Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1

• Elma Isela Fuentes-Lara ^[1] ; Gabriel Emmanuel Arce-Estrada ^[1] ; Abner Bojalil-Cabildo ^[1] ; Marco Antonio Yamazaki-Nakashimada ^[1] ; Sara Elva Espinosa-Padilla ^[1] ; Luisa Berenise Gamez-Gonzalez ^[2] ; Rosa María Nideshda Ramirez-Uribe ^[1] ; Omar Josue Saucedo-Ramirez ^[1] ; Laura Berron-Ruiza ^[1]
  1. [1] Instituto Nacional de Pediatria

     Instituto Nacional de Pediatria

     México

     
  2. [2] Hospital Infantil de Especialidades de Chihuahua, Chihuahua, México
• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 51, Nº. 6, 2023, págs. 89-96
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • 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.