Adult-onset immunodeficiency - why is it important in rheumatology?

me to coordinate a review series on adult immuno-defi ciency, I voluntarily agreed and suggested 10 topics. Th e editors selected six with the greatest importance for rheumatologists. Th e authors of the six articles all come from research groups with outstanding track-records in their respective fi elds. Why present adult-onset immunodefi ciency to a readership of rheumatologists? Th e answer is simple. First, immunodefi ciency is a booming fi eld of translational immunology that should not be ignored by the rheumatologist. Second, there are increasing numbers of patients with symptoms of immunodefi ciency being seen in rheumatology clinics. Rheumatologists are often confronted with patients suff ering from either systemic autoimmune diseases plus drug-induced increased sus-cep tibility to infections or with alarming symptoms or with unusual laboratory values all indicative of a primary dysfunction of the immune system. Alarming symptoms include recurrent bouts of fever, frequent and prolonged infections, unusual pathogens, hepatosplenomegaly, lymph adenopathy, recurrent mucocutaneous candidiasis, spontaneous bone fractures, lung abscesses and non-caseating granulomas. Typical laboratory fi ndings are leukopenia, lymphopenia, low CD4 counts, myelo dys-plasia, autoimmune hemolytic anemia and thrombo cyto-penia as well as low concentrations of serum immuno-globulins or high IgE or IgM serum levels. Who is best suited to take care of these patients in our current medical systems – the general physician, the hematologist, the infectious disease expert, the clinical immunologist or the rheumatologist? My honest view is that modern rheumatology, with its intricate links to clinical immunology, is the medical discipline best prepared to follow these patients and organize a close consultation platform with other disciplines, notably hematology, infectious disease and pathology. Along these lines, rheumatologists, clinical immunologists, pediatricians, infectious disease experts and pathologists have recently founded a unique Center of Chronic Immunodefi ciency at the Freiburg University Medical Center in Germany. Th e Center covers a hitherto unmet need for expert diagnosis and treatment of immunodysregulatory and immuno defi ciency syndromes both in children and adults. Up to 10 new patients are seen every week. Many of these patients suff er from an established or a novel genetic defect. About 40% of the patients with proven monogenic immunodefi ciency syndromes also present with symptoms of systemic or localized autoimmunity. Rheumatologists should therefore become acquainted with the notion that systemic collagen–vascular disease and infl ammatory joint diseases are likely to belong to a spectrum of immunodysregulatory syndromes that com prise, in addition to autoimmunity …