Common variable immunodeficiency in a patient with Noonan syndrome
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 defe...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-11-01
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| Series: | Alergologia Polska |
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| Online Access: | https://www.termedia.pl/Common-variable-immunodeficiency-in-a-patient-with-Noonan-syndrome,123,55108,1,1.html |
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| _version_ | 1850032489629745152 |
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| author | Öner Özdemir Ümmügülsüm Dikici Ece Tüsüz Önata Recep Polat |
| author_facet | Öner Özdemir Ümmügülsüm Dikici Ece Tüsüz Önata Recep Polat |
| author_sort | Öner Özdemir |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8d6f468556c442bca6fb6f062988b0da |
| institution | DOAJ |
| issn | 2353-3854 2391-6052 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Alergologia Polska |
| spelling | doaj-art-8d6f468556c442bca6fb6f062988b0da2025-08-20T02:58:37ZengTermedia Publishing HouseAlergologia Polska2353-38542391-60522024-11-01121747810.5114/pja.2024.14489555108Common variable immunodeficiency in a patient with Noonan syndromeÖner ÖzdemirÜmmügülsüm DikiciEce Tüsüz ÖnataRecep PolatNoonan 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.https://www.termedia.pl/Common-variable-immunodeficiency-in-a-patient-with-Noonan-syndrome,123,55108,1,1.htmlcommon variable immunodeficiency immunodeficiency noonan syndrome |
| spellingShingle | Öner Özdemir Ümmügülsüm Dikici Ece Tüsüz Önata Recep Polat Common variable immunodeficiency in a patient with Noonan syndrome Alergologia Polska common variable immunodeficiency immunodeficiency noonan syndrome |
| title | Common variable immunodeficiency in a patient with Noonan syndrome |
| title_full | Common variable immunodeficiency in a patient with Noonan syndrome |
| title_fullStr | Common variable immunodeficiency in a patient with Noonan syndrome |
| title_full_unstemmed | Common variable immunodeficiency in a patient with Noonan syndrome |
| title_short | Common variable immunodeficiency in a patient with Noonan syndrome |
| title_sort | common variable immunodeficiency in a patient with noonan syndrome |
| topic | common variable immunodeficiency immunodeficiency noonan syndrome |
| url | https://www.termedia.pl/Common-variable-immunodeficiency-in-a-patient-with-Noonan-syndrome,123,55108,1,1.html |
| work_keys_str_mv | AT onerozdemir commonvariableimmunodeficiencyinapatientwithnoonansyndrome AT ummugulsumdikici commonvariableimmunodeficiencyinapatientwithnoonansyndrome AT ecetusuzonata commonvariableimmunodeficiencyinapatientwithnoonansyndrome AT receppolat commonvariableimmunodeficiencyinapatientwithnoonansyndrome |