Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases

Masataka Ishimura, Katsuhhide Eguchi, Motoshi Sonoda, Akira Shiraishi, Shouichi Ohga

研究成果: Contribution to journalArticle査読

抄録

Inherited bone marrow failure syndromes (IBMFS) are caused by genetic mutations at loci associated with DNA repair, telomere maintenance, and ribosome function. Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion-dependent patients if reduced-intensity conditioning and long-term screening for relapse can be successfully implemented. Primary immunodeficiency diseases (PIDs) arise from inborn errors of the host immune system and affected patients must protect themselves against intractable infections and immune system dysregulation. HSCT is curative in many pediatric patients; however, specific immunomodulatory therapies are now available for controlling autoimmune and/or autoinflammatory diseases. Advanced clinical sequencing technologies have continued to identify novel monogenic diseases that share the phenotype of hematological and immunological abnormalities, along with adult cases of IBMFS and/or PIDs. Importantly, genetic counseling is required for carrier detection while selecting sibling donors for HSCT. Here, we describe treatment strategies for IBMFS and/or PIDs and associated pitfalls.

寄稿の翻訳タイトルTreating inherited bone marrow failure syndromes and primary immunodeficiency diseases
本文言語日本語
ページ(範囲)1327-1333
ページ数7
ジャーナル[Rinsho ketsueki] The Japanese journal of clinical hematology
62
8
DOI
出版ステータス出版済み - 2021

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