Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …

In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …

Background Inborn errors of immunity have been implicated in causing immune
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …

Background Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-
4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals …

Background Recent findings strongly support hematopoietic stem cell transplantation
(HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein …

It is important to recognize the broad clinical manifestations of PIRD as patients may have
symptoms atypical of classical 'immunodeficiency'. Because of their diverse immune …

Primary immune regulatory disorders (PIRD) are associated with autoimmunity,
autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune …

Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and
lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly …

During the last years, studies investigating the intriguing association between
immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the …

Background LPS-responsive beige-like anchor (LRBA) deficiency (LRBA–/–) and cytotoxic T-
lymphocyte–associated antigen-4 (CTLA4) insufficiency (CTLA4+/–) are mechanistically …