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2.
Allergol Immunopathol (Madr) ; 51(6): 89-96, 2023.
Article de Anglais | MEDLINE | ID: mdl-37937501

RÉSUMÉ

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.


Sujet(s)
Antigènes CD18 , Déficit d'adhérence leucocytaire , Humains , Antigènes CD18/métabolisme , Mexique , Déficit d'adhérence leucocytaire/diagnostic , Leucocytes
3.
Pediatr Allergy Immunol Pulmonol ; 36(3): 119-121, 2023 09.
Article de Anglais | MEDLINE | ID: mdl-37466470

RÉSUMÉ

The etiology of Kawasaki disease (KD) and its precise genetic basics remain unknown. Genetic variants affecting immunity have been found in some patients. The occurrence of KD in siblings is rare, but KD pedigrees with multiple affected members have been described in Japan and North America. Cases in twins have been documented. We report 2 pairs of trizygotic triplets who developed KD associated with SARS-CoV2 infection from 2 different families. Our cases show that KD is multifactorial in origin, and both infectious etiology (particularly SARS-CoV2 as in our cases) and genetic factors are relevant in the disease.


Sujet(s)
COVID-19 , Maladies transmissibles , Maladie de Kawasaki , Humains , Maladie de Kawasaki/complications , Maladie de Kawasaki/diagnostic , Maladie de Kawasaki/génétique , COVID-19/complications , ARN viral , SARS-CoV-2/génétique , Maladies transmissibles/complications
4.
Allergol. immunopatol ; 51(6): 89-96, 2023. ilus, graf, tab
Article de Anglais | IBECS | ID: ibc-227312

RÉSUMÉ

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 (AU)


Sujet(s)
Humains , Mâle , Femelle , Nourrisson , Antigènes CD18/métabolisme , Déficit d'adhérence leucocytaire/diagnostic , Leucocytes/immunologie , Marqueurs biologiques , Mexique
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