The events regulating human preimplantation development are still largely unknown owing
to a scarcity of material, ethical and legal limitations and a lack of reliable techniques to …

Multisystem inflammatory syndrome associated with the SARS-CoV-2 pandemic has recently
been described in children (MIS-C), partially overlapping with Kawasaki disease (KD). We …

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary
immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor …

Objective Gain‐of‐function NLRP3 mutations cause cryopyrin‐associated periodic syndrome
(CAPS), with gene mosaicism playing a relevant role in the pathogenesis. This study was …

Introduction Autoinflammatory diseases (AID) are usually diagnosed during the pediatric
age. However, adult-onset disease or diagnosis during adulthood has been occasionally …

<p>Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic,
infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited …

Background Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The
3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms …

Hypophosphatasia (HPP) is the inborn error of metabolism that features low serum alkaline
phosphatase (ALP) activity caused by loss‐of‐function mutation(s) within the gene for the …

9. Ilmarinen-Salo P, Moilanen E, Kinnula VL, Kankaanranta H. Nitric oxide-induced eosinophil
apoptosis is dependent on mitochondrial permeability transition (mPT), JNK and oxidative …

Objective Blau syndrome is characterized by noncaseating granulomatous arthritis,
dermatitis, and uveitis, and results from gain‐of‐function NOD2 mutations. This study was …