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Stem Cell Transplantation for Primary Immunodeficiency

  • Juliana Silva
  • Claire Booth
  • Paul Veys
Chapter

Abstract

Primary immunodeficiency diseases (PID) are a group of heterogeneous inherited disorders affecting the development and function of the innate and acquired immune system. The disorders are characterized by increased susceptibility to recurrent and severe infections, autoimmunity and in some cases malignancies. Allogeneic haematopoietic stem cell transplant (HSCT), and in some cases gene therapy, is the only curative approach for many of these disorders. With the expanding field of molecular genetics, new immune disorders are being identified, but the role of HSCT or other therapy in these disorders remains to be determined. This chapter will review the current indications for HSCT in PID and will examine the specific challenges associated with HSCT in (1) severe combined immunodeficiency (SCID) where the landscape is changing due the introduction of newborn screening; (2) other combined immune deficiencies, some of which have only very recently been described; and (3) phagocytic and haemophagocytic cell disorders. The role of alternative therapies including gene therapy and thymic transplantation will also be discussed.

Keywords

Primary immunodeficiencies Haematopoietic stem cell transplant SCID Newborn screening Thymic transplant 

Abbreviations

ADA

Adenosine deaminase

APDS

Activated PI3Kδ syndrome

ATG

Anti-thymocyte globulin

CGD

Chronic granulomatous disease

CTLs

Cytotoxic T lymphocytes

DLI

Donor lymphocyte infusion

DOCK8

Dedicator of cytokinesis 8

EBV

Epstein-Barr virus

FHLH

Familial haemophagocytic lymphohistiocytosis

GvHD

Graft versus host disease

HLA

Human leukocyte antigen

HLH

Haemophagocytic lymphohistiocytosis

HSCT

Haematopoietic stem cell transplant

iC9-T

Inducible human caspase 9

LAD

Leukocyte adhesion deficiency type 1

MAC

Myeloablative conditioning

MHC class II

Major histocompatibility complex class II

MIC

Minimal intensity conditioning

MMFD

Mismatched family donor

MRD

Matched related donor

MSD

Matched sibling donor

mTOR

Mammalian target of rapamycin

MUD

Matched unrelated donor

NBS

Newborn screening

NKT

NK+ T cells

OS

Overall survival

PBSC

Peripheral blood stem cells

PEG-ADA

Polyethylene glycol-conjugated adenosine deaminase

PI3K

Phosphatidylinositol-3 kinase

PID

Primary immunodeficiency diseases

RIC

Reduced intensity conditioning

SCETIDE

Stem cell transplant for immunodeficiencies in Europe

SCID

Severe combined immunodeficiency

TCR

T-cell receptor

TRECs

T-cell receptor excision circles

TRM

Transplant-related mortality

UCBT

Umbilical cord blood stem cell transplantation

WAS

Wiskott-Aldrich syndrome

XIAP

X-linked inhibitor of apoptosis

XLP

X-linked lymphoproliferative disease

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Bone Marrow TransplantationGreat Ormond Street HospitalLondonUK
  2. 2.Department of Paediatric ImmunologyGreat Ormond Street HospitalLondonUK

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