Homozygous human TAP peptide transporter mutation in HLA class I deficiency.
Human lymphocyte antigen (HLA) class I proteins of the major histocompatibility complex are largely dependent for expression on small peptides supplied to them by transporter associated with antigen processing (TAP) protein. An inherited human deficiency in the TAP transporter was identified in two siblings suffering from recurrent respiratory bacterial infections. The expression on the cell surface of class I proteins was very low, whereas that of CD1a was normal, and the cytotoxicity of natural killer cells was affected. In addition, CD8+ alpha beta T cells were present in low but significant numbers and were cytotoxic in the most severely affected sibling, who also showed an increase in CD4+CD8+ T cells and gamma delta T cells.
de la Salle
H
H
Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, Strasbourg, France.
Hanau
D
D
Fricker
D
D
Urlacher
A
A
Kelly
A
A
Salamero
J
J
Powis
S H
SH
Donato
L
L
Bausinger
H
H
Laforet
M
M
D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D000293:Adolescent; D000595:Amino Acid Sequence; D015703:Antigens, CD / Q000032:analysis; D018949:Antigens, CD1; D001483:Base Sequence; D002352:Carrier Proteins / Q000032:analysis / Q000235:genetics*; D002648:Child; D005260:Female; D015395:Histocompatibility Antigens Class I / Q000032:analysis* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007694:Killer Cells, Natural / Q000276:immunology; D007801:Langerhans Cells / Q000276:immunology; D007958:Leukocyte Count; D008214:Lymphocytes / Q000276:immunology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016176:T-Lymphocyte Subsets / Q000276:immunology; D013602:T-Lymphocytes, Cytotoxic / Q000276:immunology
D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D015703:Antigens, CD; D018949:Antigens, CD1; D002352:Carrier Proteins; D015395:Histocompatibility Antigens Class I; C073119:TAP1 protein, human; C071692:TAP2 protein, human