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Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient
Author(s) -
Tsuge Ikuya,
Ito Komei,
Ohye Tamae,
Kando Naoyuki,
Kondo Yasuto,
Nakajima Yoichi,
Inuo Chisato,
Kurahashi Hiroki,
Urisu Atsuo
Publication year - 2014
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.22814
Subject(s) - medicine , cytokinesis , pneumonia , immunology , biology , genetics , cell , cell division
Summary Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive type of combined immunodeficiency with elevated IgE. In this report, we describe a Japanese girl of non‐consanguineous family suffering from acute eosinophilic pneumonia (AEP) as a presenting feature of DOCK8 deficiency. Although AEP was self‐limiting, consecutively experienced recurrent respiratory infections, severe atopic dermatitis, and vulnerability to viral infections, prompted us to evaluate the possibility of DOCK8 deficiency. Immunological assessments demonstrated decreased IgM, increased IgE, T lymphocytepenia, especially in CD4 T cells, decreased PHA blastogenesis, and decreased CD27 + CD19 + memory B cells. Western blotting revealed the absence of DOCK8 protein. Investigation of genomic DNA by multiplex ligation‐dependent probe amplification (MLPA) revealed a heterozygous large deletion of 77 kb spanning from intron 5 to exon 22. DOCK8 cDNA sequencing revealed a nonsense mutation at position 740 (E740X). As far as we know, this is the first Japanese case of DOCK8 deficiency. Pediatr Pulmonol. 2014; 49:E52–E55. © 2013 Wiley Periodicals, Inc.