Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient

Ikuya Tsuge, Komei Ito, Tamae Ohye, Naoyuki Kando, Yasuto Kondo, Yoichi Nakajima, Chisato Inuo, Hiroki Kurahashi, Atsuo Urisu

研究成果: Article

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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.

元の言語English
ジャーナルPediatric Pulmonology
49
発行部数3
DOI
出版物ステータスPublished - 01-03-2014

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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