Identification of HLA alleles with low or no cell surface expression in the Czech population.

The presence of the A*24020102L allele is implicated in one donor from the CBMD who serologically was typed as A2; B44, B55; Cwl, Cw7. The DRB4*01030102N allele was identified in one healthy donor and in one patient with MDS during routine HLA class II DNA typing. The DRB4*01030102N allele was identified in the patient's father, who had CML, and was associated with the HLA-A3-B7-Cw7-DRB1*0701-DQB1*0303 haplotype, which is common for European populations. In order to avoid mistyping, both techniques, serology and molecular biology must be used for HLA typing, especially for cases where just one antigen appeared to be present using serological methods.

The Czech Bone Marrow Donor Registry.

OBJECTIVE: The Czech Bone Marrow Donor Registry (CBMD)--established 9 years ago, operates within the National HLA Centre, a constituent part of the Department of Immunology at the Institute for Clinical and Experimental Medicine. The Czech Cord Blood Register (CSCB) was recently established (in 1996) and started its activities. METHODS: CBMD is responsible for maintaining a database of HLA typed volunteer donors, for performing national and international searches in the file of bone marrow transplantation as well as for coordinating the communication between participating centres. RESULTS: The operation of the CBMD registry requires the modern communication technology for the exchange of data with local organisations (donor and transplant centres) and with international BM organisations and networks abroad (Bone Marrow Donors Worldwide--BMDW, National Marrow Donor Program--NMDP, European Donor Secretariat E.D.S., European Marrow Donor Information System--EMDIS). CONCLUSIONS: The CBMD is fully integrated into international cooperation. The HLA typed unrelated stem cells from Prague can be selected for patients in the whole world.

HLA-association in patients with intolerance to mercury and other metals in dental materials.

A group of selected 25 patients with serious intolerance to heavy metals used for dental restoration were examined for HLA antigens. A significant increase for HLA -- B37, B47 and DR4 was found. The value of the relative risk is not significant after correction for the number of antigens tested and therefore further studies of more patients are needed.

An overview of the Czech Bone Marrow Donor Registry.

The Czech Bone Marrow Donor registry (CBMD) was founded in 1991 in the National HLA centre at Prague's Institute for Clinical and Experimental Medicine. In the same year, the CBMD submitted its data to the Bone Marrow Donors Worldwide (BMDW). Another line of CBMD's international cooperation is accomplished through computer linkup with the European Donor Secretariat (E.D.S) network. Donors are being recruited constantly through blood transfusion units and other volunteers are enrolled through the mass media. All the methodology used is developed in compliance with the standards of the European Federation for Immunogenetics (EFI). CBMD closely cooperates with clinical centres for transplantation of bone marrow, stem cells (PBSC) and cord blood from unrelated donors. More than 7,000 potential bone marrow typed in HLA-A, B locus have been registered. Besides potential bone marrow donors, frozen cells of cord blood are kept by CBMD. Search requests from registries all over word come via E.D.S. daily except for weekends. Since its foundation in 1991, nearly 20,000 international requests have been handled. During the last two years, 5 CBMD donors provided their bone marrow to Czech patients, one donor provided stem cells (PBSC) and one donor provided bone marrow + stem cells (PBSC). To date, more than 20 transplantations from unrelated donors have been performed in Prague's transplant centres.

Partial deficiency of thyroxine-binding globulin: an HLA study.

Partial thyroxine-binding globulin (TBG) deficiency, with a median TBG of 2.3 mg/l, was found in 25 mature babies with hypothyroxinaemia (3 girls and 22 boys) from our screening programme for congenital hypothyroidism during 1988-1990. Analysis of the HLA system revealed the possibility that antigen DR6 may be considered as a risk factor for TBG deficiency (44.0 vs. 19.2%) and DR2 as a protective factor (16.0 vs. 37.5%). Similar laboratory findings were also present in 16 mothers and 1 father.

