Article
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
The Journal of allergy and clinical immunology - 1 Jan 2024
Rensing-Ehl Anne, Lorenz Myriam Ricarda, Führer Marita, Willenbacher Wolfgang, Willenbacher Ella, Sopper Sieghart, Abinun Mario, Maccari Maria Elena, König Christoph, Haegele Pauline, Fuchs Sebastian, Castro Carla, Kury Patrick, Pelle Olivier, Klemann Christian, Heeg Maximilian, Thalhammer Julian, Wegehaupt Oliver, Fischer Marco, Goldacker Sigune, Schulte Björn, Biskup Saskia, Chatelain Philippe, Schuster Volker, Warnatz Klaus, Grimbacher Bodo, Meinhardt Andrea, Holzinger Dirk, Oommen Prasad Thomas, Hinze Tanja, Hebart Holger, Seeger Karlheinz, Lehmberg Kai, Leahy Timothy Ronan, Claviez Alexander, Vieth Simon, Schilling Freimut H, Fuchs Ilka, Groß Miriam, Rieux-Laucat Frederic, Magerus Aude, Speckmann Carsten, Schwarz Klaus, Ehl Stephan
Abstract excerpt
BACKGROUND: Elevated TCRαβ+CD4-CD8- double-negative T cells (DNT) and serum biomarkers help identify FAS mutant patients with autoimmune lymphoproliferative syndrome (ALPS). However, in some patients with clinical features and biomarkers consistent with ALPS, germline or somatic FAS mutations cannot be identified on standard exon sequencing (ALPS-undetermined: ALPS-U). OBJECTIVE: We sought to explore whether...
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