HSCT for Primary Immunodeficiencies and Rare Metabolic Diseases

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Andrew R Gennery

Newcastle University

Arjan C Lankester

Leiden University

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Primary immunodeficiencies are rare disorders affect all elements of the immune system, and present with recurrent, unusual or severe infections, autoimmunity, auto inflammation, allergy and malignancy. Most mutations confer loss of function, although increasingly diseases caused by gain of function mutations are described. For many diseases, haematopoietic stem cell transplantation is curative, although gene therapy is being developed for several diseases. Inherited metabolic diseases are rare disorders that collectively comprise a diverse and complex group of diseases due to defects in genes that code for proteins involved in metabolic pathways. HSCT is an option for specific metabolic diseases. The Inborn Errors Working Party of EBMT/ESID has pioneered investigation, management and treatment of these disorders, and experts from the field have been invited to cover specific areas.

This Golden Research Topic will provide a comprehensive overview of Haematopoietic Stem Cell Transplantation for Primary Immunodeficiencies and Metabolic Disorders, for an up to date review of the field, including approaches to stem cell transplantation or gene therapy, as well as issues relating to specific diseases and areas of management or complications.

Primary immunodeficiencies are rare disorders affect all elements of the immune system, and present with recurrent, unusual or severe infections, autoimmunity, auto inflammation, allergy and malignancy. Most mutations confer loss of function, although increasingly diseases caused by gain of function mutations are described. For many diseases, haematopoietic stem cell transplantation is curative, although gene therapy is being developed for several diseases. Inherited metabolic diseases are rare disorders that collectively comprise a diverse and complex group of diseases due to defects in genes that code for proteins involved in metabolic pathways. HSCT is an option for specific metabolic diseases. The Inborn Errors Working Party of EBMT/ESID has pioneered investigation, management and treatment of these disorders, and experts from the field have been invited to cover specific areas.

This Golden Research Topic will provide a comprehensive overview of Haematopoietic Stem Cell Transplantation for Primary Immunodeficiencies and Metabolic Disorders, for an up to date review of the field, including approaches to stem cell transplantation or gene therapy, as well as issues relating to specific diseases and areas of management or complications.

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Editors

Andrew R Gennery

Newcastle University

Arjan C Lankester

Leiden University

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Frontiers in Pediatrics

Pediatric Immunology

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