Common variable immunodeficiency in a patient with Noonan syndrome

Öner Özdemir; Ümmügülsüm Dikici; Ece Tüsüz Önata; Recep Polat

doi:10.5114/pja.2024.144895

eISSN: 2391-6052
ISSN: 2353-3854

Alergologia Polska - Polish Journal of Allergology

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abstract:

Case report

Common variable immunodeficiency in a patient with Noonan syndrome

Öner Özdemir

¹

,

Ümmügülsüm Dikici

¹

,

Ece Tüsüz Önata

¹

,

Recep Polat

²

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

Alergologia Polska – Polish Journal of Allergology

DOI: https://doi.org/10.5114/pja.2024.144895

Online publish date: 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.

keywords:

Common variable immunodeficiency in a patient with Noonan syndrome

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

common variable immunodeficiency, immunodeficiency, Noonan syndrome

Öner Özdemir

¹

,

Ümmügülsüm Dikici

¹

,

Ece Tüsüz Önata

¹

,

Recep Polat

²