TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clinical and Experimental Immunology
M DasoukiA Hawwari

Abstract

Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous diseases. T cell receptor excision circles (TRECs) and κ (kappa)-deleting excision circles (KRECs) are markers of T and B cell development, respectively. They are useful tools to assess T and B cell function and immune reconstitution and have been used for newborn screening for severe combined immunodeficiency disease (SCID) and agammaglobulinemia, respectively. Their profiles in several genetically confirmed PIDs are still lacking. The objective of this study was to determine TREC and KREC genomic profiling among various molecularly confirmed PIDs. We used real-time-quantitative polymerase chain reaction (RT-qPCR)-based triplex analysis of TRECs, KRECs and β-actin (ACTB) in whole blood genomic DNA isolated from 108 patients with molecularly confirmed PIDs. All agammaglobulinemia patients had low KREC counts. All SCIDs and Omenn syndrome patients secondary to mutations in RAG1, RAG2, DCLRE1C and NHEJ1 had low TREC and KREC counts. JAK3-deficient patients had normal KREC and the TREC count was influenced by the type of mutation. Early-onset ADA patients had low TREC and KREC counts. Four patients with zeta-chain-associated protein kinase 70 (Z...Continue Reading

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Citations

Feb 9, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Oded Shamriz
Apr 4, 2021·Diagnostics·Francesco RispoliAlberto Tommasini
Aug 25, 2021·Immunologic Research·Oksana BoyarchukBohdan Tretyak

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