胃と腸54巻13号

2019年12月発行

今月の主題 遺伝子・免疫異常に伴う消化管病変—最新のトピックスを中心に 主題

Inborn errors of immunityに起因する消化管病変の臨床的特徴

著者： 竹内一朗¹ 新井勝大¹

所属機関： ¹国立成育医療研究センター消化器科・小児炎症性腸疾患（IBD）センター

ページ範囲：P.1692 - P.1701

要旨●小児の炎症性腸疾患（IBD），特に6歳未満に発症する超早期発症型炎症性腸疾患では，原発性免疫不全症や自己炎症性疾患（総称してinborn errors of immunity）に伴う腸炎の存在が以前から指摘されていた．近年の遺伝学の発展に伴い，腸炎を発症する遺伝病が次々と明らかになり，“monogenic IBD”や“Mendelian disease-associated IBD”と呼ばれている．この中には，標準的なIBD治療が重篤な感染症を引き起こす疾患や，造血幹細胞移植が有効である疾患が含まれるため，確実に診断することが求められる．本稿では，当院で診療しているinborn errors of immunity患者の消化管病変を，疾患の概要とともに解説する．

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