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Patients with sickle cell disease underwent ECG with assessment of tricuspid valve regurgitant jet velocity (TRJV) to screen for pulmonary hypertension, followed by right heart catheterization if the TRJV was 2.5 m per second or more. Prevalence was 27% on the basis of ECG criteria but only 6% on the basis of catheterization.
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Autosomal dominant chronic mucocutaneous candidiasis (CMC) is a severe immunodeficiency characterized by mucosal infections with fungi. Mutations affecting a particular region of the STAT1 signaling protein cause autosomal dominant CMC, probably through denting of the responses of type 1 and type 17 helper T cells.
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