PMID- 23085892 OWN - NLM STAT- MEDLINE DCOM- 20130917 LR - 20151119 IS - 1536-4801 (Electronic) IS - 0277-2116 (Linking) VI - 56 IP - 4 DP - 2013 Apr TI - Human leukocyte antigen DQ2.2 and celiac disease. PG - 428-30 LID - 10.1097/MPG.0b013e31827913f9 [doi] AB - Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)-DQ2.5 in cis (DQA1*05:01, DQB1*02:01) or trans (DQA1*05:05, DQB1*02:02) configuration and HLA-DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA-distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA-DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA-DQ8. Interestingly, the 9 (5.8%) patients lacking HLA-DQ2.5 and HLA-DQ8 carried HLA-DQA1*02:01 and -DQB1*02:02 (HLA-DQ2.2). Therefore, HLA-DQ2.2 should be included as an important HLA-type related to CD. FAU - Mubarak, Amani AU - Mubarak A AD - Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands. A.Mubarak@umcutrecht.nl FAU - Spierings, Eric AU - Spierings E FAU - Wolters, Victorien AU - Wolters V FAU - van Hoogstraten, Ingrid AU - van Hoogstraten I FAU - Kneepkens, C M Frank AU - Kneepkens CM FAU - Houwen, Roderick AU - Houwen R LA - eng PT - Journal Article PL - United States TA - J Pediatr Gastroenterol Nutr JT - Journal of pediatric gastroenterology and nutrition JID - 8211545 RN - 0 (Biomarkers) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ alpha-Chains) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQ2 antigen) RN - 0 (HLA-DQ8 antigen) RN - 0 (HLA-DQA1 antigen) RN - 0 (HLA-DQB1 antigen) RN - 0 (Protein Isoforms) SB - IM MH - Alleles MH - Biomarkers/blood/metabolism MH - Celiac Disease/diagnosis/genetics/immunology/*metabolism MH - Child MH - Cohort Studies MH - Exons MH - Female MH - Genetic Association Studies MH - Genetic Predisposition to Disease MH - HLA-DQ Antigens/blood/genetics/*metabolism MH - HLA-DQ alpha-Chains/blood/genetics/*metabolism MH - HLA-DQ beta-Chains/blood/genetics/*metabolism MH - Humans MH - Leukocytes/immunology/*metabolism MH - Male MH - Netherlands MH - Prospective Studies MH - Protein Isoforms/blood/genetics/metabolism MH - Retrospective Studies EDAT- 2012/10/23 06:00 MHDA- 2013/09/18 06:00 CRDT- 2012/10/23 06:00 PHST- 2012/10/23 06:00 [entrez] PHST- 2012/10/23 06:00 [pubmed] PHST- 2013/09/18 06:00 [medline] AID - 10.1097/MPG.0b013e31827913f9 [doi] PST - ppublish SO - J Pediatr Gastroenterol Nutr. 2013 Apr;56(4):428-30. doi: 10.1097/MPG.0b013e31827913f9.