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New molecular basis associated with CD36-negative phenotype in the sub-Saharan African population.
Le Toriellec, Emilie; Muralitharan, Vintuya; Chadebech, Philippe; Jouard, Alicia; Ansart-Pirenne, Hélène; Pirenne, France; Tournamille, Christophe; Croisille, Laure.
Afiliação
  • Le Toriellec E; Etablissement Français du Sang (EFS) Ile-de-France, Créteil, France.
  • Muralitharan V; Laboratoire HLA, Département d'Immunologie Leucoplaquettaire, Créteil, France.
  • Chadebech P; Etablissement Français du Sang (EFS) Ile-de-France, Créteil, France.
  • Jouard A; Etablissement Français du Sang (EFS) Ile-de-France, Créteil, France.
  • Ansart-Pirenne H; Inserm U955 Equipe 2 Transfusion et Maladies du Globule Rouge, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France.
  • Pirenne F; Laboratory of Excellence GR-Ex, Paris, France.
  • Tournamille C; Etablissement Français du Sang (EFS) Ile-de-France, Créteil, France.
  • Croisille L; Inserm U955 Equipe 2 Transfusion et Maladies du Globule Rouge, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France.
Transfusion ; 60(11): 2482-2488, 2020 11.
Article em En | MEDLINE | ID: mdl-32949421
BACKGROUND: CD36 glycoprotein is expressed by various cell types, including platelets (PLTs), monocytes, and erythroid precursors, and is also the receptor for several ligands. However, absence of CD36 expression seems asymptomatic and is poorly described in Caucasians. In contrast, the frequency reaches 7% and 11% in African Caribbean and Asian persons, respectively. Lack of CD36 expression exposes to the risk of immunization in case of pregnancy or PLT transfusion. Two types of deficiency have been described: in Type I, PLTs and monocytes lack CD36 expression and the subjects are homozygous or compound heterozygous for CD36 mutations, whereas in Type II, only PLTs (Type IIa), and rarely also erythroid cells (Type IIb), are affected. Molecular events leading to Type II deficiency are poorly understood. CASE REPORT: An African girl, diagnosed with homozygous sickle cell disease and regularly transfused, was assessed for PLT CD36 expression by immunofluorescence microscopy. The deficiency was then confirmed by monoclonal antibody immobilization of PLT antigen (MAIPA) assay, and the subtype was assessed by flow cytometry. The underlying molecular basis was characterized by DNA sequencing. Furthermore, we tested the serum for possible anti-CD36 immunization. RESULTS AND CONCLUSION: Flow cytometric analysis on the patient's blood samples allowed the diagnosis of Type I CD36 deficiency. CD36 antibodies, probably due to her past history of red blood cell transfusions, were identified by MAIPA and by Luminex technology assay. Interestingly, we identified through sequencing a new molecular basis involved in CD36 deficiency: two adenines were replaced by one guanine in Exon 4 (c.367_368delAAinsG) leading to a stop codon at Position 76.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Éxons / Códon de Terminação / Antígenos CD36 / Mutação INDEL / Anemia Falciforme Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans País/Região como assunto: Africa Idioma: En Revista: Transfusion Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Éxons / Códon de Terminação / Antígenos CD36 / Mutação INDEL / Anemia Falciforme Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans País/Região como assunto: Africa Idioma: En Revista: Transfusion Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França