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

Dasouki M. | Zendy; Jabr A. | Zendy; AlDakheel G. | Zendy; Elbadaoui F. | Zendy; Alazami A. M. | Zendy; AlSaud B. | Zendy; Arnaout R. | Zendy; Aldhekri H. | Zendy; Alotaibi I. | Zendy; AlMousa H. | Zendy; Hawwari A. | Zendy

Open Access

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

Author(s) -

Dasouki M.,

Jabr A.,

AlDakheel G.,

Elbadaoui F.,

Alazami A. M.,

AlSaud B.,

Arnaout R.,

Aldhekri H.,

Alotaibi I.,

AlMousa H.,

Hawwari A.

Publication year - 2020

Publication title -

clinical & experimental immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.329

H-Index - 135

eISSN - 1365-2249

pISSN - 0009-9104

DOI - 10.1111/cei.13484

Subject(s) - primary immunodeficiency , immunology , severe combined immunodeficiency , immunodeficiency , newborn screening , medicine , immune system , biology , genetics , pediatrics , gene

RT‐qPCR quantification analysis of TRECs and KRECs in gDNA of patients with many diverse molecularly confirmed Primary Immunodeficiency Diseases was performed. Our data suggest that in addition to classical SCID and agammaglobulinemia, the TREC/KREC assay may identify secondary targets including some patients with ZAP70 deficiency, DOCK8 deficiency, ataxia telangiectasia, Wiskott‐Aldrich and bare lymphocyte syndromes.

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