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.
منابع مشابه
a new il-2rg gene mutation in an x-linked scid identified through trec/krec screening: a case report
severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids), with known or unknown genetic alterations. here, we report a new interleukin 2 receptor, gamma chain (il-2rg) mutation in an iranian scid newborn.the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t...
متن کاملA New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.
Severe combined immunodeficiency (SCID) represents a rare group of primary immunodeficiency disorders (PIDs), with known or unknown genetic alterations. Here, we report a new interleukin 2 receptor, gamma chain (IL-2RG) mutation in an Iranian SCID newborn. The patient was a 6-day old boy with a family history of PID. The child was screened using a molecular-based analysis for the assessment of ...
متن کامل“Not Everything That Is Faced Can Be Changed, but Nothing Can Be Changed Until It Is Faced”: A Response to Recent Commentaries
متن کامل
Does Diarrhoea Causes Cataract? Can Cataract be Prevented by Aspirin?
Loss of transparency of the lens is termed cataract which is one of the commonest causes of blindness throughout the world. This major health problem appears to be much commoner in many developing countries such as India and Pakistan, where it causes visual disability at a substantially earlier age and several hypotheses have been put forward to explain this higher prevalence in these areas. Re...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2023
ISSN: ['1664-3224']
DOI: https://doi.org/10.3389/fimmu.2023.1257581