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: Hyper IgM Syndrome recurrent otitis media primary immunodeficiency AICDA gene

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