期刊
ALLERGOLOGIA ET IMMUNOPATHOLOGIA
卷 51, 期 6, 页码 89-96出版社
CODON PUBLICATIONS
DOI: 10.15586/aei.v51i6.914
关键词
CD18; inborn error of immunity; infections; leukocyte adhesion deficiency type-1; leukocytosis
This study reports the clinical and immunological characteristics of six Mexican patients diagnosed with LAD-1, highlighting atypical manifestations not described in other countries and emphasizing the importance of flow cytometry in the diagnosis of LAD-1.
Background: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking. Methods: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed. Results: We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms. Conclusions: Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country. (c) 2023 Codon Publications. Published by Codon Publications.
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