Primary immunodeficiency diseases in the newborn

Özdemir, Öner

doi:10.14744/nci.2020.43420

Primary immunodeficiency diseases in the newborn

Öner ÖZDEMİR (Sakarya Üniversitesi Tıp Fakültesi Eğitim ve Araştırma Hastanesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Alerji ve İmmünoloji Bilim Dalı, Adapazarı, Sakarya, Türkiye)

İstanbul Kuzey Klinikleri

3 0

Yıl: 2021 Cilt: 8 Sayı: 4 Sayfa Aralığı: 405 - 413 Metin Dili: İngilizce DOI: 10.14744/nci.2020.43420 İndeks Tarihi: 21-01-2022

Primary immunodeficiency diseases in the newborn

Öz:

The normal neonate’s immune system is anatomically completed but antigenically inexperienced and shows somewhat decreased role of a number of immunological pathways. Aside from anatomic characteristics (e.g., thin skin and mucosal barriers) of newborn, weakened pro-inflammatory and T-helper cell type 1 cytokine release and lessened cell-mediated immunity predispose the neonate more susceptible to all types of infections. Furthermore, many types of primary immunodeficiency diseases (PIDs) that present in neonatal period are potentially life threatening. However, most of the newborns stand this period without sickness due to complete innate immunity with other adaptive immune system mechanisms and transferred maternal immunoglobulin G. Besides unique immunity of the preterm and normal newborns; risk factors, clinical features, and laboratory evaluation of most common PIDs in newborn are told in this article. The range of PIDs is growing, and the diagnosis and management of these disorders continues to increase in complexity. The most common PID types of the newborn including antibody deficiencies, cellular/combined immunodeficiencies, phagocytic diseases, complement deficiencies, and innate immune system and other disorders are briefly mentioned here as well.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

1. Dowling DJ, Levy O. Ontogeny of early life immunity. Trends Immunol 2014;35:299–310.
2. Stiehm ER, Ochs HD, Winkelstein JA. Immunodeficiency disorders: General considerations. In: Stiehm ER, Ochs HD, Winkelstein JA, editors. Immunologic disorders in infants and children. 5th ed. Philadelphia: Elsevier; 2005. p. 311.
3. Kobayashi RH, Hyman CJ, Stiehm ER. Immunologic maturation in an infant born to a mother with agammaglobulinemia. Am J Dis Child 1980;134:942–4.
4. Sharma AA, Jen R, Butler A, Lavoie PM. The developing human preterm neonatal immune system: a case for more research in this area. Clin Immunol 2012;145:61–8.
5. Cates KL, Rowe JC, Ballow M. The premature infant as a compromised host. Curr Probl Pediatr 1983;13:1–63.
6. Strunk T, Currie A, Richmond P, Simmer K, Burgner D. Innate immunity in human newborn infants: prematurity means more than immaturity. J Matern Fetal Neonatal Med 2011;24:25–31.
7. Walkovich K, Connelly JA. Primary immunodeficiency in the neonate: early diagnosis and management. Semin Fetal Neonatal Med 2016;21:35–43.
8. Ballow M, Cates KL, Rowe JC, Goetz C, Desbonnet C. Development of the immune system in very low birth weight (less than 1500 g) premature infants: concentrations of plasma immunoglobulins and patterns of infections. Pediatr Res 1986;20:899–904.
9. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007;27:497–502.
10. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol 2010;125:S182–94.
11. Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, et al; Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 2015;136:1186–205.e1–78.
12. Carlo WA. The high-risk infant. In: Nelson Textbook of Pediatrics. 20th ed. Kleigman RM, Stanton BMD, St. Geme J, Schor NF, editors. Philadelphia: Elsevier; 2016. p. 818.
13. Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics 2011;127:810–6.
14. O’Connell AE. Primary immunodeficiency in the NICU. Neoreviews 2019;20:e67–78.
15. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol 2012;129:607–16.
16. Özdemir Ö. Neonatal Screening test for severe combined immunodeficiency of primary immunodeficiency diseases: TREC Assay and Its Limitations. MOJ Immunol 2016;3:00107.
17. Routes J, Verbsky J. Newborn screening for severe combined immunodeficiency. Curr Allergy Asthma Rep 2018;18:34.
18. Del Vecchio A, Christensen RD. Neonatal neutropenia: what diagnostic evaluation is needed and when is treatment recommended? Early Hum Dev 2012;88 Suppl 2:S19–24.
19. Curtis MG, Walker B, Denny TN. Flow cytometric methods for prenatal and neonatal diagnosis. J Immunol Methods 2011;363:198–209.
20. Özdemir Ö, Karavaizoğlu Ç. Utilization of flow cytometry in immunologic and allergic diseases. Asthma Allergy Immunol 2016;14:117–28.
21. Thornton CA, Capristo CC, Power LL, Holloway J, Popplewell EJ, Diaper ND, et al. The effect of labor on neonatal T-cell phenotype and function. Pediatr Res 2003;54:120–4.
22. Özdemir Ö. Current approach to primary immunodeficiency diseases. South Clin Ist Euras 2019;30:83–90.
23. Özdemir Ö. Approach to primary immunodeficiency disease from frequently used simple laboratory tests in a daily clinic routine. Güncel Pediatri 2019;17:151–69.
24. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, 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;40:24–64.
25. Stiehm ER, Puck JM, TePas E. Recognition of immunodeficiency in the first three months of life. Available at: https://www.uptodate.com/ contents/recognition-of-immunodeficiency-in-the-first-three-monthsof-life. Accessed Feb 23, 2021.
26. Chiarini M, Zanotti C, Serana F, Sottini A, Bertoli D, Caimi L, et al. T-cell receptor and K-deleting recombination excision circles in newborn screening of T- and B-cell defects: review of the literature and future challenges. J Public Health Res 2013;2:9–16.
27. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) 2006;85:193– 202.
28. Kwan A, Puck JM. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol 2015;39:194– 205.
29. Müller SM, Ege M, Pottharst A, Schulz AS, Schwarz K, Friedrich W. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 2001;98:1847–51.
30. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol 2014;133:1092–8.
31. Pereira E, Marion R. Chromosome 22q11.2 deletion syndrome. Pediatr Rev 2015;36:270–2.
32. Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol 2011;18:42–8.
33. Etzioni A, Ochs HD. The hyper IgM syndrome-an evolving story. Pediatr Res 2004;56:519–25.
34. Ostadi V, Sherkat R, Migaud M, Modaressadeghi SM, Casanova JL, Puel A, et al. Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis. Med Mycol 2021;59:180–8.
35. Schoenaker MHD, Blom M, de Vries MC, Weemaes CMR, van der Burg M, Willemsen MAAP. Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective. Eur J Pediatr 2020;179:251– 6.
36. Hinson A, Owen W, Prose N, Parikh S, Thornburg C. Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. J Pediatr Hematol Oncol 2015;37:300–3.
37. Iwatani S, Uemura K, Mizobuchi M, Yoshimoto S, Kawasaki K, Kosaka Y, et al. Familial hemophagocytic lymphohistiocytosis presenting as hydrops fetalis. Am J Perinatol Rep 2015;5:e22–4.
38. Verbsky JW, Chatila TA. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr 2013;25:708–14.
39. Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis 2015;60:1176–83.
40. Ward AC, Dale DC. Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol 2009;16:9–13.
41. Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am 2013;27:89–99.
42. van de Vijver E, van den Berg TK, Kuijpers TW. Leukocyte adhesion deficiencies. Hematol Oncol Clin North Am 2013;27:101–16.
43. Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol 2014;26:454–70.
44. Paccaud Y, Berthet G, Von Scheven-Gête A, Vaudaux B, Mivelaz Y, Hofer M, et al. Neonatal treatment of CINCA syndrome. Pediatr Rheumatol Online J 2014;12:52.
45. Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, et al. A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset. Clin Immunol 2012;145:77–81.
46. Figueroa JE, Densen P. Infectious diseases associated with complement deficiencies. Clin Microbiol Rev 1991;4:359–95.
47. Mahmoudi M, Mollnes TE, Kuijpers TW, Roos D. Complement deficiencies. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Primary immunodeficiency diseases - definition, diagnosis, and management. Berlin: Springer; 2008. p. 235.
48. Kumar SK, Bhat BV. Distinct mechanisms of the newborn innate immunity. Immunol Lett 2016;173:42–54.
49. Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE. Newborn screening for severe combined immunodeficiency: a primer for clinicians. CMAJ 2017;189:E1551–7.
50. Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 1999;340:508–16.

