A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.

Aaqib Zaffar BandayAnit KaurTadayuki AkagiDharmagat BhattaraiMasahiro MuraokaDiksha DevJhumki DasMan Updesh Singh SachdevaIndrani KarmakarKanika AroraGurjit KaurVignesh PandiarajanAnkur Kumar JindalTaizo WadaH Phillip KoefflerDeepti SuriJasmina AhluwaliaHirokazu KaneganePrateek BhatiaAmit RawatSurjit Singh

Published in: Journal of clinical immunology (2022)

Homozygous c.655_665del variant in CEBPE causes SGD. Anomalous automated neutrophil counts may be reported in patients with SGD type I. Aberrant TLR signaling might be an additional pathogenetic mechanism underlying immunodeficiency in SGD type I.

Keyphrases

toll like receptor
machine learning
inflammatory response
deep learning
immune response
peripheral blood