eISSN: 2391-6052
ISSN: 2353-3854
Alergologia Polska - Polish Journal of Allergology
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Opis przypadku

Common variable immunodeficiency in a patient with Noonan syndrome

Öner Özdemir
1
,
Ümmügülsüm Dikici
1
,
Ece Tüsüz Önata
1
,
Recep Polat
2

  1. Division of Allergy and Immunology, Department of Pediatrics, Research and Training Hospital of Sakarya University Medical Faculty, Adapazarı, Sakarya, Türkiye
  2. Division of Pediatric Endocrinology, Research and Training Hospital of Sakarya University Medical Faculty, Adapazarı, Sakarya, Türkiye
Alergologia Polska – Polish Journal of Allergology
Data publikacji online: 2024/11/09
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Noonan syndrome is a disease that occurs in 1 in 1,000–2,500 live births, mostly inherited in an autosomal dominant manner. Noonan syndrome is a clinically and genetically heterogeneous disease that may be accompanied by growth retardation, prominent facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies, bleeding diathesis, ectodermal anomalies, lymphatic dysplasias, cryptorchidism, and cognitive disorders. Some of the patients with NS may experience various clinical issues related to immunodeficiency, such as recurrent infections. This article discusses a very rarely seen case of a 15-year-old male patient with Noonan syndrome having common variable immunodeficiency disease.


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