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S Koskimies

Publications and source records attributed to S Koskimies.

At least 19 recordsLinked to original sources
PubMed1992

Intraepithelial gamma delta T-cell-receptor lymphocytes and genetic susceptibility to coeliac disease.

Although the proportion of gamma delta T-cell-receptor (TCR)-bearing intraepithelial lymphocytes is increased in the jejunum of patients with active coeliac disease, an abnormality thought to be specific among those with gluten-sensitive enteropathy, the factors influencing gamma delta TCR expression remain uncertain. We examined the relation between genetic factors associated with coeliac disease and intraepithelial gamma delta T lymphocyte distribution in both coeliac patients and their healthy first-degree relatives. 41% (45/109) of healthy relatives had an increased density of gamma delta T cells in their mucosa and 66% had an increased density of alpha beta T cells. By contrast with alpha beta T cells, the density of gamma delta cells was significantly associated with genetic markers for coeliac disease susceptibility (DR3, DQA, and DQB). We also found a dose effect of DQA and DQB genes on the number of intraepithelial gamma delta T cells. An increased density of gamma delta T cells in normal jejunal mucosa of a healthy individual with appropriate genetic determinants might be necessary for the development of the typical lesions of coeliac disease. Routine jejunal histological studies should include gamma delta T-cell counts, thus allowing early detection of coeliac disease latency.

Alleles↗
PubMed1992

HLA typing and seropositivity in Finnish and in Polish patients with rheumatoid arthritis and amyloidosis.

We determined HLA-A, -B, -C and -DR antigens in 83 patients with rheumatoid arthritis (RA) and reactive secondary amyloidosis (RSA), 60 in Finland and 23 in Poland, and compared the results with control RA patients and blood donors. There were no significant differences in the frequencies of HLA between the RA patients with and those without RSA in either Finland or Poland, and no significant differences between the Finnish and Polish patients with RSA. All the RSA patients from Finland and 70% of the RSA patients from Poland were seropositive. In the development of RSA, the prolonged period of inflammatory stimuli may play a more important role than genetic factors.

Adolescent↗
PubMed1992

Tumour necrosis factor B gene polymorphism in relation to complotype in couples with spontaneous abortions and in control families.

NcoI restriction fragment length polymorphism (RFLP) of the tumour necrosis factor B (TNFB) gene gives two allelic fragments of 5.5 and 10.5 kb, corresponding to the TNFB*1 and TNFB*2 alleles, respectively. The frequencies of these alleles were analysed in 121 healthy Finns and 56 Finnish couples suffering from recurrent spontaneous abortions (RSA). In the healthy Finns the frequency of TNFB*1 was 37% and that of TNFB*2 63%, of which the frequency of TNFB*1 was significantly increased compared with the Danish population. No deviation was seen between the RSA couples and the Finnish controls. TNF genes are located in major histocompatibility complex class III region close to complement (BF, C4A and C4B) genes. Some complotypes associated most often with the TNFB*1 (S01, S30, S02) and some (S31, F320) with the TNFB*2 allele in the healthy Finns. The combination of the TNFB and the C4 'null' allele differed between the RSA couples and the Finnish controls.

Abortion, Habitual↗
PubMed1992

Major histocompatibility complex located complement C4 and steroid 21-hydroxylase gene rearrangements in couples with recurrent spontaneous abortions.

Major Histocompatibility Complex (MHC) class III located complement C4 and steroid 21-hydroxylase (21OH) genes, which form various deletion and duplication units, were studied by TaqI Restriction Fragment Length Polymorphism (RFLP) in 58 Finnish couples who suffered recurrent spontaneous abortions (RSA). The gene rearrangements found in the RSA couples did not differ from those in the controls.

Abortion, Habitual↗
PubMed1991

Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease.

Coeliac disease may remain undiagnosed because of the non-specific nature of the presenting symptoms. Several antibody tests are claimed as markers for this condition but a direct comparison of the available tests has not been reported. The probands and healthy first-degree relatives of 42 families with coeliac disease were studied. Histological examination of biopsy specimens revealed jejunal mucosal villous atrophy compatible with coeliac disease in 13 of 122 relatives. Reticulin-antibody-positive relatives with or without jejunal mucosal atrophy were genetically similar to the probands of the families (DR3 gene frequencies 55.3%-60.0%). Gliadin-antibody-positive relatives with normal mucosa were genetically different from the probands (DR3 gene frequency 16.7% versus 55.3%). IgA reticulin and endomysium antibodies detected 92.3% of subjects with silent coeliac disease. The only case that was missed had selective IgA deficiency and was positive for IgG-class reticulin antibodies. By contrast, gliadin antibodies detected only half of the cases. Follow-up of the 7 reticulin-antibody-positive relatives with normal mucosa revealed 2 further cases of coeliac disease and 1 of dermatitis herpetiformis during the next three years. Our family study shows that healthy reticulin-antibody-positive first-degree relatives of coeliac disease patients, irrespective of the state of the jejunal mucosa, are genetically similar to known coeliac disease patients. Reticulin-antibody positivity is an indicator of both silent and latent coeliac disease.

