Neonatal Screening for Primary Immunodeficiency and Т-/B- Cell Lymphopenia as the Basis for the Formation of Risk Groups for Children With Congenital Pathologies

Korsunsky, Ilya; Kudlаy, D.А.; Продеус, А.П.; Shcherbina, Anna; Rumyantsev, A.G.; Rogachev, Moscow Immunology named after Dmitry

doi:10.24110/0031-403x-2020-99-2-8-15

Cited by 8 publications

(3 citation statements)

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“…Диагностика ПИДС, как правило, проходит в несколько этапов [14,15] V этап -генетическое исследование (определение дефекта).…”

Section: клиническая практика / Clinical Practiceunclassified

“…Кольца TREC сопровождают созревание практически всех T-лимфоцитов, KREC -всех В-лимфоцитов и, таким образом, могут служить маркерами их количества [14]. Снижение количества TREC и KREC в крови свидетельствует о наличии иммунодефицитных состояний, выявление которых позволяет разработать эффективную программу мониторинга и постнатального сопровождения детей [15,16].…”

Section: клиническая практика / Clinical Practiceunclassified

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Skin manifestations of primary immune deficiency diseases

Churyukina¹,

Kudlаy²

2022

Russian Medical Inquiry

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Primary immune deficiency diseases (PIDDs) are a group of severe genetically determined diseases caused by a disorder of the immunity links: humoral and cell-mediated links, phagocytosis, complement system. PIDDs are characterized by severe atypical recurrent infections, as well as autoimmune and oncological processes. In the case of clinical symptoms, skin manifestations in PIDDs allow to suspect the presence of congenital disorders of immunity. There is a technique in laboratory diagnostics of PIDDs, that determines a decrease in the number of T- and B-lymphocytes based on measuring the levels of TREC (T-cell Receptor Excision Circle) and KREC (Kappa-deleting Recombination Excision Circle), which are by-products of recombination of T- and B-cell receptor genes. TREC and KREC levels can be assessed using a reagent kit for quantifying TREC and KREC DNA by PCR in real time. The analysis can be conducted using both whole blood and DNA obtained from dried blood stains collected during the national newborn screening program. Today, quantitative analysis of TREC and KREC in dried blood stains on newborn screening cards is becoming the method of choice for newborn screening of PIDDs. The inclusion of the PIDDs diagnosis in the federal newborn screening program will allow detecting disorders of the immune system before their clinical manifestations, which will allow to apply modern treatment protocols, reduce disability and ensure high patient survival. KEYWORDS: TREC, KREC, PIDDs, newborn screening, PCR, immunity, early diagnosis. FOR CITATION: Churyukina E.V., Kudlay D.A. Skin manifestations of primary immune deficiency diseases. Russian Medical Inquiry. 2022;6(2):98–104 (in Russ.). DOI: 10.32364/2587-6821-2022-6-2-98-104

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Section: клиническая практика / Clinical Practiceunclassified

Skin manifestations of primary immune deficiency diseases

Churyukina¹,

Kudlаy²

2022

Russian Medical Inquiry

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“…A method for multiplex real-time PCR that makes it possible to detect defects in T and B cells generation by simultaneously measuring TREC and KREC copy numbers has been developed [ 14 , 15 ]. Mass screening for the TREC/KREC level could help us classify an infant as a risk group patient based on their immunological profile as early as in the neonatal period; this will increase the survival rate of infants with an immune-related pathology and reduce expenses [ 16 , 17 , 18 ]. This approach has other advantages, including high sensitivity, high throughput capacity, relatively low cost, and the possibility of using DNA isolated from the minimum volume of a blood sample collected using Guthrie cards [ 6 , 16 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

Analysis of the TREC and KREC Levels in the Dried Blood Spots of Healthy Newborns with Different Gestational Ages and Weights

et al. 2022

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Inborn errors of immunity can be detected by evaluating circular DNA (cDNA) fragments of T- and B-cell receptors (TREC and KREC) resulting from the receptor gene rearrangement in T and B cells. Maturation and activation of the fetal immune system is known to proceed gradually according to the gestational age, which highlights the importance of the immune status in premature infants at different gestational ages. In this article, we evaluated TREC and KREC levels in infants of various gestational ages by real-time PCR with taking into account the newborns weight and sex. The 95% confidence intervals for TREC and KREC levels (expressed in the number of cDNA copies per 105 cells) were established for different gestational groups. The importance of studying immune system development in newborns is informed by the discovered dependence of the level of naive markers on the gestational stage in the early neonatal period.

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Evolutionary aspects of thymology in pediatric practice

et al. 2023

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The thymus is now considered a derivative of the immune system being, to greater extent, its central organ. Immunodeficiency states and immune dysregulation also depend on the quality of the thymus, which may be determined both genetically and by fetopathic approach as well as due to the possibility and mode of its intravital injuries, age-related involution over different periods of life. Not accidentally, there are various morphometric bipolar states of the thymus gland in the pediatric population (3-7%), whereas its size may be sufficiently larger or smaller than the reference variable values. In certain cases, the phenomenon of thymomegaly (for example, in newborns) is considered a result of genetic errors (neuro-endocrine-immune syndrome with thymomegaly) induced by the mutated Hox genes. This syndrome may also be associated with congenital heart disorders. Moreover, the excessive morbidity in respiratory infections (commonly, viral by their etiology) among young children with bipolar thymus conditions remains the subject of sharp discussions. Some works assessing immune status in the children subjected to forced thymectomy, e.g., during heart surgery, yielded quite controversial results, even in cases of subtotal removal of thymus gland.Dialectically, the concepts of “morphology” and “organ function” could not be separated from one another. The morphometric transformations in organs (even transient ones) occuring within the range of > 95 and < 5 percentiles, should be almost always underlied by a certain pathomorphosis which require verification of their causes and origin. Even today, however, the assessment of thymus pathomorphology in the deceased children is not always critical, being often descriptive. This situation is, probably, associated with extreme complexity of thymic morphology assessment. The final point seems to be not set in the discussion about immunodeficiency states or immune dysregulation among children with bipolar thymus transformations. This is due to current absence of reliable immune-mediated biomarkers, the limited availability of genetic diagnostics in primary immunodeficiency conditions, and a decreased interest of clinical science in the issues of bipolar conditions of the thymus gland at the early age, in the absence of longitudinal observations in this category of patients, etc. In this article, the authors attempt to draw attention of researchers to this problem.

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Neonatal Screening for Primary Immunodeficiency and Т-/B- Cell Lymphopenia as the Basis for the Formation of Risk Groups for Children With Congenital Pathologies

Cited by 8 publications

References 0 publications

Skin manifestations of primary immune deficiency diseases

Skin manifestations of primary immune deficiency diseases

Analysis of the TREC and KREC Levels in the Dried Blood Spots of Healthy Newborns with Different Gestational Ages and Weights

Evolutionary aspects of thymology in pediatric practice

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