Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose
Yıl: 2023 Cilt: 21 Sayı: 1 Sayfa Aralığı: 64 - 67 Metin Dili: İngilizce DOI: 10.21911/aai.073 İndeks Tarihi: 07-07-2023
Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose
Öz: Hyper IgM syndrome (HIGM) is a rare primary immunodeficiency (PID) characterized by low IgG and IgA and normal or high IgM levels. The AICDA gene mutations lead to HIGM, the most prevalent autosomal recessive HIGM with intrinsic B cell defects. We present a patient with recurrent otitis media complicated by tympanic membrane perforation who was diagnosed with HIGM syndrome due to a novel mutation in the AICDA gene. Despite the fact that the symptoms began in early childhood, the patient was diagnosed seven years later, when complications developed. First-line immunological examination using serum immunoglobulin levels and antibody responses can rapidly detect antibody deficiencies. Keeping primary antibody deficiencies in mind in patients with recurrent sinopulmonary infections may contribute to an early diagnosis and prevention of complications. Being aware is the most important step in detecting PIDs.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | Özdemiral C, Esenboğa S, bildik h, Çağdaş D, Tezcan İ (2023). Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. , 64 - 67. 10.21911/aai.073 |
| Chicago | Özdemiral Cansu,Esenboğa Saliha,bildik hacer neslihan,Çağdaş Deniz,Tezcan İlhan Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. (2023): 64 - 67. 10.21911/aai.073 |
| MLA | Özdemiral Cansu,Esenboğa Saliha,bildik hacer neslihan,Çağdaş Deniz,Tezcan İlhan Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. , 2023, ss.64 - 67. 10.21911/aai.073 |
| AMA | Özdemiral C,Esenboğa S,bildik h,Çağdaş D,Tezcan İ Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. . 2023; 64 - 67. 10.21911/aai.073 |
| Vancouver | Özdemiral C,Esenboğa S,bildik h,Çağdaş D,Tezcan İ Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. . 2023; 64 - 67. 10.21911/aai.073 |
| IEEE | Özdemiral C,Esenboğa S,bildik h,Çağdaş D,Tezcan İ "Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose." , ss.64 - 67, 2023. 10.21911/aai.073 |
| ISNAD | Özdemiral, Cansu vd. "Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose". (2023), 64-67. https://doi.org/10.21911/aai.073 |
| APA | Özdemiral C, Esenboğa S, bildik h, Çağdaş D, Tezcan İ (2023). Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. Astım Allerji İmmünoloji, 21(1), 64 - 67. 10.21911/aai.073 |
| Chicago | Özdemiral Cansu,Esenboğa Saliha,bildik hacer neslihan,Çağdaş Deniz,Tezcan İlhan Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. Astım Allerji İmmünoloji 21, no.1 (2023): 64 - 67. 10.21911/aai.073 |
| MLA | Özdemiral Cansu,Esenboğa Saliha,bildik hacer neslihan,Çağdaş Deniz,Tezcan İlhan Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. Astım Allerji İmmünoloji, vol.21, no.1, 2023, ss.64 - 67. 10.21911/aai.073 |
| AMA | Özdemiral C,Esenboğa S,bildik h,Çağdaş D,Tezcan İ Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. Astım Allerji İmmünoloji. 2023; 21(1): 64 - 67. 10.21911/aai.073 |
| Vancouver | Özdemiral C,Esenboğa S,bildik h,Çağdaş D,Tezcan İ Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose. Astım Allerji İmmünoloji. 2023; 21(1): 64 - 67. 10.21911/aai.073 |
| IEEE | Özdemiral C,Esenboğa S,bildik h,Çağdaş D,Tezcan İ "Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose." Astım Allerji İmmünoloji, 21, ss.64 - 67, 2023. 10.21911/aai.073 |
| ISNAD | Özdemiral, Cansu vd. "Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose". Astım Allerji İmmünoloji 21/1 (2023), 64-67. https://doi.org/10.21911/aai.073 |
