Publications Search

Search for publications by author
Search for publications by abstract keyword(s)

Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity


Hematopoietic stem cells (HSCs) are the progenitor cells that give rise to the diverse repertoire of all immune cells. As they differentiate, HSCs yield a series of cell states that undergo gradual commitment to become mature blood cells. Studies of hematopoiesis in murine models have provided critical insights about the lineage relationships among stem cells, progenitors, and mature cells, and these have guided investigations of the molecular basis for these distinct developmental stages. Primary immune deficiencies are caused by inborn errors of immunity that result in immune dysfunction and subsequent susceptibility to severe and recurrent infection(s). Over the last decade there has been a dramatic increase in the number and depth of the molecular, cellular, and clinical characterization of such genetically defined causes of immune dysfunction. Patients harboring inborn errors of immunity thus represent a unique resource to improve our understanding of the multilayered and complex mechanisms underlying lymphocyte development in humans. These breakthrough discoveries not only enable significant advances in the diagnosis of such rare and complex conditions but also provide substantial improvement in the development of personalized treatments. Here, we will discuss the clinical, cellular, and molecular phenotypes, and treatments of selected inborn errors of immunity that impede, either intrinsically or extrinsically, the development of B- or T-cells at different stages.

Type Journal
Authors Della Mina, E., Guerin, A., Tangye, S. G.
Responsible Garvan Author Prof Stuart Tangye
Publisher Name STEM CELLS
Published Date 2021-04-30
Published Volume 39
Published Issue 4
Published Pages 389-402
Status Published in-print
DOI 10.1002/stem.3327
URL link to publisher's version