Author/Editor		de la Salle, Henri; Hanau, Daniel; Fricker, Dominique; Urlacher, Arelette; Kelly, Adrian; Salamero, Jean; Powis, Stephen H; Donato, Lionel; Bausinger, Huguette; Jeras, Matjaž
Title		Homozygous human TAP peptide transporter mutation in HLA class I deficiency
Type		članek
Source		Science
Vol. and No.		Letnik 265
Publication year		1994
Volume		str. 237-41
Language		eng
Abstract		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 gama delta T cells.
Descriptors		HISTOCOMPATIBILITY ANTIGENS CLASS I IMMUNOLOGIC DEFICIENCY SYNDROMES CARRIER PROTEINS LYMPHOCYTES AMINOACID SEQUENCE ANTIGENS CD BASE SEQUENCE HOMOZYGOTE KILLER CELLS, NATURAL LANGERHANS CELLS LEUKOCYTE COUNT MOLECULAR SEQUENCE DATA MUTATION T-LYMPHOCYTE SUBSETS T-LYMPHOCYTES, CYTOTOXIC