Patients with autoinflammatory diseases present with noninfectious fever flares and systemic
and/or disease-specific organ inflammation. Their excessive proinflammatory cytokine and …

Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow
disorders defined by pathological iron accumulation in the mitochondria of erythroid …

Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis,
iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been …

Autoinflammation as a distinct disease category was first reported in 1999 as a group of
monogenic disorders characterized by recurrent episodes of systemic and organ-specific …

When first defined 50 years ago, sideroblastic anemia (SA) was already recognized to occur
in heterogeneous settings, including as familial or acquired disease. 1 The spectrum of SA …

Understanding causes of infant mortality shapes public health policy and prioritizes
diseases for investments in surveillance, intervention and medical research. Rapid genomic …

Autoinflammatory diseases are characterized by innate immunity abnormalities. In
autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis …

Bacterial respiratory tract infections are the hallmark of primary antibody deficiencies
(PADs). Because they are also among the most common infections in healthy individuals …