Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Mehmet C CatakBengu AkcamSevgi Bilgic EltanRoyala BabayevaIbrahim S KarakusGamze AkgunDilek BaserAlper BulutogluFeyza BayramNurhan KasapAyça KiykimGonca HanciogluSefika İlknur Kokcu KaradagYasemin Kendir DemirkolSelime OzenŞükrü ÇekiçDilek KaragozNeslihan Edeer KaracaAyse Senay SasihuseyinogluMurat CanseverEsra Ozek YucelZeynep Ulker TamayDerya Ufuk AltintasÇiğdem AydoğmuşFatih CelmeliHaluk Cezmi CokugrasNesrin GülezFerah GenelAyse MetinSukru Nail GunerNecil KütükçülerSevgi Kelesİsmail ReisliSara Sebnem KilicAlisan YildiranElif Karakoç AydınerBernice LoAhmet OzenSafa BarışPublished in: Allergy (2022)
This cohort provided detailed clinical and laboratory comparisons for LRBA deficiency and CTLA-4 insufficiency. The flow cytometric approach is useful in predicting the defective gene; thus, targeted sequencing can be conducted to provide rapid diagnosis and treatment for these diseases impacting the CTLA-4 pathway.