The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of
immune responses, and its loss causes fatal autoimmunity in mice. We studied a large family …

Patient registries are instrumental for clinical research in rare diseases. They help to achieve
a sufficient sample size for epidemiological and clinical research and to assess the …

Background Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator.
Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation …

X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the
gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations …

Background LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency caused by biallelic mutations in LRBA that abolish LRBA protein …

The adaptors DOCK8 and MyD88 have been linked to serological memory. Here we report
that DOCK8-deficient patients had impaired antibody responses and considerably fewer …

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

Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high
morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell …

Background In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-
of-function (GOF) mutations were first described to cause a novel multisystem disease of …

Abstract Background/Aims: Type 1 diabetes (T1DM) is associated with autoimmune thyroid,
celiac, autoimmune gastric and Addison's disease. Our aim was to investigate the …