Immunodeficiency in a case diagnosed with Smith-Magenis
syndrome

Lütfi Kılınçkaya; Öner Özdemir

doi:10.5114/pja.2026.159583

eISSN: 2391-6052
ISSN: 2353-3854

Alergologia Polska - Polish Journal of Allergology

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1/2026
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Case report

Immunodeficiency in a case diagnosed with Smith-Magenis syndrome

Lütfi Kılınçkaya

¹

,

Öner Özdemir

¹

Division of Allergy and Immunology, Department of Pediatrics, Research and Training Hospital of Sakarya, Sakarya University Medical Faculty, Adapazarı, Sakarya, Türkiye

Alergologia Polska – Polish Journal of Allergology 2026; 13, 1: 54–57

DOI: https://doi.org/10.5114/pja.2026.159583

Online publish date: 2026/02/27

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1. Gamba BF, Vieira GH, Souza DH, et al. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. Genet Mol Res 2011; 10: 2664-70.

2. Spadoni E, Colapietro P, Bozzola M, et al. Smith-Magenis syndrome and growth hormone deficiency. Eur J Pediatr 2004; 163: 353-8.

3. Perkins T, Rosenberg JM, Le Coz C, et al. Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies. J Allergy Clin Immunol Pract 2017; 5: 1344-50.

4. Thomas DG, Jacques SM, Flore LA, et al. Prenatal diagnosis of Smith-Magenis Syndrome (del 17p11.2). Fetal Diagn Ther 2000; 15: 335-7.

5. Goldman AM, Potocki L, Walz K, et al. Topical review: epilepsy and chromosomal rearrangements in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. J Child Neurol 2006; 21: 93-8.

6. De Leersnyder H, De Blois MC, Claustrat B, et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 2001; 139: 111-6.

7. Vlangos CN, Wilson M, Blancato J, et al. Diagnostic FISH probes for del (17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A 2005; 132A: 278-82.

8. Aksu G, Genel F, Koturoğlu G, et al. Serum immunoglobulin(IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr 2005; 47: 19-24.

9. Besci Ö, Başer D, Öğülür İ, et al. Reference values for T and B lymphocyte subpopulations in Turkish children and adults. Turk J Med Sci 2021; 51: 1814-24.

Copyright: © Polish Society of Allergology This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No Derivatives 4.0 International (CC BY-NC-SA 4.0). License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.

Immunodeficiency in a case diagnosed with Smith-Magenis syndrome

Lütfi Kılınçkaya 1 , Öner Özdemir 1

Lütfi Kılınçkaya

¹

,

Öner Özdemir

¹