The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect
different components of the innate and adaptive responses. The number of distinct genetic …

Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid
dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease …

The purpose of this study was to characterize a large group of infants with complete
DiGeorge anomaly and to evaluate the ability of thymus transplantation to reconstitute …

The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …

Its high population prevalence, estimated to be as common as 1: 2000 has sparked a large
amount of research, as has the model the syndrome serves for identifying the causes of …

Thymus transplantation is a promising investigational therapy for infants born with no
thymus. Because of the athymia, these infants lack T cell development and have a severe …

The commonest association of thymic stromal deficiency resulting in T-cell
immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal …

Chromosome 22q11 deletion is the most common chromosomal deletion syndrome and is
found in the majority of patients with DiGeorge syndrome and velo-cardio-facial syndrome …

Autoimmune thyroid diseases (AITDs), including Hashimoto's thyroiditis (HT) and Graves'
disease (GD), are the most common cause of acquired thyroid disorder during childhood …

Abstract 22q11. 2 deletion syndrome is the commonest chromosome deletion syndrome.
22q11. 2 deletion may result in variable clinical phenotypes which may differ even between …