Hematopoietic Stem Cell Transplantation for Primary Immunodeficiencies

Abstract

Allogeneic Hematopoietic Stem Cell Transplantation has been shown to be curative for well described as well as newly discovered immunodeficiencies. However it is difficulty to define a universal transplant regimen given the rarity of these disorders and the varied pathophysiology these disorders encompass. This review will discuss those primary immunodeficiencies most commonly treated by hematopoietic stem cell transplant and describe the transplant issues specific to these disorders.

Haematopoietic stem cell transplantation for inborn errors of immunity: 25‐year experience from University of Malaya Medical Centre, Malaysia

“…Conditioning regimens for IEI have largely been non‐uniform due to the vast range and heterogeneity of the conditions. Within SCID, the role of conditioning is still undetermined, and factors that influence decision include presence of infection, molecular diagnosis, type of donor, likelihood of immune reconstitution and short‐ and long‐term side effects . RIC has been shown to improve early outcome, and reduce long‐term toxicity in patients with SCID .…”

“…Within SCID, the role of conditioning is still undetermined, and factors that influence decision include presence of infection, molecular diagnosis, type of donor, likelihood of immune reconstitution and short-and long-term side effects. [4][5][6] RIC has been shown to improve early outcome, and reduce long-term toxicity in patients with SCID. 12 However, patients who received conditioning demonstrate more durable thymopoiesis, improved T and B cell reconstitution, and are more likely to be immunoglobulin-free than unconditioned patients.…”

“…Conventional PIDs are typically rare, monogenic, recessive Mendelian disorders that directly affect leukocytes and confer susceptibility to a broad range of infectious diseases . They are clinically and genetically heterogenous, and are classified by immunological phenotype and mode of inheritance . To date, over 200 distinct immunodeficiency conditions have been identified, and the commonest of these is severe combined immunodeficiency (SCID).…”

Skin signs of primary immunodeficiencies: how to find the genes to check

“…According to the prevalent X‐chromosomal recessive trait, male patients are affected more often . An early diagnosis is crucial for genetic counselling for families, and more importantly in order to start life‐saving therapies – substitution of antibodies, allogeneic stem cells, haematopoietic stem cells or gene therapy . Generally, PIDs should be suspected in patients with the clinical signs given in Table …”

“…A mutation in RMRP (endoribonuclease RNase MRP) participates in cleavage of mitochondrial primers responsible for DNA replication and on pre‐rRNA processing in the nucleolus. The cellular immunodeficiency leads to moderate lymphopenia and decreased delayed‐type hypersensitivity . Patients are short limbed (dwarfism) due to skeletal dysplasia, especially over the joints, and show excessive skin, similarly to cutis laxa but without a defect in the elastic fibres.…”