Titlebook: Rare Rheumatic Diseases of Immunologic Dysregulation; Teresa Kathleen Tarrant Book 2019 Springer Nature Switzerland AG 2019 Rheumatology.I

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Macrophage Activation Syndrome, and to reduce overall morbidity. Early diagnosis, however, is often challenging due to the rarity of the disease and lack of specific clinical and laboratory features. The purpose of this chapter is to review the current understanding of the pathophysiology, presentation, evaluation, and treatment of HLH with a focus on MAS.

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Relapsing Polychondritis, used to describe this entity. Current nomenclature of relapsing polychondritis was proposed in 1960 by Pearson et al. RP is known to be associated with a number of rheumatologic conditions including vasculitis, rheumatoid arthritis, and systemic lupus erythematosus (SLE).

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AWL

Recurrent Fever Syndromes,sociated with inflammatory manifestations. Five clinical entities can be considered as the prototypical RFS: familial Mediterranean fever (FMF), tumour necrosis factor (TNF), receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndromes (C

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Common Variable Immunodeficiency (CVID),lmonary infections, hypogammagloblunemia, inadequate vaccination responses, and in a subset, co-existent autoimmune and inflammatory disease. The definition and diagnosis of CVID has evolved since its recognition in 1971 from one of exclusion to include the laboratory and clinical manifestations of

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