Αρχειοθήκη ιστολογίου

Πέμπτη 4 Ιανουαρίου 2018

An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers

This report describes an association between the X-linked agammaglobulinemia (XLA) contiguous BTK, TIMM8A, TAF7L gene syndrome and repeated testicular cancers. A previous Annals report described an association of XLA and Mohr-Tranebjaerg syndrome (MTS) in this now 28-year-old man first diagnosed at 11 months of age.1 The patient was diagnosed with XLA when he presented with acute bilateral flaccid paralysis subsequent to a varicella vaccination and was found to have hypogammaglobinemia (IgG, <7 mg/dL; IgA, <7 mg/dL; and IgM, 21 mg/dL) and absent B cells.

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