Inborn Errors of Immunity and Hematopoietic Cell Transplantation: Recognition and Pretransplant Management.
This review describes recognition, diagnostic evaluation, supportive care, and pretransplant management of children with inborn errors of immunity who may be candidates for allogeneic hematopoietic cell transplantation.
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This review describes recognition, diagnostic evaluation, supportive care, and pretransplant management of children with inborn errors of immunity who may be candidates for allogeneic hematopoietic cell transplantation.
Research significance
The supplied record states that early diagnosis, infection-risk reduction, and assessment of disease biology, organ function, donor availability, conditioning toxicity, and graft-versus-host disease risk are important before HCT; it is reasonable but unproven from this record to hypothesize that systematic pretransplant optimization could reduce complications and improve outcomes, including in children with malignancy-associated IEI.
Source abstract
Primary immunodeficiencies, now more broadly termed as "inborn errors of immunity (IEI)," are rare genetic disorders associated with recurrent infections, immune dysregulation, autoimmunity, lymphoproliferation, and malignancy risk. Early recognition and diagnosis are essential to reduce infection-related morbidity, prevent organ damage, and identify children who may benefit from curative therapy. A comprehensive history, physical examination, targeted immune evaluation, and genetic testing can support diagnosis, while early supportive measures may reduce infection risk before definitive therapy. Treatment may include antimicrobial prophylaxis, immunoglobulin replacement, enzyme replacement, immune-modifying agents, gene-based therapies, and allogeneic hematopoietic cell transplantation (HCT), which can be curative for select IEI. However, HCT requires careful pretransplant evaluation, as outcomes are influenced by disease biology, infection burden, organ function, donor availability, graft-versus-host disease risk, and conditioning toxicity. This review focuses on recognition of IEI, initial evaluation, supportive care, and pre-HCT management for pediatricians.