APA	Özdemir Ö (2021). Primary immunodeficiency diseases in the newborn. , 405 - 413. 10.14744/nci.2020.43420
Chicago	Özdemir Öner Primary immunodeficiency diseases in the newborn. (2021): 405 - 413. 10.14744/nci.2020.43420
MLA	Özdemir Öner Primary immunodeficiency diseases in the newborn. , 2021, ss.405 - 413. 10.14744/nci.2020.43420
AMA	Özdemir Ö Primary immunodeficiency diseases in the newborn. . 2021; 405 - 413. 10.14744/nci.2020.43420
Vancouver	Özdemir Ö Primary immunodeficiency diseases in the newborn. . 2021; 405 - 413. 10.14744/nci.2020.43420
IEEE	Özdemir Ö "Primary immunodeficiency diseases in the newborn." , ss.405 - 413, 2021. 10.14744/nci.2020.43420
ISNAD	Özdemir, Öner. "Primary immunodeficiency diseases in the newborn". (2021), 405-413. https://doi.org/10.14744/nci.2020.43420

APA	Özdemir Ö (2021). Primary immunodeficiency diseases in the newborn. İstanbul Kuzey Klinikleri, 8(4), 405 - 413. 10.14744/nci.2020.43420
Chicago	Özdemir Öner Primary immunodeficiency diseases in the newborn. İstanbul Kuzey Klinikleri 8, no.4 (2021): 405 - 413. 10.14744/nci.2020.43420
MLA	Özdemir Öner Primary immunodeficiency diseases in the newborn. İstanbul Kuzey Klinikleri, vol.8, no.4, 2021, ss.405 - 413. 10.14744/nci.2020.43420
AMA	Özdemir Ö Primary immunodeficiency diseases in the newborn. İstanbul Kuzey Klinikleri. 2021; 8(4): 405 - 413. 10.14744/nci.2020.43420
Vancouver	Özdemir Ö Primary immunodeficiency diseases in the newborn. İstanbul Kuzey Klinikleri. 2021; 8(4): 405 - 413. 10.14744/nci.2020.43420
IEEE	Özdemir Ö "Primary immunodeficiency diseases in the newborn." İstanbul Kuzey Klinikleri, 8, ss.405 - 413, 2021. 10.14744/nci.2020.43420
ISNAD	Özdemir, Öner. "Primary immunodeficiency diseases in the newborn". İstanbul Kuzey Klinikleri 8/4 (2021), 405-413. https://doi.org/10.14744/nci.2020.43420