Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2022; 21: 158-162
Неонатальный скрининг на первичные иммунодефицитные состояния как способ выявления синдромальных форм патологии новорожденных: клинический случай синдрома 22q11.2DS
https://doi.org/10.24287/1726-1708-2022-21-4-158-162Аннотация
Одной из основных целей неонатального скрининга является раннее выявление новорожденных с рядом тяжелых заболеваний, для которых доступно эффективное лечение, а ранняя диагностика предотвращает серьезные последствия. Первичные иммунодефициты (ПИД) представляют собой гетерогенную группу врожденных нарушений иммунитета и являются неотложными иммунологическими состояниями, требующими быстрой диагностики и лечения. Скрининг на ПИД с использованием эксцизионных колец Т-клеточного рецептора (TREC) применяется во многих странах мира. Однако кроме тяжелого комбинированного иммунодефицита в ходе неонатального скрининга могут быть обнаружены и другие формы ПИД с дефицитом Т-клеток, такие как синдром делеции 22q11.2 (22q11.2DS), синдром CHARGE, трисомия 21 и др. Синдром 22q11.2DS – один из наиболее частых хромосомных микроделеционных синдромов с предполагаемой распространенностью 1 на 3000–6000 новорожденных. Клинические проявления 22q11.2DS довольно вариабельны. Неонатальный диагноз традиционно основывается на распознавании классических признаков и цитогенетическом тестировании, но многие пациенты обращают на себя внимание только после выявления более поздних состояний. Однако ранняя постановка диагноза 22q11.2DS обеспечивает адекватное лечение и максимально возможное качество жизни таких пациентов. В статье представлен клинический случай синдрома 22q11.2DS, выявленный в ходе пилотного проекта скрининга новорожденных на ПИД в Российской Федерации в 2022 г. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
Список литературы
1. Tangye S.G., Al-Herz W., Bousfiha A., Cunningham-Rundles C., Franco J.L., Holland S.M., et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42 (7): 1473–507. DOI:10.1007/s10875-022-01289-3
2. Tangye S.G., Al-Herz W., Bousfiha A., Chatila T., Cunningham-Rundles С., Etzioni А., et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020; 40 (1): 24–64. DOI:10.1007/s10875-019-00737-x
3. Van der Burg M., Mahlaoui N., Gaspar H.B., Pai S.Y. Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Front Pediatr 2019; 7: 373. DOI:10.3389/fped.2019.00373
4. Dorsey M.J., Puck J.M. Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Immunol Allergy Clin North Am 2019; 39 (1): 1–11. DOI:10.1016/j.iac.2018.08.002
5. Argudo-Ramírez A., Martín-Nalda A., Marín-Soria J.L., López-Galera R.M., Pajares-García S., González de Aledo-Castillo J.M., et al. First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain). Front Immunol 2019; 10: 2406. DOI:10.3389/fimmu.2019.02406
6. Barry J.C., Crowley T.B., Jyonouchi S., Heimall J., Zackai E.H., Sullivan K.E., et al. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. J Clin Immunol 2017; 37 (5): 476–85. DOI:10.1007/s10875-017-0403-9
7. Martin-Nalda A., Cueto-González A.M., Argudo-Ramírez A., Marin-Soria J.L., Martinez-Gallo M., Colobran R., et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). Mol Genet Genomic Med 2019; 7 (12): e1016. DOI:10.1002/mgg3.1016
8. McDonald-McGinn D.M., Sullivan K.E., Marino B., Philip N., Swillen А., Vorstman J.A.S., et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071. DOI:10.1038/nrdp.2015.71
9. Maggadottir S.M., Sullivan K.E. The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Allergy Clin Immunol Pract 2013; 1 (6): 589–94. DOI:10.1016/j.jaip.2013.08.003
10. Nepesov S., Aygün F.D., Küçüksezer U., Taşdemir E., Çokuğraş H., Camcıoğlu Y. Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience. Turk Pediatri Ars 2019; 54 (1): 28–34. DOI:10.14744/TurkPediatriArs.2019.95815
11. Швец О.В., Давыдова Н.В., Зимин С.Б., Котлукова Н.П., Бочарова К.А., Продеус А.П., Щербина А.Ю. Клинические и лабораторные проявления дефектов иммунной системы у пациентов с синдромом del22q11.2 (синдромом ДиДжорджи). Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2013; 12 (4): 23–30.
