Short Communications Int. Archs Allergy appl. Immun. 54: 473-474 (1977)
HLA - Frequencies in Intermittent Acute Porphyria ]. Teuber, F. Druschky, W. Franzke and H. W. Baenkler Institutes of Clinical Immunology (Director: Prof. Dr. F. Scheiffarth) and Neurology (Director: Prof. Dr. H. Wieck), University of Erlangen, Erlangen
Abstract. Tissue typing was performed in 20 patients suffering from intermittent acute porphyria using the lymphocytotoxicity test in a two-step method. The patients belonged to different families and were not related. Compared with the healthy population, an increased frequency of HLA-A10, HLA-A29, HLA-B13, HLA-B14 and HLA-B27 was observed, whereas HLA-A2, HLA-A3, HLA-A9, HLA-A11, HLA-A28 and HLA-BW15 had decreased frequencies. No conspicuous combination between particular HLA alleles was detected. Regarding the number of differences, a relationship between the patients due to a common ancestor must be considered. Intermittent acute porphyria (IAP) is a genetically determined disease belonging to the group of hepatic porphyria. The primary defect is the reduction of the activity of uro porphyrinogen I-synthetase in the liver and in other tissue. This is a reliable criterion with respect to the diagnosis. The inherit ance is by an autosomal gene [2], The loca tion of the defect on the gene map is not yet known. This study was designed to look for a correlation between the manifestation of IAP and HLA.
three were males. The diagnosis was confirmed by measuring the uroporphyrinogen I synthetase in red blood cells [1] as well as of the precursors of haem d-aminolaevulinic acid and porphobilinogen. Also, in some patients, the daily excretion of all porphyrinogenes was measured. Tissue typing. HLA were tested by micro-lymphocytotoxicity in a two-step method using the complete set of defined antisera originating from Eurotransplant (Leiden, Netherlands). All samples were processed immediately after drawing. Statistical analysis. The evaluation of differ ences in respect to the normal population [3] was performed using the ■/} test. Since the controls were tested in different laboratories only 18 of 31 groups could be compared.
Materials and Methods
Tissue typing was accomplished in all patients. In three patients, however, less than four antigens were identified. In com-
Downloaded by: Univ. of California Santa Barbara 128.111.121.42 - 3/6/2018 7:06:41 AM
Results Patients. 20 patients suffering from a clinically manifest IAP with abdominal pains and neuropa thy were chosen. They belonged to different fami lies and were not related to each other. The age was 31-61 years; 17 patients were females and
474
Teuber/Druschky/Franzke/Baenkler
IAP, %
Normal1, % Z2 test P
HLA-A1 HLA-A2 HLA-A3 HLA-A9 HLA-A10 HLA-All HLA-A28 HLA-A29
45 35 5 5 30 0 0 20
28.1 51.5 30.2 20.5 11.2 9.8 7.1 4.7
< 0.001 < 0.001 < 0.001
HLA-B5 HLA-B7 HLA-B8 HLA-BI3 HLA-B14 HLA-B18 HLA-B27 HLA-BWI5 HLA-BWI7 HLA-BW22
10 30 15 15 20 5 15 5 5 0
13.4 27.0 19.2 6.2 5.0 8.5 8.1 14.4 8.2 3.4
> > > < < > < < > >
< 0.001 < 0.001 < 0.001 < 0.01 < 0.001
0.05 0.05 0.05 0.001 0.001
0.05 0.05 0.01 0.05 0.05
1 Representative HLA-phenotype in German normal population.
parison to the normal German population there was a significant (p
HLA - Frequencies in Intermittent Acute Porphyria ]. Teuber, F. Druschky, W. Franzke and H. W. Baenkler Institutes of Clinical Immunology (Director: Prof. Dr. F. Scheiffarth) and Neurology (Director: Prof. Dr. H. Wieck), University of Erlangen, Erlangen
Abstract. Tissue typing was performed in 20 patients suffering from intermittent acute porphyria using the lymphocytotoxicity test in a two-step method. The patients belonged to different families and were not related. Compared with the healthy population, an increased frequency of HLA-A10, HLA-A29, HLA-B13, HLA-B14 and HLA-B27 was observed, whereas HLA-A2, HLA-A3, HLA-A9, HLA-A11, HLA-A28 and HLA-BW15 had decreased frequencies. No conspicuous combination between particular HLA alleles was detected. Regarding the number of differences, a relationship between the patients due to a common ancestor must be considered. Intermittent acute porphyria (IAP) is a genetically determined disease belonging to the group of hepatic porphyria. The primary defect is the reduction of the activity of uro porphyrinogen I-synthetase in the liver and in other tissue. This is a reliable criterion with respect to the diagnosis. The inherit ance is by an autosomal gene [2], The loca tion of the defect on the gene map is not yet known. This study was designed to look for a correlation between the manifestation of IAP and HLA.
three were males. The diagnosis was confirmed by measuring the uroporphyrinogen I synthetase in red blood cells [1] as well as of the precursors of haem d-aminolaevulinic acid and porphobilinogen. Also, in some patients, the daily excretion of all porphyrinogenes was measured. Tissue typing. HLA were tested by micro-lymphocytotoxicity in a two-step method using the complete set of defined antisera originating from Eurotransplant (Leiden, Netherlands). All samples were processed immediately after drawing. Statistical analysis. The evaluation of differ ences in respect to the normal population [3] was performed using the ■/} test. Since the controls were tested in different laboratories only 18 of 31 groups could be compared.
Materials and Methods
Tissue typing was accomplished in all patients. In three patients, however, less than four antigens were identified. In com-
Downloaded by: Univ. of California Santa Barbara 128.111.121.42 - 3/6/2018 7:06:41 AM
Results Patients. 20 patients suffering from a clinically manifest IAP with abdominal pains and neuropa thy were chosen. They belonged to different fami lies and were not related to each other. The age was 31-61 years; 17 patients were females and
474
Teuber/Druschky/Franzke/Baenkler
IAP, %
Normal1, % Z2 test P
HLA-A1 HLA-A2 HLA-A3 HLA-A9 HLA-A10 HLA-All HLA-A28 HLA-A29
45 35 5 5 30 0 0 20
28.1 51.5 30.2 20.5 11.2 9.8 7.1 4.7
< 0.001 < 0.001 < 0.001
HLA-B5 HLA-B7 HLA-B8 HLA-BI3 HLA-B14 HLA-B18 HLA-B27 HLA-BWI5 HLA-BWI7 HLA-BW22
10 30 15 15 20 5 15 5 5 0
13.4 27.0 19.2 6.2 5.0 8.5 8.1 14.4 8.2 3.4
> > > < < > < < > >
< 0.001 < 0.001 < 0.001 < 0.01 < 0.001
0.05 0.05 0.05 0.001 0.001
0.05 0.05 0.01 0.05 0.05
1 Representative HLA-phenotype in German normal population.
parison to the normal German population there was a significant (p
