Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency

Autor: Takahiro Yasumi, Ryuta Nishikomori, M Ito, Toshio Heike, Kazushi Izawa, Tomoki Kawai, Yoji Sasahara, M Nambu, Hiroshi Nihira, Kenji Kabashima, Takashi Nomura, Aya Miyagawa-Hayashino, Kenji Nakagawa, M Nakayama, S Iwaki-Egawa
Rok vydání: 2017
Předmět:
Zdroj: Scandinavian Journal of Rheumatology. 47:170-172
ISSN: 1502-7732
0300-9742
DOI: 10.1080/03009742.2017.1324912
Popis: Deficiency of adenosine deaminase type 2 (DADA2), caused by bi-allelic loss-of-function mutations in CECR1 (cat eye syndrome chromosome region, candidate 1) followed by a decrease in adenosine deam...
Databáze: OpenAIRE