12. McDonald-McGinn D.M., Hain H.S., Emanuel B.S., et al. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2020 Feb 27]. In: Adam M.P., Everman D.B., Mirzaa G.M., et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
13. Fiksinski A.M., Schneider M., Murphy C.M., Armando M., Vicari S., Canyelles J.M., et al. Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176 (10): 2182–91. DOI:10.1002/ajmg.a.40387
14. Kwan A., Church J.A., Cowan M.K., Agarwal R., Kapoor N., Kohn D.B., et al. Newborn screening for SCID and T cell lymphopenia in California: results of the first two years. J Allergy Clin Immunol 2013; 132 (1): 140–50. DOI:10.1016/j.jaci.2013.04.024
15. Routes J.M., Grossman W.J., Verbsky J., Laessig R.H., Hoffman G.L., Brokopp C.D., Baker M.W.Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009; 302 (22): 2465–70. DOI:10.1001/jama.2009.1806
16. Vogel B.H., Bonagura V., Weinberg G.A., Ballow М., Isabelle J., DiAntonio L., et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 2014; 34 (3): 289–303. DOI:10.1007/s10875-014-0006-7
17. Crowley B., Ruffner M., McDonald McGinn D.M., Sullivan K.E. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176 (10): 2082–6. DOI:10.1002/ajmg.a.38597
Pediatric Hematology/Oncology and Immunopathology. 2022; 21: 158-162
Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome
https://doi.org/10.24287/1726-1708-2022-21-4-158-162Abstract
One of the main goals of newborn screening is the early detection of a number of severe disorders for which effective treatment is available, and early diagnosis prevents serious consequences. Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital immune disorders and are urgent immunological conditions requiring prompt diagnosis and treatment. Screening for primary immunodeficiencies using T-cell receptor excision circles (TREC) is used in many countries around the world. However, in addition to severe combined immunodeficiency, other forms of PIDs with T cell deficiency such as 22q11.2 deletion syndrome (22q11.2DS), CHARGE syndrome, trisomy 21, etc., can be detected during newborn screening. 22q11.2DS syndrome is one of the most common chromosomal microdeletion syndromes with an estimated prevalence of 1 in 3000–6000 births. The clinical manifestations of 22q11.2DS are quite variable. Neonatal diagnosis is traditionally based on the recognition of classic features and cytogenetic testing but many patients only come to medical attention after later symptoms have been identified. Still, the early diagnosis of 22q11.2DS ensures adequate treatment and the highest possible quality of life in such patients. Here, we report a clinical case of 22q11.2DS syndrome identified during a pilot project of newborn screening for primary immunodeficiencies in the Russian Federation in 2022. The patient’s parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.
References
1. Tangye S.G., Al-Herz W., Bousfiha A., Cunningham-Rundles C., Franco J.L., Holland S.M., et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42 (7): 1473–507. DOI:10.1007/s10875-022-01289-3
2. Tangye S.G., Al-Herz W., Bousfiha A., Chatila T., Cunningham-Rundles S., Etzioni A., et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020; 40 (1): 24–64. DOI:10.1007/s10875-019-00737-x
3. Van der Burg M., Mahlaoui N., Gaspar H.B., Pai S.Y. Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Front Pediatr 2019; 7: 373. DOI:10.3389/fped.2019.00373
4. Dorsey M.J., Puck J.M. Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Immunol Allergy Clin North Am 2019; 39 (1): 1–11. DOI:10.1016/j.iac.2018.08.002
5. Argudo-Ramírez A., Martín-Nalda A., Marín-Soria J.L., López-Galera R.M., Pajares-García S., González de Aledo-Castillo J.M., et al. First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain). Front Immunol 2019; 10: 2406. DOI:10.3389/fimmu.2019.02406
6. Barry J.C., Crowley T.B., Jyonouchi S., Heimall J., Zackai E.H., Sullivan K.E., et al. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. J Clin Immunol 2017; 37 (5): 476–85. DOI:10.1007/s10875-017-0403-9
7. Martin-Nalda A., Cueto-González A.M., Argudo-Ramírez A., Marin-Soria J.L., Martinez-Gallo M., Colobran R., et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). Mol Genet Genomic Med 2019; 7 (12): e1016. DOI:10.1002/mgg3.1016
8. McDonald-McGinn D.M., Sullivan K.E., Marino B., Philip N., Swillen A., Vorstman J.A.S., et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071. DOI:10.1038/nrdp.2015.71
9. Maggadottir S.M., Sullivan K.E. The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Allergy Clin Immunol Pract 2013; 1 (6): 589–94. DOI:10.1016/j.jaip.2013.08.003
10. Nepesov S., Aygün F.D., Küçüksezer U., Taşdemir E., Çokuğraş H., Camcıoğlu Y. Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience. Turk Pediatri Ars 2019; 54 (1): 28–34. DOI:10.14744/TurkPediatriArs.2019.95815
11. Shvets O.V., Davydova N.V., Zimin S.B., Kotlukova N.P., Bocharova K.A., Prodeus A.P., Shcherbina A.Yu. Klinicheskie i laboratornye proyavleniya defektov immunnoi sistemy u patsientov s sindromom del22q11.2 (sindromom DiDzhordzhi). Voprosy gematologii/onkologii i immunopatologii v pediatrii 2013; 12 (4): 23–30.
12. McDonald-McGinn D.M., Hain H.S., Emanuel B.S., et al. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2020 Feb 27]. In: Adam M.P., Everman D.B., Mirzaa G.M., et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
13. Fiksinski A.M., Schneider M., Murphy C.M., Armando M., Vicari S., Canyelles J.M., et al. Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176 (10): 2182–91. DOI:10.1002/ajmg.a.40387
14. Kwan A., Church J.A., Cowan M.K., Agarwal R., Kapoor N., Kohn D.B., et al. Newborn screening for SCID and T cell lymphopenia in California: results of the first two years. J Allergy Clin Immunol 2013; 132 (1): 140–50. DOI:10.1016/j.jaci.2013.04.024
15. Routes J.M., Grossman W.J., Verbsky J., Laessig R.H., Hoffman G.L., Brokopp C.D., Baker M.W.Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009; 302 (22): 2465–70. DOI:10.1001/jama.2009.1806
16. Vogel B.H., Bonagura V., Weinberg G.A., Ballow M., Isabelle J., DiAntonio L., et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 2014; 34 (3): 289–303. DOI:10.1007/s10875-014-0006-7
17. Crowley B., Ruffner M., McDonald McGinn D.M., Sullivan K.E. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176 (10): 2082–6. DOI:10.1002/ajmg.a.38597
