Title of article :
Single Mutation Different Clinical Findings: IGLL1 Defect
Author/Authors :
Naiboğlu ، Sezin Pediatric Allergy and Immunology Clinic - University of Health Basaksehir Cam and Sakura City Hospital , Gezdirici ، Alper Department of Medical Genetic - University of Health Basaksehir Cam and Sakura City Hospital , Ulaş ، Selami Pediatric Allergy and Immunology Clinic - University of Health Basaksehir Cam and Sakura City Hospital , Turan ، Işılay Pediatric Allergy and Immunology Clinic - University of Health Basaksehir Cam and Sakura City Hospital , Çeliksoy ، Mehmet Halil Pediatric Allergy and Immunology Clinic - University of Health Basaksehir Cam and Sakura City Hospital , Aydoğmuş ، Çiğdem Department of Medical Genetic - University of Health Basaksehir Cam and Sakura City Hospital
Abstract :
Agammaglobulinemia is a rare inherited immunodeficiency disorder characterized by low or absent B cells with absent immunoglobulins. While X-linked agammaglobulinemia (XLA) is the most common type other genetic forms of agammaglobulinemia have been identified. During early childhood, passively transferred maternal Immunoglobulin G protects against various infections. The depletion of these antibodies begins between 6 and 12 months of age, resulting in recurrent sinusitis, bronchitis, and pneumonia in children with X-linked agammaglobulinemia. However, less common autosomal recessive forms of agammaglobulinemia present with more severe clinical features, leading to earlier diagnosis. Herein we present the case of a two-month-old male with IGLL1 gene defect and different clinical findings of family members with the same mutation.
Keywords :
Agammaglobulinemia , Autosomal recessive , Children , Non , bruton type
Journal title :
Iranian Journal of Allergy, Asthma and Immunology
Journal title :
Iranian Journal of Allergy, Asthma and Immunology
