In the last years, advances in molecular genetics and immunology have resulted in the
identification of a growing number of genes causing primary immunodeficiencies (PIDs) in …

Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …

Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …

Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …

As the primary site of T‐cell development, the thymus plays a key role in the generation of a
strong yet self‐tolerant adaptive immune response, essential in the face of the potential …

CHARGE syndrome: A review - Hsu - 2014 - Journal of Paediatrics and Child Health - Wiley
Online Library Skip to Article Content Skip to Article Information Wiley Online Library Wiley …

Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

Current practices vary widely regarding the immunological work-up and management of
patients affected with defects in thymic development (DTD), which include chromosome …

Development of the field of organ and tissue transplantation has accelerated remarkably
since the human MHC was discovered in 1967. Matching of donor and recipient for MHC …

Background Thymus transplantation is a promising strategy for the treatment of athymic
complete DiGeorge syndrome (cDGS). Methods Twelve patients with cDGS underwent …