This review summarises experimental evidence to illustrate that induction of immune reactivity
depends upon antigen reaching and being available in lymphoid organs in a dose‐ and …

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

… T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel
K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S: A prospective evaluation of …

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 …

Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described
combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene …

… Sequencing of DOCK8 cDNA in the proband ARH009 revealed skipping of exon 37 (Fig 4,
S). This deletion is predicted to result in an in-frame deletion of 53 amino acids. Although …

Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation
factor (MyD) 88 deficiencies impair Toll-like receptor (TLR)-and interleukin-1 receptor-…

… Indeed, studies of experimental infection models in knockout mice have indicated that defense
against S. pneumoniae and S. aureus may depend on IL-1R (64, 65), TLR2 (43, 66), and, …

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 …

… After addition of 800 μl of PBS containing 0.3% BSA, organs were subjected to two rounds
of mechanical treatment for 15 s each at 6.5 m/s, with 5 min of incubation on ice between the …