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. 2025 Jul 18;26(14):6929. doi: 10.3390/ijms26146929
AR Autosomal Recessive
ACMG American Council of Medical Genetic
CADD Combined Annotation Dependent Depletion
CIN Chronic Idiopathic Neutropenia
CVID Common Variable ImmunoDeficiency
IEI Inborn Errors of Immunity
LEF1 Lymphoid Enhancer-Binding Factor 1
LL Long Lasting
LO Late Onset
MHC Major Histocompatibility Complex
NF-κB Nuclear Factor Kappa-Light-Chain-Enhancer of Activated B-Cells
NGS Next Generation Sequencing
P Pathogenic
LP Likely Pathogenic
TNF Tumor Necrosis Factor
WES Whole Exome Sequencing
PLCG1 Phospholipase C (PLC) γ1
GAB1 GRB2-Associated Binder 1
JNK c-Jun N-Terminal Kinase
mTOR Mammalian Target of Rapamycin
SCID Severe Combined Immunodeficiency
VUS Variant of Unknown Significance