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Hematopoietic cell transplantation for primary immunodeficiency

Author
Francisco A Bonilla, MD, PhD
Section Editor
Jennifer M Puck, MD
Deputy Editor
Elizabeth TePas, MD, MS

INTRODUCTION

The predominant clinical consequence of primary immunodeficiency is an increased frequency and severity of infection. The molecular pathophysiologies of many of the disorders underlying primary immunodeficiency are defined. A number of medical therapies have provided dramatic improvements in life expectancy and quality of life for immunodeficient patients. Hematopoietic cell transplantation (HCT) is clearly indicated for severe immunodeficiencies (eg, severe combined immunodeficiency [SCID]) that are lethal in the first few years of life. However, improvements in HCT have led to better outcomes and should prompt serious consideration of HCT for patients with a number of other immunodeficiency disorders associated with significant morbidity and shortened lifespan [1-5].

HCT is the only potentially curative nonexperimental therapy available for many primary immunodeficiencies, including various forms of SCID, several severe immunodeficiency syndromes (Wiskott-Aldrich syndrome, X-linked hyperimmunoglobulin M syndrome, chronic granulomatous disease, and nuclear factor-kappaB essential modulator [NEMO] deficiency), and diseases of immune dysregulation (IPEX [immune dysregulation, polyendocrinopathy, enteropathy, X-linked], familial hemophagocytic lymphohistiocytosis, Chediak-Higashi syndrome) [6]. These are only some examples of many disorders for which HCT should be considered.

This topic review will discuss the use of HCT in the treatment of severe primary immunodeficiency states. For several of these disorders, the role of HCT is discussed in more detail separately. (See "Severe combined immunodeficiency (SCID) with JAK3 deficiency", section on 'Treatment' and "Chronic granulomatous disease: Treatment and prognosis", section on 'Hematopoietic cell transplantation' and "IPEX: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked", section on 'Hematopoietic cell transplantation' and "Wiskott-Aldrich syndrome", section on 'Hematopoietic cell transplantation' and "T-B-NK+ SCID: Clinical manifestations, diagnosis, and treatment", section on 'Hematopoietic cell transplantation' and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis", section on 'Hematopoietic cell transplantation'.)

The general aspects of medical therapy for immunodeficiency, including therapy with immune globulin and other biologics and vaccination recommendations, are discussed separately, as is gene therapy. (See "Medical management of immunodeficiency" and "Gene therapy for primary immunodeficiency" and "Immune globulin therapy in primary immunodeficiency" and "Immunizations in hematopoietic cell transplant candidates and recipients".)

Information regarding therapeutic strategies specific to one or a few disorders are discussed in the appropriate topic reviews. (See "Severe combined immunodeficiency (SCID): An overview" and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis" and "Primary disorders of phagocytic function: An overview" and "Chediak-Higashi syndrome" and "Chronic granulomatous disease: Treatment and prognosis" and "Wiskott-Aldrich syndrome".)

                     

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Literature review current through: Nov 2016. | This topic last updated: Mon Nov 28 00:00:00 GMT+00:00 2016.
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