The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients

Medova, Veronika; Hulínková, Ivana; Laiferová, Nikoleta Alchus; Urdová, Veronika; Čižnár, Peter; Dolníková, Dana; Krasnanova, Veronika; Fabri, Oksana; Ficek, Andrej; Šoltýsová, Andrea

doi:10.1016/j.clim.2022.109155

Cited by 3 publications

(5 citation statements)

References 43 publications

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“…In the case of our patient, initial negative molecular testing for SCID led to next generation sequencing and detection of the GATA2 variant. It was decided to use this diagnostic method to confirm the diagnosis, which proved to be a cost-effective approach for our group ( 15 , 16 ).…”

Section: Discussionmentioning

confidence: 99%

GATA2 deficiency detected by newborn screening for SCID: A case report

et al. 2023

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The early diagnosis and treatment of inborn errors of immunity (IEI) is crucial in reducing the morbidity and mortality due to these disorders. The institution of newborn screening (NBS) for the diagnosis of Severe Combined Immune Deficiency (SCID) has decreased the mortality of this disorder and led to the discovery of novel genetic defects that cause this disease. GATA2 deficiency is an autosomal dominant, pleiotropic disease with clinical manifestations that include bone marrow failure, monocyte and B cell deficiency, leukemia, pulmonary alveolar proteinosis and lymphedema. We present the case of an infant identified by newborn screening for SCID due to GATA2 deficiency.

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Section: Discussionmentioning

confidence: 99%

GATA2 deficiency detected by newborn screening for SCID: A case report

et al. 2023

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“…On the basis of a predetermined cut-off value 9 according to the same TREC quantification method, we evaluated a group of patients with TREC levels in the so-called gray zone. Cut-off values were reported as the 5 th percentile and were defined for TREC molecules per 10 6 cells as 5202 copies for isolation from DBS.…”

Section: Trec Below the Set Cut-off Valuementioning

confidence: 99%

“…The aim of this study was to evaluate the effect of TREC copy numbers on the clinical outcome and survival of children hospitalized in a Neonatal Intensive Care Unit (NICU) in a pediatric hospital. The study is based on a previously defined age-specific physiological levels and cut-off values 9 . We emphasize the variability of TREC cut-off values used among different countries and ethnicities, supporting the need for specific population adjusted values 10 .…”

Section: Introductionmentioning

confidence: 99%

Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care

Hulínková¹,

Medova²,

Šoltýsová³

et al. 2023

BIOMED PAP

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Aim. Circular DNA segments TREC (T-cell receptor excision circles) formed during T-lymphocyte maturation in the thymus, are a sensitive marker of thymic lymphocyte production in a broader manner. Quantification using qPCR is proposed as a surrogate marker of T cell malfunction in various primary and secondary conditions in a non-SCID selected risk newborn population. Methods. We collected 207 dry blood spot samples during the years 2015-2018, from newly admitted risk newborns. TREC values calculated per 10 6 cells were determined and a cut-off values of 5th percentile was set. The positive control group consisted of patients (n=13) with genetically confirmed SCID.

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“…Открытие TREC и KREC предоставило новые возможности для изучения иммунной системы и привело к лучшему пониманию механизмов перегруппировки генетического материала для генерации разнообразного набора Т-клеточных рецепторов, которые могут распознавать широкий спектр патогенов и реагировать на них [29,[50][51][52][53]. С момента первоначального открытия TREC и KREC были достаточно изучены, и их использование в качестве маркеров наивных Т-и В-клеток получило широкое распространение в иммунологических исследованиях у здоровых лиц различного возраста и при различной патологии, включая первичные и вторичные ИДС у новорожденных [31,[53][54][55].…”

Section: методы изучения иммунитетаunclassified

“…Данные о возможности изучения TREC и KREC в качестве маркеров ИДС при ВПС немногочисленны. Установлено их значительное снижение по сравнению со здоровыми, а также при критических ВПС по сравнению с детьми с некритическими аномалиями [55]. TREC и KREC проявили себя как многообещающие индикаторы для прогнозирования исходов у пациентов с ВПС.…”

Section: методы изучения иммунитетаunclassified

Immunodeficiency Disorders in Congenital Heart Diseases (Review)

Degtyareva,

Mwela,

Prodeus

et al. 2023

Pediatr. farmakol.

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The study data of the last two decades on primary and secondary immunodeficiency in congenital heart defects (CHD) as a cause of frequent infectious complications before and after cardiac surgery are presented. Based on screenings of various levels, data are provided on the greater severity of immunological disorders in critical and cyanotic CHD in conotruncal defects compared with those in septal defects and stenotic defects. Violations were more often related to T-cell function and immunoglobulin deficiency (especially the IgG and IgG4 subgroups). Various types of primary immunodeficiency were found in 13 genetic syndromes in combination with CHD. The review discusses the possibility of using the technique of quantitative determination of DNA TREC and KREC — by-products of maturation of T- and B-cell receptors, which allows us to judge the defects of the T- and B-cell links of the immune system to predict infectious complications in children with CHD. The data of our own study of 200 infants with CHD (in 5% of cases with syndromic forms of CHD) are presented, where a decrease in TREC was found in 23.5% of cases, including all infants with syndromic forms, more often with cyanotic and conotruncal CHD and in children admitted in critical conditions. In children with reduced TREC values, infectious complications in the postoperative period were observed significantly more often than in children with normal indicators (36 and 3.6%, respectively). The analysis of publications confirmed the importance of TREC and KREC screening for targeted preoperative preparation in order to reduce postoperative complications and reduce the risk of mortality in CHD.

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The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients

Cited by 3 publications

References 43 publications

GATA2 deficiency detected by newborn screening for SCID: A case report

GATA2 deficiency detected by newborn screening for SCID: A case report

Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care

Immunodeficiency Disorders in Congenital Heart Diseases (Review)

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