[Immunogenetic study in hypertrophic cardiomyopathy]. / Imunogenetická studie u hypertrofických kardiomyopatié.

Results of assessment of HLA antigens in hypertrophic cardiomyopathies in the world literature are very controversial. Work dealing with this problem in sufficiently large groups of patients is lacking, i.e. work which takes into account different functional and morphological forms of the disease. The authors made therefore a detailed investigation of 60 class 1 and 2 antigens in 117 patients with this disease. Values of the relative risk and chi 2 test revealed a number of possible associations. After correction for the number of examined antigens a significantly higher prevalence was proved only in HLA-B21 in patients with the obstructive form and in patients with advanced myocardial hypertrophy (thickness of more than 30 mm). Examination of HLA antigens can have in the mentioned cases a certain importance during comprehensive examinations of not quite typical forms of the disease. Carriership of antigen B21 is associated with an increased risk of serious cardiological disease, manifested already in young age.

An immunogenetic study in hypertrophic cardiomyopathy.

Research of the relevant international literature on HLA studies in patients with hypertrophic cardiomyopathy yielded controversial results. There are no studies, conducted in sufficiently large groups of patients, that would consider the different functional and morphological forms of the disease. Therefore, the authors carried out detailed typing of 60 Class I and II antigens in 117 patients known to suffer from hypertrophic cardiomyopathy. Values of the relative risk and chi-square test showed a number of possible associations. However, after correction for the number of antigens tested, only HLA-B21 was shown to have a significantly high frequency (in patients with the obstructive form and in those with advanced myocardial hypertrophy, defined as a wall thickness greater than 30 mm). An association with this antigen has previously been demonstrated in a number of cases of ischaemic heart disease, myocardial infarction of young people, and in hypertensive subjects. HLA typing may be helpful in recognizing forms which are not fully typical. In Czechoslovakia, HLA-B21 carriers are at increased risk of developing a serious heart disease manifesting already in young age.

HLA and venous thrombosis: a prospective study.

The frequency of venous thrombosis diagnosed by the fibrinogen uptake test and ultrasound in relation to HLA typing was examined in a prospective study of 154 patients undergoing total hip replacement. The results demonstrate an association between venous thrombosis and the presence of HLA Cw4 and B35 (being in a linkage disequilibrium with Cw4) (Cw4 34.4% and B35 27.3%, relative risk 2.531 and 1.935 respectively). These results suggest that the presence of HLA Cw4 can be regarded as one of laboratory risk factors of venous thrombosis.

[Recurrence of idiopathic membranous glomerulopathy]. / Relapsy u idiopatické membranózní glomerulopatie.

In 30 patients with idiopathic membranous glomerulopathy during prednisone treatment and prednisone and cyclophosphamide treatment resp. partial or complete clinical remission was recorded. In the course of the investigation (118 +/- 77 months) in 7 patients 1-4 relapses occurred. The relapses occurred more frequently in women. There was no difference between the two groups as regards clinical manifestations and morphological findings at the onset of the disease. All relapses were treated in the same way as the first attack. Treatment had in all patients the same result as during the first attack and in the course of the investigation in none of the patients deterioration of renal functions was recorded. In case of effective immunosuppressive treatment the prognosis of patients with relapses is not worse than in patients without relapses.

HLA and congenital adrenal hyperplasia.

From 25 families, 27 patients with congenital adrenogenital syndrome (AGS) and their 20 healthy siblings were examined for HLA-A, B, C and DR antigens. A statistically significant relationship was found with the HLA phenotype. The frequency of HLA Bw47 which was found only in the patients, suggests a certain disposition for the disease. The presence of HLA B8 and DR3 which were detected only in the healthy siblings, probably implies a resistance to the disease. Among the patients, cases of HLA recombination and homozygous individuals were frequent. Assessment of risk haplotypes involved in hereditary transmission of the condition and the finding of positive and negative associations with HLA antigens might offer significant help in prenatal diagnosis of the disease.