The study of primary immunodeficiencies (PIDs) has largely been based on animal models, in-vitro assays, and the study of patient-derived tissue. Although very important, these approaches carry significant limitations including limited access to disease-specific tissue. Here, we focus on a novel approach based on the use of patient-derived induced pluripotent stem cells (iPSCs) that may overcome some of the inherent limitations of the classical approaches to the study of PIDs.
Recent advances have paved the way to disease modeling by iPSCs in many fields including the study of PIDs. However, significant challenges in the use of iPSCs for disease modeling and cell therapy still remain to be addressed before translational application of this technology is attempted.
The study of patient-derived iPSCs promises to have significant impact on the characterization of the pathophysiology of PIDs and on the development of novel forms of treatment for these disorders. In particular, this technology may permit to study in much greater detail the mechanisms of disease that involve extra-immune tissues, with minimal risk or discomfort to the patient and without the need for complex genetic manipulation.
aDepartment of Pediatric Critical Care, Edmond and Lily Safra Children's Hospital, Sheba Medical Center
bThe Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel
cDivision of Immunology, Children's Hospital, Harvard Medical School
dThe Manton Center for Orphan Disease Research, Children's Hospital, Boston, Massachusetts, USA
Correspondence to Itai M. Pessach, MD, PhD, Department of Pediatric Critical Care, Edmond and Lily Safra Children's Hospital, Tel-Hashomer 52621, Israel E-mail: Itai.Pessach@sheba.health.gov.il