Marco Colonna obtained an MD from the University of Parma in 1983, later specializing in Internal Medicine. He was introduced to the field of Immunology and Immunogenetics as a postdoctoral research fellow in the laboratory of GB Ferrara in Genova, before moving to the Roswell Park Memorial Institute in Buffalo, NY, and thereafter to the laboratory of Jack Strominger at Harvard University in Boston. He subsequently worked as a permanent member at the Basel Institute for Immunology before returning to the United States in 2001 as Professor of Pathology and Immunology at Washington University in St. Louis, MO, he has remained ever since. Marco has made groundbreaking contributions to our understanding of innate immunity, including first unraveling the mechanism of natural killer (NK) cell alloreactivity by identifying killer cell immunoglobulin-like receptors (KIRs) and HLA-C and HLA-B polymorphisms as their inhibitory ligands. Focusing on innate immune receptors, he later identified the leukocyte immunoglobulin-like receptors (LILRs) and triggering receptors expressed by myeloid cells (TREMs). Through analysis of the cellular distribution of these receptors, his laboratory identified plasmacytoid dendritic cells and, more recently, innate lymphoid cells. His outstanding work in Histocompatibility and Immunogenetics was honored by the Ceppellini Award from the European Federation for Immunogenetics in 2014.
HLA‐DQB1*06:126 differs from HLA‐DQB1*06:02:01 by a nonsynonymous C to T substitution at nucleotide position 1621 in Exon 2.
Description of three novel RAET1E/ULBP4 allele and promoter polymorphisms identified by sequence‐based typing.
Rapid desensitisation of anti-HLA antibodies using the IgG degrading enzyme IdeS in sensitized patients with chronic kidney disease
Genes from the HLA complex have a major contribution in type 1 diabetes (T1D), which results from an interplay between environmental and genetic factors. The latter can explain some of the geographic variability in T1D occurrence around the world. Of a particular importance in this regard are the HLA‐DR, ‐DP and ‐DQ loci. Consequently, we aimed at elucidating the collective genetic profiles of various alleles relating to HLA‐DRB1 and ‐DP in T1D patients throughout the Arab World using the tools of meta‐analysis. As for HLA‐DQA1 and DQB1 alleles; this analysis was completed and published previously (see Introduction). As a result of limited availability of relevant studies of the HLA‐DP locus, only HLA‐DRB1 alleles were tackled in this paper. Our study showed that significant increases in T1D risk resulted from harboring the alleles DRB1*03:01 and *04:05 (odds ratio 7.76 and 7.52, respectively). DRB1*04:01 and *04:02 were also predisposing for T1D in Arabs. Very strong evidence supported the protective effects of DRB1*10:01, *13:01, *15:02 and *16:01, with low heterogeneity and no publication bias. The results from the series of meta‐analyses performed in this study help to complete the global genetic epidemiological map of T1D by providing statistically robust data from the Arab World.
Immunogenetic studies have suggested that autoantibody production is commonly associated with particular human leukocyte antigens ( HLA ) class II genotypes in certain autoimmune diseases. The objective of this study was to investigate whether the production of anti‐β 2 ‐glycoprotein I antibody ( aβ 2 GPI ) was associated with particular HLA‐DQ alleles in patients with recurrent miscarriage ( RM ). The HLA‐DQ genotypes in 126 patients with RM were determined using the polymerase chain reaction‐sequence‐specific primer method. Both the IgG and IgM isotypes of aβ 2 GPI were measured via enzyme‐linked immunosorbent assay. Positive results for either IgG or IgM on two occasions within an interval of 12 weeks were defined as antiphospholipid antibody‐positive. The frequencies of the HLA‐DQA1 *01:02 [odds ratio ( OR ) 3.4, 95% confidence interval ( CI ) 1.6–7.0, P c = 0.018] and HLA‐DQB1 *02:01 alleles ( OR 4.6, 95% CI 2.1–10.2, P c = 9.18 × 10 −4 ) were significantly increased in aβ 2 GPI ‐positive RM patients compared with aβ 2 GPI ‐negative RM patients. These results suggest that the HLA‐DQA1 *0102 and HLA‐DQB1 *0201 alleles may be involved in the production of aβ 2 GPI in RM patients.
The novel allele HLA‐A*02:544 has two nucleotide changes from its most closely related allele, HLA‐A*02:148. Firstly at nucleotide 255 where C → T (codon 60 GAC → GAT), resulting in a non‐coding change as GAC and GAT both code for the same amino acid aspartic acid. Secondly at nucleotide 368 where T → G (codon 98 TTT → TGT) resulting in a coding change, 98 phenylalanine is changed to cysteine.
One nucleotide substitution at residue 367 of HLA-DRB1*08:03:02 results in a new allele, HLA-DRB1*08:71.
The novel allele HLA-DRB1*15:115N differs from HLA-B*15:80N by a nucleotide substitution at position 227 T > A.
Three novel HLA-DQB1 alleles were found after sequence-based typing of 3558 random UK European routine blood donors.
HLA‐B*15:263 differs from HLA‐B*15:18:01 by a single nucleotide exchange at position 824, C>G (codon 251 TCT>TGT).
One nucleotide replacement in codon 17 (CGC>CAC) of HLA‐A*33:03:01 results in a novel allele, HLA‐A*33:95.
HLA*02:06:14 differs from HLA‐A*02:06:01 by a single nucleotide substitution G > A at position 246.
AbstractThe new allele B*39:01:15 differs from B*39:01:01 by a point mutation at position 315 (G>T) of exon 2.
One nucleotide substitution at residue 531 of HLA-B*15:01:01:01 results in a new allele, HLA-B*15:01:37.
Hypersensitivity reaction to abacavir (ABC hypersensitivity syndrome, AHS) is strongly associated with the presence of the HLA-B*57:01 allele. This study was designed to estimate the prevalence of HLA-B*57:01 allele in Argentinean HIV-1 infected patients. We analyzed the presence of HLA-B*57:01 allele in 1646 HIV-1 infected patients from different regions of Argentina. This allele was detected in 81 patients; most of them corresponded to patients living in the central region of the country. The prevalence of HLA-B*57:01 was 4.9%, similar to other Caucasian populations and higher than other data reported for South American populations. This strongly supports screening for the presence of HLA-B*57:01 in abacavir treatment of HIV-1 in our country.
The novel HLA-B*40:229 allele shows one nucleotide difference from B*40:02:01 in exon 2 at nucleotide position 97 (C → T).
HLA‐C*12:138 differs from HLA‐C*12:03:01:01 by a single change, resulting in an amino acid substitution.