Antibodies↗
PubMed1991

Dental enamel defects in first-degree relatives of coeliac disease patients.

To find out whether dental changes can be used to screen for coeliac disease among apparently healthy relatives of patients with the disorder, 56 healthy first-degree relatives of such patients were subjected to dental examination and small bowel biopsy. 25 had coeliac-type general permanent-tooth enamel lesions. All 7 who had histological evidence of coeliac disease also had enamel lesions. The finding that enamel defects may occur without small bowel changes must be borne in mind in screening. The coeliac-type enamel changes were strongly associated with HLA-DR3, and most of the DR3 alleles belonged to the extended haplotype A1; B8; DR3 group.

Adolescent↗
PubMed1991

Prevention of alloimmunization in patients with acute leukemia by use of white cell-reduced blood components--a randomized trial.

Platelet refractoriness arising from HLA alloimmunization is a serious complication of transfusion therapy. In a prospective randomized trial, white cell (WBC)-reduced blood components were compared to standard platelet and red cell concentrates with respect to alloimmunization, refractoriness, and platelet increments after transfusion. Sixteen of 31 adult acute leukemia patients received only WBC-reduced platelet concentrates (PCs) and red cells (RBCs), with fewer than 10(6) WBCs per unit. Fifteen control patients received standard blood components with a mean of 0.1 x 10(9) (PCs) and 1 x 10(9) (RBCs) WBCs per unit. Platelet loss during cotton-wool filtration averaged 14 percent (range, 3-32%) from fresh PCs and 24 percent (range, 9-62%) from stored PCs. Filtration did not change corrected increments (CI) measured after transfusion of fresh PCs. The Cl 1 hour after filtration of stored PCs diminished by 27 percent, but the difference was smaller after 18 hours, which suggests better survival of WBC-reduced platelets. The number of platelet units transfused did not differ in the two groups. No patient in the WBC-reduced group developed permanent platelet refractoriness; transient HLA antibodies of low titer developed in two patients. In the control group, one patient became refractory because of immunization and two developed transient HLA antibodies. It can be concluded that the reduction of WBCs in blood components can effectively prevent alloimmunization.

Adolescent↗
PubMed1991

Increased frequency of complement C4 'null' alleles in recurrent spontaneous abortions.

Typings for major histocompatibility antigens HLA A, B, C and DR and for complement C4A, C4B and factor B were performed for 59 Finnish couples experiencing at least three consecutive recurrent spontaneous abortions (RSA). Forty-one of them were primary abortion (PA) couples with no children and 18 were secondary abortion (SA) couples who had one or two children before abortions. HLA sharing in A and B loci was slightly but significantly increased (15%, P less than 0.05) among RSA couples compared to the controls, as was DR sharing among SA couples compared to PA couples (50% versus 22%, P less than or equal to 0.05). The most interesting new finding, however, was the statistically significant increase of complement C4 functionally silent, i.e. C4 'null', alleles in RSA couples. C4 is a duplicated gene and its products differ in their functions in the complement cascade. C4A null alleles were equally increased in PA wives and in PA husbands (32%, P less than or equal to 0.05) compared to the controls (18%) and C4B null alleles in SA wives (56%, P less than or equal to 0.05) and in SA husbands (50%) compared to the controls (29%). Therefore, the offspring of RSA couples have a significantly increased risk of inheriting several null alleles. The majority, 95% (P less than 0.001) of PA couples and 83% of SA couples, had at least one C4A or C4B null in their phenotypes compared to 66% among Finnish controls.

Abortion, Habitual↗
PubMed1991

The association of HLA-DR antigens with acute steroid-resistant rejection and poor kidney graft survival.

The association of an early steroid-resistant rejection (SRR) with HLA-DR antigens was analyzed in 410 kidney transplantations. A severe SRR leading to a poor (45%) 1-year graft survival (GS) occurred in 22 transplantations (5%). An acute reversible rejection (ARR) with a GS of 94% was found in 80 transplantations (20%). For the 308 (75%) transplantations with no early rejection episodes the GS was 91%. HLA-DR5 and -DR8 present in the donor as incompatible antigens were strongly associated with SRR. Further, a mismatched DR1 from the kidney donor predicted a rejection, either reversible or irreversible. These findings may have practical implications for an early diagnosis of SRR and for considering of rescue therapy whenever transplantation with disparities in these loci has been performed.

Adult↗
PubMed1991

Familial narcolepsy in Finland.

