Leukocyte adhesion defect-I: rare primary immune deficiency.
Аннотация
Leukocyte adhesion defect I is a rare disorder (1:1,000,000) caused by diminished expression of CD-18 β2 integrins on leukocytes leading to abnormal adhesion, migration, and chemotaxis. Clinical manifestations include delayed separation of umbilical cord, omphalitis, recurrent severe infections, impaired wound healing, persistent oral ulcers, and severe periodontitis in primary and permanent dentition. A 5-year-old girl, second-born child to parents with consanguinity, presented with pain and mobility of lower teeth. There was history of recurrent infections and multiple hospital admissions with CD18 level-3% and frame shift mutation in ITGB2, on 21q22.3. There were scars on hands and feet. Oral examination revealed multiple missing teeth and periodontitis in primary dentition. Oral prophylaxis and palliative treatments were performed with periodic follow-ups. Interdisciplinary care is ubiquitous for patients with immune deficiencies. Early consultation with pediatric dentists and exploration of medical history is essential for diagnosis and treatment of rare diseases.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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