Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development
X Yu, JR Almeida, S Darko, M van der Burg… - Journal of allergy and …, 2014 - Elsevier
Background Human immunodeficiencies characterized by hypomorphic mutations in critical
developmental and signaling pathway genes allow for the dissection of the role of these
genes in the development of the T-cell receptor (TCR) repertoire and the correlation of
alterations of the TCR repertoire with diverse clinical phenotypes. Objective The presence of
T cells in patients with Omenn syndrome (OS) and patients with atypical presentations of
severe combined immunodeficiency gene mutations presents an opportunity to study the …
developmental and signaling pathway genes allow for the dissection of the role of these
genes in the development of the T-cell receptor (TCR) repertoire and the correlation of
alterations of the TCR repertoire with diverse clinical phenotypes. Objective The presence of
T cells in patients with Omenn syndrome (OS) and patients with atypical presentations of
severe combined immunodeficiency gene mutations presents an opportunity to study the …