The lung interfaces with the environment across a continuous epithelium composed of
various cell types along the proximal and distal airways. At the alveolar structure level, the …

Abstract Aim Familial Mediterranean Fever (FMF) is the most common recurrent
autoinflammatory fever syndrome. Still, many issues—eg: colchicine dosage adjustment …

Inflammasomes are intracellular multiprotein signaling complexes, mainly present in
myeloid cells. They commonly assemble around a cytoplasmic receptor of the nucleotide …

Primary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin,
usually inherited as an autosomal recessive trait. Its phenotype is characterized by …

The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a
family of synthetic molecules endowed with GH release properties. As shown recently …

Combined pituitary hormone deficiency (CPHD) has been linked with rare abnormalities in
genes encoding transcription factors necessary for pituitary development 1. We have …

Background Given the phenotypic similarities between rheumatoid arthritis (RA)–associated
interstitial lung disease (ILD)(hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we …

Laron dwarfism is associated with resistance to growth hormone (GH). To investigate its
genetic basis, we used genetic linkage to test whether the disorder results from a defect in …

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent
infections of the upper and lower respiratory tract, reduced fertility in males and situs …

Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in
patients of Armenian ancestry. To date, its diagnosis, which can be made only …