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.

Susceptibility to relapsing polychondritis is associated with HLA-DR4.

Objective: To determine the frequency of HLA class II antigens in Caucasian central European patients with relapsing polychondritis (RP).

Methods: HLA class I, DR, and DQ specificities were identified in 41 patients with RP, and the frequencies were compared with those in 204 healthy, unrelated control subjects. HLA typing was performed using the standard complement-dependent microcytotoxicity assay.

A new DR14 allele (DRB1*1411) containing a short DR11 sequence and its haplotypic association.

In the present work, we describe a new DR14 allele. Sequencing of its second DRB1 exon showed it to be DRB1*1404 from codon numbers 9 to 56 and 61 to 86, and DRB1*11 from codons 57 to 60 inclusive.

Establishment and characterization of B-like lymphoblastoid cell lines by long-term culture of primary explants from human myasthenic thymus.

Using a simple method of long-term culture, it was possible to obtain B-like lymphoblastoid cell lines (LyCLs) from myasthenic thymuses. Successful cultures were carried out from 14 out of 15 hyperplastic thymuses and in 1 out of 3 myasthenic thymoma, whereas none of the 8 control thymuses, nor the 2 Myasthenia gravis-associated normally involuted thymuses, nor the Myasthenia gravis-associated lymphoma gave rise to LyCL. All the LyCLs secreted immunoglobulins (Ig), either IgG or IgM.