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Nutritional status in pediatric patients with predominant antibody deficiency.
Biomedica
December 2024
Servicio de Inmunología Clínica y Alergia Pediátrica, HOMI Fundación Hospital Pediátrico de La Misericordia, Bogotá, D. C., Colombia.
Introduction: Predominant antibody deficiency is the most frequent group of innate immunity errors, but information about patients’ nutritional status is scarce.
Objectives: To characterize the nutritional status of Colombian patients with predominant antibody deficiencies.
Material And Methods: Material and methods.
Clinical and immunological features of four patients with activation-induced cytidine deaminase deficiency: Renal amyloidosis and other presentations.
Ann Hum Genet
January 2025
Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Introduction: Activation-induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and/or autoinflammation. AID plays an important role in immunoglobulin class switching and somatic hypermutation. AID deficiency patients have very low or absent levels of IgG, IgA, and IgE, while IgM level is elevated.
View Article and Find Full Text PDFType 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman.
BMJ Case Rep
March 2023
Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India.
We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels.
View Article and Find Full Text PDFPediatric Celiac Disease and Selective IgA Deficiency: Unexpected Sequence of Events.
J Clin Immunol
August 2022
Hans Christian Andersen Children's Hospital, Odense University Hospital, Kloevervaenget 23C, 5000, Odense C, Denmark.
Purpose: Selective IgA deficiency (IgAD) is the most common primary immunodeficiency, frequently leading to only minor clinical complaints. IgAD may be associated with autoimmune diseases such as celiac disease (CeD). Although IgAD is thought to precede CeD and autoimmunity, the association between the two conditions has not been clarified.
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