| immunodeficiëntie door verstoorde expressie van humaan leukocytenantigeen klasse 1 (aandoening) |
| immunodeficiëntie door verstoorde expressie van humaan leukocytenantigeen klasse 1 |
| 'bare-lymphocyte syndrome' type 1
immuundeficiëntie door defect in expressie van HLA klasse 1
|
 | Dit betekent dat je niet genoeg van bepaalde afweerstoffen in je lichaam hebt. Daarom ben je minder goed beschermd tegen ziektes. Dit komt door een fout in je DNA. |
| Major histocompatibility complex class I deficiency |
| Bare lymphocyte syndrome type I
Immunodeficiency by defective expression of major histocompatibility complex class I
Immunodeficiency by defective expression of human leukocyte antigen class I
Immunodeficiency by defective expression of human leukocyte antigen class 1
MHC (major histocompatibility complex) class I deficiency
Immunodeficiency by defective expression of HLA (human leukocyte antigen) class 1
Bare lymphocyte syndrome type 1
|
| A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile necrotizing granulomatous skin lesions mainly involving the extremities and the mid-face may be observed in some patients. Severe viral infections do not occur as part of the condition. Atypical variants without respiratory or cutaneous manifestations, as well as asymptomatic individuals have been reported. |
