Introduction: Gain-of-function (GOF) mutations in the signal transducer and activator of transcription […]
Novel STAT1 gain-of-function variants and treatment monitoring in a Chilean cohort Read More »
INTRODUCTION: Secondary immunodeficiencies (SID) are acquired declines of immune cell counts and
Secondary Immunodeficiencies a monocentric experience. Read More »
BACKGROUND: The Clinical Genome Resource (ClinGen) is an international consortium with the
ClinGen: Expert variant curation in CTLA4 using gene-specific ACMG/AMP guidelines Read More »
Background: Mutations in the Signal Transducer and Activator of Transcription (STAT)5b, are
Common Variable immunodeficiency(CVID) is the most frequent symptomatic inborn human error in
