Using immunofluorescence (antigen) mapping in the diagnosis and XXXX : a first report from Iran.

@entity1 @entity13939 @entity4530 @entity2639 @entity2640 @entity4240 @entity24507 @entity4205 @entity71462 @entity71463 @entity6881
BACKGROUND: Immunofluorescence antigen mapping (IFM), is a newly introduced technique for diagnosis and @entity2640 (EB) disease. The precise level of skin cleavage can be determined using monoclonal antibodies to EB-specific basement membrane zone protein. OBJECTIVE: To apply IFM technique in diagnosis and classification of EB and to identify utility and limitation of this method in our clinical setting. METHODS: IFM was done according to a described protocol by Pohla-Gubo et al. Monoclonal antibodies used for antigen mapping were against @entity4205 , @entity6881 , a6 integrin, b4 integrin, laminin 332, Collagen IV, and Collagen VII. RESULTS: IFM was done for 95 referred @entity1 , compromising 49 females and 46 males, aged 5 days to 45 years (mean = 9.5 years). Ninety cases were diagnosed with EB and classified as follows: EB simplex: (n = 13), junctional EB (n = 14), @entity4240 (n = 62), and @entity2639 (n = 1). Diagnosis was not made in five cases as their specimens contained no @entity4530 . Confirmatory genetic analysis was done for five junctional cases from two families with clinical features of @entity24507 . Genetic molecular studies showed nonsense mutations in the last codon of exon 39 of the laminin a3a ( @entity13939 ) gene ( @entity71462 ) and a donor splice site mutation in @entity13939 ( @entity71463 ) in the first and second family, respectively. CONCLUSION: IFM technique is relatively simple to perform, and interpretation of the results is not sophisticated. The proportion of inconclusive results will be decreased if the specimens contain freshly induced @entity4530 .
