophilia and eczema. She had angioedema of the lips and increase in eczematous lesions during infancy after milk and egg ingestion and during childhood after fish, hazelnut, and wheat-containing food ingestion. She had episodic wheezing attacks since she was 1-year-old, and she had recurrent pneumonia and acute otitis media in the following years. She was hospitalized for pyoderma after a zona zoster infection. Laboratory findings suggested DOCK8 deficiency and mutational analysis verified. She had stem cell transplantation from a matched unrelated donor but unfortunately she died due to pneumonia 3 months after transplantation. Even though infants have food allergy and recurrent wheezing attacks, the presence of refractory eczema should be carefully followed up by pediatricians for the presence of recurrent cutaneous infections to exclude the diagnosis of DOCK8 deficiency in which stem cell transplantation is the only option and must be done as soon as possible.