Titre du document / Document title

Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers

Auteur(s) / Author(s)

PLEBANI A. ⁽¹⁾ ; MONAFO V. ⁽²⁾ ; CATTANEO R. ⁽³⁾ ; CARELLA G. ⁽³⁾ ; BRUGNONI D. ⁽³⁾ ; FACCHETTI F. ⁽⁴⁾ ; BATTOCCHIO S. ⁽⁴⁾ ; MEINI A. ⁽⁵⁾ ; NOTARANGELO L. D. ⁽⁵⁾ ; DUSE M. ⁽⁵⁾ ; UGAZIO A. G. ⁽⁵⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Department of Pediatrics, Institute G. Gaslini, University of Genova, ITALIE
⁽²⁾ Department of Pediatrics, University of Pavia, ITALIE
⁽³⁾ Clinical Immunology Service, University of Brescia, ITALIE
⁽⁴⁾ Department of Pathology, University of Brescia, ITALIE
⁽⁵⁾ Department of Pediatrics, University of Brescia, ITALIE

Résumé / Abstract

We report the case of a boy with low expression of HLA class I molecules on peripheral blood mononuclear cells, which is associated with immunodeficiency. The patient, who had a Marfan-like phenotype, had chronic deep skin ulcers and sinobronchiectasis. Immunohistologic examination of the ulcerated skin showed a dense perivascular infiltrate composed of normal mature lymphocytes and macrophages. All cells in the infiltrate showed an apparently normal expression of HLA class I molecules, but intraepidermal dendritic Langerhans' cells were negative for CD1a, an antigen that is a highly specific marker for these cells and is abundantly expressed in some self-healing forms of cutaneous lesions. It is therefore speculated that a defective expression of CD1a molecules can contribute to the chronic persistence of deep skin ulcers, which have already been reported in association with defective expression of HLA class I molecules.

Revue / Journal Title

Journal of the American Academy of Dermatology   ISSN 0190-9622   CODEN JAADDB 

Source / Source

1996, vol. 35 (2), n^o5, pp. 814-818 (15 ref.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, New York, NY, ETATS-UNIS  (1979) (Revue)

Mots-clés anglais / English Keywords

Marfan syndrome ; Phenotype ; Adolescent ; Male ; Ulcer ; Leg ; Syndrome ; Bronchiectasis ; Dilatation ; Paranasal sinus ; Immune deficiency ; Association ; HLA-System ; Class I histocompatibility antigen ; Major histocompatibility system ; Lower limb ; Human ; Elastic tissue disease ; Connective tissue disease ; Genetic disease ; Systemic disease ; Congenital disease ; Skin disease ; Bronchus disease ; Respiratory disease ; Paranasal sinus disease ; Immunopathology ;

Mots-clés français / French Keywords

Marfan syndrome ; Phénotype ; Adolescent ; Mâle ; Ulcère ; Jambe ; Syndrome ; Bronchectasie ; Dilatation ; Sinus face ; Immunodéficit ; Association ; Système HLA ; Antigène histocompatibilité classe I ; Système histocompatibilité majeur ; Membre inférieur ; Homme ; Tissu élastique pathologie ; Tissu conjonctif pathologie ; Maladie héréditaire ; Maladie système ; Maladie congénitale ; Peau pathologie ; Bronche pathologie ; Appareil respiratoire pathologie ; Sinus face pathologie ; Immunopathologie ;

Mots-clés espagnols / Spanish Keywords

Marfan síndrome ; Fenotipo ; Adolescente ; Macho ; Ulcera ; Pierna ; Síndrome ; Bronquiectasia ; Dilatación ; Seno paranasal ; Inmunodeficiencia ; Asociación ; Sistema HLA ; Antígeno histocompatibilidad clase I ; Sistema histocompatibilidad mayor ; Miembro inferior ; Hombre ; Tejido elástico patología ; Tejido conjuntivo patología ; Enfermedad hereditaria ; Enfermedad sistémica ; Enfermedad congénita ; Piel patología ; Bronquio patología ; Aparato respiratorio patología ; Seno paranasal patología ; Inmunopatología ;

Localisation / Location

INIST-CNRS, Cote INIST : 18387, 35400006701222.0050