Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases

Translated title of the contribution: Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Translated title of the contributionTreating inherited bone marrow failure syndromes and primary immunodeficiency diseases
Original languageJapanese
Pages (from-to)1327-1333
Number of pages7
Journal[Rinsho ketsueki] The Japanese journal of clinical hematology
Volume62
Issue number8
DOIs
Publication statusPublished - 2021

Fingerprint

Dive into the research topics of 'Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases'. Together they form a unique fingerprint.

Cite this