Article
Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings.
Journal of clinical immunology - 1 May 2015
Niemela Julie, Kuehn Hye Sun, Kelly Corin, Zhang Mingchang, Davies Joie, Melendez Jose, Dreiling Jennifer, Kleiner David, Calvo Katherine, Oliveira João B, Rosenzweig Sergio D
Abstract excerpt
Caspase-8 deficiency (CED) was originally described in 2002 in two pediatric patients presenting with clinical manifestations resembling autoimmune lymphoproliferative syndrome (ALPS) accompanied by infections, and T, B and NK cell defects. Since then, no new CED patients were published. Here we report two adult siblings (Pt1 and Pt2) presenting in their late thirties with pulmonary hypertension leading to lung...
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