Objectives: The presence of HLA-DBQ1* 0301 allele in an Egyptian patient with oral pemphigoid and six of his family members was investigated.
Background: Oral pemphigoid is a variant of vesiculobullous mucous membrane pemphigoid with an immunogenetic predisposition related to defects in major histocompatibility complex (OMIM 604305), HLA-DQB 1 alleles.
Methods: High resolution typing of HLA-DQB 1*0301 allele was carried out for the seven members of an Egyptian family including the child affected with oral pemphigoid.
Results: Both parents and three children including the proband were found to be carriers for the studied allele, while the other two children were not.
Conclusion: Participation of HLA-DBQ1*0301 allele was not informative for both susceptibility and/or phenotypic expression of the disease within the studied family (Fig. 2, Ref. 31).