Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

نویسندگان

چکیده

This report illustrates a case that would have been missed in the most common screening algorithms used worldwide newborn (NBS) for severe combined immunodeficiency (SCID). Our patient presented with clinical picture suggested inborn error of immunity (IEI). The 6-month-old baby had normal T-cell receptor excision circle (TREC) levels but no measurable level kappa-deleting recombination circles (KRECs) NBS sample. A de novo IKZF1- mutation (c.476A>G, p.Asn159Ser) was found. picture, immunologic workup, and genetic result were consistent IKZF1 -related (CID). symptomatic treatment underwent allogeneic hematopoietic cell transplantation (HCT). CID is rare, serious, early-onset disease; this provides further insights into phenotype, including KREC status.

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ژورنال

عنوان ژورنال: Frontiers in Immunology

سال: 2023

ISSN: ['1664-3224']

DOI: https://doi.org/10.3389/fimmu.2023.1257581