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

Clinical Characteristics of Enterocolitis Associated with Inborn Errors of Immunitiy

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．

　Enterocolitis associated with inborn errors of immunity is a known cause of pediatric-onset IBD（inflammatory bowel disease）. Recent advancements in genetics have revealed numerous hereditary diseases that may result in IBD-like phenotypes ; they are known as “monogenic IBD” or “Mendelian disease-associated IBD.” Immunosuppressive therapy for IBD may result in serious infection. However hematopoietic stem cell transplantation may be a treatment of choice for some monogenic IBDs. Therefore, prompt diagnosis of monogenic IBDs is crucial for appropriate treatment and management. In this chapter, we discuss enterocolitis associated with inborn errors of immunity and present some cases experienced at our hospital.