Five patients with narcolepsy-cataplexy (aged 31-69, mean age at onset 15 years) and their 47 relatives were examined. They were interviewed in detail, all patients and 16 relatives (including all symptomatic cases) were examined neurologically and a multiple sleep latency test and HLA-typing were done. One case of narcolepsy and two cases of idiopathic hypersomnia were identified. All the other 45 relatives were symptom-free. The observed rate of familial cases (1/5 for narcolepsy and 2/5 for idiopathic hypersomnia) corresponds the results of other recent studies.

Adult↗
PubMed1991

Changes in plasma complement C4 and factor B allotypes after liver transplantation.

Plasma complement allotypes for C4 and factor B were determined in 21 patients before and after liver transplantation together with donor typing. In 17 transplantations allelic differences between the patient and the donor could be shown. In all cases the patient's C4 and factor-B types converted to that of the donor, showing that the liver is the major source of plasma complement C4 and factor B.

Adult↗
PubMed1991

Rheumatoid arthritis in identical twins: a clinical and immunogenetic study of eight concordant pairs derived from a nationwide twin panel.

The nationwide Finnish Twin Cohort was linked with the national Sickness Insurance Register. Eight identical twin pairs concordant for rheumatoid arthritis (RA) fulfilling the American Rheumatism Association criteria were identified. All 16 cases were known to be seropositive. Four pairs had at least one additional first-degree relative with RA, and the prevalence of RA among all the first-class relatives was 9%. HLA-typing was performed for 15 patients representing the eight pairs; six pairs carried the DR4 allele, and three of these pairs were putative homozygotes. Nodules and Sjögren syndrome occurred fairly frequently (in 7 of 16 and 6 of 13 cases examined, respectively), but concordance within pairs was no higher than that expected by chance. The course of the disease was fulminant in one patient and in several others the disease had led to marked joint destructions. The findings pointed out to some intrapair similarity in the progression of the joint damage and in the type of complications caused by gold.

Adult↗
PubMed1991

Exercise-induced urticaria and anaphylaxis.

Five patients with exercise-induced anaphylactoid reactions are reported. Because of a growing interest in physical exercise and the severity of the symptoms it is important to recognize this condition, even though rare. All of our 5 patients had a history of urticaria and anaphylaxis in association with physical stress, but it seems difficult to induce anaphylactoid reactions under laboratory conditions. Two different clinical patterns could be distinguished in these patients. Three had the anaphylactoid form with signs of alternative complement pathway activation, while 2 patients had the variant form presenting first as cholinergic urticaria and progressing to angioedema and vascular collapse. The latter patients had elevated plasma histamine levels during challenge, but no sign of complement activation was observed. Our findings suggest differing pathomechanisms for these two forms.

Adolescent↗
PubMed1991

Frequencies of HLA-DR3, -DR4, -B8 and -Bw62 in diabetic children diagnosed between 1960 and 1990.

An analysis of the HLA-types of 351 children in whom a diagnosis of insulin dependent diabetes mellitus (IDDM) had been made between 1960 and 1990 revealed that although the frequencies of HLA-DR3, -DR4, -DR3/4, -B8 and -Bw62 were increased there was, depending on the year of diagnosis, a marked fluctuation in the frequencies of these HLA-antigens and in the frequency with which -B8 was associated with -DR3 and -Bw62 with -DR4 suggesting heterogeneity/variation in agents initiating/triggering IDDM.

Chickenpox↗
PubMed1990

Production of interferon in mixed leukocyte cultures from two individuals.

No detectable interferon (IFN) was produced when purified leukocytes from individual blood donors were incubated without induction at 10(7) cells/ml at 37 degrees C. Mixing the leukocytes from two donors resulted in the production of IFN that was predominantly IFN-gamma but contained also some IFN-alpha/beta. The titers varied greatly depending on the combination of the two individuals. The amount of IFN produced did not bear a clear correlation to the HLA A, B, or DQ antigenic differences between the two individuals. A difference in one or two DR alleles was not always a sufficient stimulus for abundant IFN production, but more numerous antigenic DR differences tended to increase the IFN response.

HLA Antigens↗
PubMed1990

MS and SLE in twins of successive generations.

During a nationwide twin study on multiple sclerosis (MS) in Finland a dizygotic pair discordant for MS was found. The affected co-twin had dizygotic twin daughters. The affected co-twin of the second generation had systemic lupus erythematosus (SLE). Both pairs were thoroughly examined. No evidence of CNS involvement in the healthy co-twins was found. In pairwise comparisons, virus-specific IgG antibodies to measles and mumps were significantly increased in the MS patient whereas the same was true for rubella in the SLE patient. Both MS and SLE patient expressed HLA alleles most often found to be associated with these disorders. Reversed CD4/CD8 ratios were observed in both MS and SLE patient. No difference in interleukin-2 receptor expression were found but gamma-interferon secretion in the MS patient showed marked increase whereas that of the SLE patient was of the same magnitude as in the healthy members. A different triggering stimulus rather than the dissimilarity in the immunogenetic predisposition may be decisive as to whether or not they develop MS or SLE.

Adult↗