Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alv...

b2-Glycoprotein I (b2-GPI), also known as apolipoprotein H, is a 50 kDa protein that was described for the first time in 1961, and in 1968 the first apparently healthy person was identified deficient in this protein. As no function could be attributed to b2-GPI, the protein did not receive much attention and on average a single publication per year appeared in the literature. From 1990 onwards,...

Autoinflammatory diseases area group of clinical conditions other than autoimmune diseases, characterized by recurrent inflammatory episodes. From apathogenetic point of view they are determined by a dys regulation of innate immunity, without involvement of specific immunity (auto reactive T cells and auto antibodies). Recently, the increased knowledge in the field of auto inflammation highligh...

BACKGROUND Auto-immune adrenal insufficiency is a potentially fatal disorder. Young women with spontaneous premature ovarian failure (POF) are at increased risk of developing this condition. METHODS We further characterized auto-immune adrenal insufficiency in this population by conducting an in-depth cross-sectional evaluation of adrenal function in a series of 123 women. RESULTS We uncove...

Pulmonary arterial hypertension (PAH) is a rare disease often resulting in right-sided heart failure and premature death [1]. PAH is idiopathic (IPAH), heritable, or related to conditions such as connective tissue diseases (CTD) [2]. IPAH prognosis remains poor despite improved patient survival with current treatment options. Therefore, elucidating the pathophysiology of IPAH is important for t...