STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman’s-Like Disease
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00682-9
Abstract: To the Editor: Combined immunodeficiency diseases (CID) are a heterogeneous group of disorders which all share profound T cell dysfunction. The presence of autologous T cells complicates diagnosis as these exhibit varying degrees of functionality,… read more here.
Keywords: salt losing; losing tubulopathy; castleman like; immune complex ... See more keywords
A case to use “salt‐losing tubulopathy” instead of “Bartter/Gitelman syndrome”
Sign Up to like & getrecommendations! Published in 2020 at "Pediatrics International"
DOI: 10.1111/ped.14187
Abstract: Bartter syndrome (BS) types 1–4 and Gitelman syndrome (GS) are caused by mutations in genes that encode renal ion transporters and channels located in the thick ascending limb of Henle’s loop (TALH) and distal convoluted… read more here.
Keywords: salt losing; salt; losing tubulopathy; type ... See more keywords