Bare Lymphocyte Syndrome (Type I)
The name bare lymphocyte syndrome (BLS) refers to the inability to perform a complete serological human leukocyte antigen (HLA) typing of blood lymphocytes, due to a defect in the expression of HLA molecules at the cell surface. Type I BLS corresponds to
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Contents Other Names . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Definition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Etiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 Clinical Manifestations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Diagnosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Management . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4
Syndrome OMIM number: #3604571 Affected Gene/Chromosome: TAP1, TAP2, TAPBP, B2M Gene OMIM number: 170260, 170261, 601962, 109700
Other Names • HLA class I deficiency • MHC class I deficiency
H. de la Salle INSERM UMR S1255, Strasbourg, France e-mail: [email protected] W. Reith (*) Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland e-mail: [email protected] © Springer Nature Switzerland AG 2020 N. Rezaei (ed.), Genetic Syndromes, https://doi.org/10.1007/978-3-319-66816-1_18-1
Definition The name bare lymphocyte syndrome (BLS) refers to the inability to perform a complete serological human leukocyte antigen (HLA) typing of blood lymphocytes, due to a defect in the expression of HLA molecules at the cell surface. Type I BLS corresponds to an HLA class I deficiency, whereas HLA class II molecules are expressed normally. The first confirmed case of BLS I was discovered in 1983 but retrospectively turned out to be clinically atypical, likely resulting from a transcriptional defect (Payne et al. 1983). The first representative case of BLS I was described in 1985; this adult was not immunodeficient but displayed chronic infections of the upper respiratory tract. A defect in the biochemical maturation of HLA class I molecules was also noted (Maeda
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et al. 1985). Scientific progress in the 1990s permitted elucidation of this syndrome. Mature HLA class I molecules are trimers consisting of a transmembrane heavy chain (HLA-A, -B, or -C), a soluble beta 2 microglobulin (β2m) chain, and a peptide, in general derived from the cytosolic proteolysis of proteins. Their assembly occurs in the lumen of the endoplasmic reticulum (ER) under control of a peptide-loading complex. The latter consists of the transporter associated with antigen processing (TAP), TAP-bind
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