Clinical and Epidemiological Aspects of Primary Immunodeficiency Diseases (Pid) and Early Diagnosis Options

Корсунский, И. А.; Gordukova, Maria; Munblit, Daniel; Козлов, И. Г.; Продеус, А.П.; Корсунский, А. А.

doi:10.15789/1563-0625-2017-5-505-512

Cited by 5 publications

(3 citation statements)

References 43 publications

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“…Характерна малая чувствительность к антибиотикотерапии, часто развиваются гнойные лимфадениты [12]. Прогноз зависит от сроков дебюта заболевания (длительность жизни дольше при развившейся симптоматике после года), половина пациентов доживают до 30-40 лет [3]. У взрослых на протяжении всей жизни сохраняется склонность к угрожающим жизни бактериальным инфекциям [3].…”

Section: дефекты фагоцитозаunclassified

“…В целом проявления ПИДС ассоциируются с 12 признаками (при наличии двух и более признаков необходима консультация иммунолога) [1,3,7,12…”

Section: дефекты системы комплементаunclassified

“…Принято считать, что тяжелые формы ПИДС приводят к фатальным исходам в первые 2 года жизни, однако менее тяжелые формы зачастую остаются нераспознанными, приводят к необратимым изменениям в организме и существенно ухудшают качество жизни пациентов. До 90% пациентов с ПИДС в России погибают без установленного диагноза [3], поскольку из-за отсутствия специфических симптомов первичные признаки врожденного иммунодефицита могут быть не обнаружены [3].…”

Section: Introductionunclassified

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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: дефекты фагоцитозаunclassified

Section: дефекты системы комплементаunclassified

Section: Introductionunclassified

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Skin manifestations of primary immune deficiency diseases

Churyukina¹,

Kudlаy²

2022

Russian Medical Inquiry

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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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Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

et al. 2020

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Резюме. Первичные иммунодефицитные состояния (ПИДС)-это генетически детерминированные дефекты одного или нескольких звеньев иммунной системы, препятствующие нормальному осуществлению иммунных функций. Иммунодефициты, при которых значительно нарушено антителообразование, являются наиболее часто встречаемыми и составляют около 50% от общего количества ПИДС. Описан клинический случай первичного иммунодефицитного состояния (ПИДС): Х-сцепленная агаммаглобулинемия у мальчика 8 лет. Результаты молекулярно-генетического исследования: ген ВТК (ex 1-19) версия генома GRCh38.p5, версия транскрипта ENST00000308731 выявлена однонуклеотидная замена с.1027С > Т в гомозиготном состоянии, приводящая к возникновению преждевременного стоп-кодона p.Gln343Ter (p.Q343*).

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Clinical and Epidemiological Aspects of Primary Immunodeficiency Diseases (Pid) and Early Diagnosis Options

Cited by 5 publications

References 43 publications

Skin manifestations of primary immune deficiency diseases

Skin manifestations of primary immune deficiency diseases

Immunodeficiency Disorders in Congenital Heart Diseases (Review)

Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

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