Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency

Abstract

Severe combined immunodeficiency (SCID) is a heterogeneous group of congenital diseases characterized by their presentation with life threatening infections in the first months of life. The clinical presentation and the therapeutic outcome is influenced by multiple factors: the genetic defect, infectious complications, the presence of maternal T cells the development of Omenn syndrome, as well as non-immunological signs and symptoms of the disease. Hematopoietic stem cell transplantation (HSCT) to date is the only established curative option and allows long-term cure of the disease. Therapeutic objectives of HSCT in SCID clearly differ from those in malignant or hematological disease. Disease specific aspects and their influence on the therapeutic strategy in SCID will be discussed in this review.

Zusammenfassung

Der Begriff des Schweren Kombinierten Immundefektes (SCID) bezeichnet eine heterogene Gruppe angeborener Erkrankungen, die durchlebensbedrohliche Infektionen mit Beginn in den ersten Lebensmonaten gekennzeichnet sind. Die klinischen Manifestationen und die therapeutischen Ergebnisse werden durch eine Vielzahl sehr unterschiedlicher Faktoren be­einflusst: den genetischen Defekt, infektiöse Komplikationen, die Übertragung maternaler T-Zellen, die Ausbildung eines Omenn-Syndroms sowie nicht-immunologische Manifestationen der Erkrankung. Die Hämatopoetische Stamm­zelltransplantation (HSCT) ist die momentan einzige etablierte Therapie und ermöglicht eine dauerhafte Heilung der Erkrankung. Die therapeutischen Ziele der HSCT bei SCID unterscheiden sich deutlich von denen in der Behandlung hämatologischer oder malig­ner Erkrankungen. Krankheitsspezifische Aspekte und deren Einfluss auf die Therapie schwerer kombinierter Immundefekte werden in diesem Übersichtsartikel diskutiert.

Key words

SCID - transplantation - conditioning - matched donor - mismatched donor - T cell reconstitution

Schlüsselwörter

Schwerer Kombinierter Immundefekt - Transplantation - Konditionierung - identischer Spender - T-Zell Rekonstitution

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