Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.
CD18
inborn error of immunity
infections
leukocyte adhesion deficiency type-1
leukocytosis
Journal
Allergologia et immunopathologia
ISSN: 1578-1267
Titre abrégé: Allergol Immunopathol (Madr)
Pays: Singapore
ID NLM: 0370073
Informations de publication
Date de publication:
2023
2023
Historique:
received:
18
05
2023
accepted:
04
08
2023
medline:
9
11
2023
pubmed:
8
11
2023
entrez:
8
11
2023
Statut:
epublish
Résumé
Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking. 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. 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. 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.
Sections du résumé
BACKGROUND
BACKGROUND
Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking.
METHODS
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
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
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.
Identifiants
pubmed: 37937501
doi: 10.15586/aei.v51i6.914
doi:
Substances chimiques
CD18 Antigens
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
89-96Déclaration de conflit d'intérêts
The authors declared no conflict of interest.
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