Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a monogenic disorder characterized by early onset fatal multi-system …

(1) Background: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked)
syndrome characterizes a complex autoimmune reaction beginning in the perinatal period …

The transcription factor BCL11B is essential for development of the nervous and the immune
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …

Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in …

Interleukin-2, which conveys essential signals for immunity, operates through a
heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R) β chain …

Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 …

MN1 encodes a transcriptional co-regulator without homology to other proteins, previously
implicated in acute myeloid leukaemia and development of the palate. Large deletions …

Echogenic fetal bowel (EB) is a prenatal ultrasound finding (0.2%–1.4% of all pregnancies)
defined as bowel of similar or greater echogenicity than surrounding bone. In fact, the …

Regulatory T (Treg) cells, a subtype of immunosuppressive CD4+ T cells, are vital for
maintaining immune homeostasis in healthy people. Forkhead box protein P3 (FOXP3), a …

ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated
with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 …