Single Mutation different Clinical Findings: IGLL1 Defect

Sezin Naiboğlu; Alper Gezdirici; Selami Ulaş; Işılay Turan; Mehmet Halil Çeliksoy; Çiğdem Aydoğmuş

doi:10.18502/ijaai.v23i4.16218

Sezin Naiboğlu Pediatric Allergy and Immunology Clinic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey
Alper Gezdirici Department of Medical Genetic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey
Selami Ulaş Pediatric Allergy and Immunology Clinic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey
Işılay Turan Pediatric Allergy and Immunology Clinic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey
Mehmet Halil Çeliksoy Pediatric Allergy and Immunology Clinic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey
Çiğdem Aydoğmuş Pediatric Allergy and Immunology Clinic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey

DOI: https://doi.org/10.18502/ijaai.v23i4.16218

Keywords: Agammaglobulinemia; Autosomal recessive; Children; Non-bruton type

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.