Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers.
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.
Plebani
A
A
Department of Pediatrics, Institute G. Gaslini, University of Genova, Italy.
Monafo
V
V
Cattaneo
R
R
Carella
G
G
Brugnoni
D
D
Facchetti
F
F
Battocchio
S
S
Meini
A
A
Notarangelo
L D
LD
Duse
M
M
Ugazio
A G
AG
D000293:Adolescent; D018949:Antigens, CD1 / Q000096:biosynthesis*; D005786:Gene Expression Regulation; D006680:HLA Antigens / Q000096:biosynthesis*; D006801:Humans; D007871:Leg Ulcer / Q000150:complications / Q000276:immunology*; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics / Q000276:immunology*; D010641:Phenotype
D018949:Antigens, CD1; D006680:HLA Antigens