ACMG	American College of Medical Genetics and Genomics
AIHA	Autoimmune Hemolytic Anemia
ALT	Alanine Aminotransferase
Anti-TT	Anti-Tetanus Toxoid
AST	Aspartate Aminotransferase
CADD	Combined Annotation Dependent Depletion
CDG	Congenital Disorders of Glycosylation
CDT	Carbohydrate-Deficient Transferrin
CM	Central Memory (T cells)
CMV	Cytomegalovirus
CNS	Central Nervous System
COL4A1	Collagen Type IV Alpha 1 chain
CSF	Cerebrospinal Fluid
DNT	Double-Negative T cells (TCRαβ+ CD4− CD8−)
EBER	EBV-encoded small RNAs (in situ hybridization)
EBV	Epstein–Barr Virus
EEG	Electroencephalography
ELISA	Enzyme-Linked Immunosorbent Assay
EM	Effector Memory (T cells)
EMG/NCS	Electromyography/Nerve Conduction Studies
FLAIR	Fluid-Attenuated Inversion Recovery
GCA	Global Cortical Atrophy
gnomAD	Genome Aggregation Database
HSCT	Hematopoietic Stem Cell Transplantation
HSV	Herpes Simplex Virus
HUS/aHUS	Hemolytic Uremic Syndrome/Atypical HUS
ID	Intellectual Disability
ITP	Immune Thrombocytopenia
IVIG	Intravenous Immunoglobulin
MAGT1	Magnesium Transporter 1
MFI	Median Fluorescence Intensity
MRA/MRV	Magnetic Resonance Angiography/Venography
MRI	Magnetic Resonance Imaging
NK	Natural Killer (cells)
NKG2D	Natural Killer Group 2, member D
NLPHL	Nodular lymphocyte-predominant Hodgkin lymphoma
OST	Oligosaccharyltransferase complex
PBMC	Peripheral Blood Mononuclear Cells
PBS	Phosphate-Buffered Saline
PCR	Polymerase Chain Reaction
PET-CT	Positron Emission Tomography–Computed Tomography
PFA	Platelet Function Assay
PML	Progressive Multifocal Leukoencephalopathy
PnPS	Pneumococcal Polysaccharide
PRES	Posterior Reversible Encephalopathy Syndrome
R-CHOP	Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, Prednisone
STT3B	Staurosporine-and-temperature-sensitive 3B
TCR	T-Cell Receptor
TEMRA	Terminally Differentiated Effector Memory re-expressing CD45RA
TMA	Thrombotic Microangiopathy
TUSC3	Tumor Suppressor Candidate 3
VUS	Variant of Uncertain Significance
vWF	von Willebrand factor
VZV	Varicella Zoster Virus
WES	Whole-Exome Sequencing
XMEN	X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia