Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 10 de 10
Filter
Add more filters










Publication year range
1.
Indian J Nephrol ; 33(6): 472-475, 2023.
Article in English | MEDLINE | ID: mdl-38174297

ABSTRACT

Dorfman-Chanarin syndrome (DCS) is a rare autosomal recessive disease. It is a multisystemic disease in which renal involvement is uncommon. We report the case of a woman with nephrotic syndrome associated with DCS. A 36-year-old woman was referred to the nephrology department for edema with known history for DCS. On physical examination, she had ichthyosiform erythroderma with generalized scaly skinand ascites. The ophthalmologic examination revealed a cataract in the right eye. Abdominal ultrasound examination showed hepatomegaly and splenomegaly. Laboratory tests showed normal renal and liver function. The blood cell count showed pancytopenia. Immunologic exams showed the presence of anti-mitochondrial antibodies. Kidney biopsy showed mesangial proliferative glomerulonephritis with extensive lipid vacuoles in the tubular epithelial cells. Immunofluorescence study showed mesangial deposits of IgG, C3, kappa, and lambda. To the best of our knowledge, this is the first case of DCS with renal involvement reported in an adult.

2.
PLoS One ; 13(6): e0198549, 2018.
Article in English | MEDLINE | ID: mdl-29912900

ABSTRACT

BACKGROUND AND OBJECTIVES: Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of these microsatellite markers localized in the MHC region was reported in many auto-immune diseases. In this study we analyzed for the first time eight polymorphisms of microsatellite loci at the HLA region: D6S291, D6S273, TNFa, b and c, MICA, D6S265 and D6S276, in Tunisian systemic lupus erythematosus (SLE) patients. MATERIALS AND METHODS: We performed a case control study in which the microsatellite loci were amplified using specific primers labeled with NED, VIC, PET or 6-FAM and analyzed using GeneScan software 3.7. For the statistical analysis, we used SPSS software and we performed a sub-haplotype scoring test using the haplo.stats software developed in the R language. RESULTS: We found that two mean associated regions existed; the most statistically significant encompassed the 3 TNF markers (p = 0.0003, OR = 19.34); the latter covered the DR region. In fact, when scoring haplotypes in 3 marker- sliding windows, the p value increased as we moved away from the TNF region and decreased again when we approached the DRB1 locus. We also established for the first time the negative association between alleles of D6S291 and SLE. The majority of clinical and serological correlations were noted with TNF alleles. CONCLUSION: Our results confirm the association between TNF and DRB1 polymorphisms and SLE. The association between alleles of D6S291 and SLE needs however to be verified by the analysis of other markers beyond this region.


Subject(s)
Genetic Predisposition to Disease/genetics , HLA Antigens/genetics , Lupus Erythematosus, Systemic/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Alleles , Case-Control Studies , Female , Humans , Male , Microsatellite Repeats/genetics , Middle Aged , Polymorphism, Genetic/genetics , Tunisia/epidemiology , Young Adult
3.
Int J Health Sci (Qassim) ; 12(1): 21-27, 2018.
Article in English | MEDLINE | ID: mdl-29623013

ABSTRACT

INTRODUCTION: Systemic lupus erythematosus (SLE) is an autoimmune disease with various presentations. This variation is due to the interaction of hormonal, environmental, and genetic factors. Associations between human leukocyte antigens and SLE have long been recognized in different ethnic populations and have been suggested to represent the most important association. OBJECTIVES: The objectives of this paper were to determine susceptibility and protection human leukocyte antigens (HLA) Class II markers for SLE and to highlight, for the first time, associations between HLA alleles and clinical and serological features in South Tunisia. METHODS: We conducted a case-control study on 75 SLE patients and 123 healthy controls. The HLA Class II DRB1/DQB1 of all patients and controls was genotyped using polymerase chain reaction-sequence specific primer technique. Statistical analysis was performed using SPSS software. RESULTS: HLA-DRB1*03 was the principal Class II allele associated with the genetic susceptibility to SLE (pc = 0.02; OR = 2.57; CI = [1.39-4.75]; this allele was also associated with anti-SSB production (P = 0.016; OR = 4.00; CI = [1.24-12.96]). HLA-DRB1*01 was significantly more expressed in SLE patients with neurologic disorders (P = 0.013; OR = 20.25; CI = [1.87-219.21]). No allele was found to be protective against SLE in our study group. CONCLUSION: Our results show that in South Tunisia SLE is associated with HLA-DRB1*03 and that some clinical features of SLE may be influenced by specific DRB1 and DQB1 alleles.

4.
Seizure ; 53: 42-46, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29125944

ABSTRACT

PURPOSE: Drug rash with eosinophilia and systemic symptoms (DRESS) is a serious adverse drug reaction. Carbamazepine is the most common causes of this syndrome. The HLA-A*31:01 allele has been shown to be strongly correlated with carbamazepine-induced DRESS syndrome in European, Japanese, Han Chinese and other asian population but not in African populations. So, our purpose is to study there is a correlation between HLA-A*31:01 and carbamazepine-induced DRESS syndrome in africain population? METHODS: HLA class I (A and B) typing was performed on 7 subjects with carbamazepine-DRESS syndrome and 25 tolerants controls subjects. DNA typing HLA class I (A) alleles was checked by the polymerase chain reaction amplification Sequence Specific Oligonucleotide Probes (SSO) (reverse-SSO assay). High resolution HLA DNA Kit based on the Luminex technology (One Lambda®) was used according to the manufacturer's protocol. RESULTS: The HLA-A*31:01 allele, which has a prevalence of 1% in Tunisian population, was significantly associated with DRESS syndrome. It was detected in 57.14% of cases (4/7) and only 4% of controls subjects (1/25). Thus, the carrier frequency of HLA-A*31:01 allele in the cases group was also significantly higher than in the controls group (57, 14% vs 4% P = 0,004). Odds ratio is estimated 32 (OR = 32 [2.6; 389.2]) CONCLUSION: Similarly to other ethnicities, the presence of the HLA-A*31:01 allele was associated with carbamazepine-DRESS syndrome in a sample of North African population. Future study must be conducted on a larger sample in order to confirm these results.


Subject(s)
Anticonvulsants/adverse effects , Carbamazepine/adverse effects , Drug Hypersensitivity Syndrome/genetics , HLA-A Antigens/genetics , Adult , Aged , Case-Control Studies , Drug Hypersensitivity Syndrome/etiology , Female , Heterozygote , Humans , Male , Middle Aged , Tunisia
5.
Electrophoresis ; 36(23): 2908-13, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26331800

ABSTRACT

Y chromosome STRs (Y-STRs) are being used frequently in forensic laboratories. Previous studies of Y-STR polymorphisms in different groups of the Tunisian population identified low levels of diversity and discrimination capacity (DC) using various commercial marker sets. This definitely limits the use of such systems for Y-STRs genotyping in Tunisia. In our investigation on South Tunisia, 200 unrelated males were typed for the 12 conventional Y-STRs included in the PowerPlex® Y System. Additional set of nine noncore Y-STRs including DYS446, DYS456, DYS458, DYS388, DYS444, DYS445, DYS449, DYS710, and DYS464 markers were genotyped and evaluated for their potential in improving DC. Allele frequency, gene diversity, haplotype diversity (HD), and DC calculation revealed that DYS464 was the most diverse marker followed by DYS710 and DYS449 markers. The standard panel of 12 Y-STRs (DC = 80.5%) and the nine markers were combined to obtain DC of 99%. Among the 198 different haplotypes observed, 196 haplotypes were unique (HD = 99.999). Out of the nine noncore set, six Y-STRs (DYS458, DYS456, DYS449, DYS710, DYS444, and DYS464) had the greatest impact on enhancing DC. Our data provided putative Y-STRs combination to be used for genetic and forensic applications.


Subject(s)
Chromosomes, Human, Y , Genetic Variation , Haplotypes/genetics , Gene Frequency , Genetics, Population , Humans , Male , Microsatellite Repeats , Polymorphism, Genetic , Tunisia
6.
Clin Rheumatol ; 31(6): 937-42, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22349877

ABSTRACT

The aim of this study is to explore relationship between HLA-DRB1 alleles and the susceptibility and clinical features of rheumatoid arthritis (RA) in the south Tunisian population. We studied 142 RA patients and 123 controls matched for age, sex, and ethnicity. HLA-DRB1 genotyping and HLA-DRB1*04 subtypes were performed using polymerase chain reaction/sequence-specific primers. Association was assessed based on the χ (2) test and odds ratio with 95% confidence interval. For multiple comparisons, p value was corrected (p (c)) with Bonferroni test. Two alleles, HLA-DRB1*04 (p=0.045, p(c)=NS) and HLA-DRB1*10 (p=0.021, p(c)=NS), were found to have increased frequencies in RA patients compared to controls. In contrast HLA-DRB1*08 allele was found to have a decreased frequency in patients compared to controls (p=0.044, p(c)=NS). Molecular subtyping of the most prevalent allele (DRB1*04) revealed increased frequencies of HLA-DRB1*04:05 in patients compared to controls (p=0.013, p(c)=NS) whereas HLA-DRB1*04:02 showed a protective effect (p=0.005, p(c)=0.04). Moreover, stratified analyses indicated statistically significant associations between HLA-DRB1*04 allele and anti-cyclic peptides antibodies positivity (ACPA(+)) and rheumatoid factor positivity (RF(+); p(c)=0.03, for both subgroups), HLA-DRBI*10 and ACPA(+) and the presence of another autoimmune disease (p(c)=0.05 and p(c)=0.007, respectively), and HLA-DRB1*04:05 and RF(+) and erosion (p(c)=0.005 and p(c)=0.049; respectively). A significant decrease in the frequency of the DRB1*04:02 allele was observed in patients with ACPA(+) and RF(+) subgroups (p(c)=0.04 and p(c)=0.02, respectively). Our results showed that there was a trend of positive association of HLA-DRB1*04 and HLA-DRB1*10 with RA as such and significant associations with the disease severity in the south Tunisian population.


Subject(s)
Arthritis, Rheumatoid/genetics , Arthritis, Rheumatoid/immunology , HLA-DRB1 Chains/genetics , Adult , Alleles , Autoantibodies/chemistry , DNA Primers/genetics , Female , Gene Frequency , Genotype , HLA-DRB1 Chains/immunology , Humans , Male , Polymerase Chain Reaction , Rheumatology/methods , Tunisia
7.
Genet Test Mol Biomarkers ; 16(6): 482-7, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22224635

ABSTRACT

This study aimed to investigate the association between HLA DR/DQ and inflammatory bowel diseases (IBD) in Tunisian patients and to determine the relationship between HLA DR/DQ alleles with the clinical disease patterns. DNA typing of human leukocyte antigen (HLA) genes was performed in 70 ulcerative colitis (UC) patients, 40 Crohn's disease (CD) patients, and 123 healthy controls (HC) using a polymerase chain reaction sequence specific primer technique. Data were analyzed using Cochran-Mantel-Haenszel test and binary logistic regression. Compared with HC, IBD patients showed an increased frequency of the homozygous DRB1*07 genotype. This positive association was maintained when UC and CD were separately compared to HC. In UC patients, DQB1*03:02 was predictive of colonic extension whereas DRB1*13 and DQB1*03:01 were associated limited disease localization (left-sided colitis and proctitis). The DRB1*15 allele increased in patients with extraintestinal manifestations. In CD, female patients showed an increased frequency of DRB1*13, DRB1*15, and DQB1*06 alleles and DRB1*13-DQB1*06 haplotype, whereas a significant increase of DRB1*07, DQB1*02 alleles, and DRB1*07-DQB1*02 haplotype was noted in male patients. These results show a significant association of the homozygous HLA-DRB1*07 genotype with UC and CD and of several HLA DR/DQ alleles and haplotypes with the clinical phenotypes of these diseases in Tunisian patients. Because of limited statistical power, our study findings are subject to further investigation.


Subject(s)
Colitis, Ulcerative/genetics , Crohn Disease/genetics , Genetic Predisposition to Disease , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Histocompatibility Testing , Inflammatory Bowel Diseases/genetics , Inflammatory Bowel Diseases/physiopathology , Adult , Alleles , Colitis, Ulcerative/immunology , Colitis, Ulcerative/physiopathology , Crohn Disease/immunology , Crohn Disease/physiopathology , Female , Gene Frequency , Genotype , HLA-DQ Antigens/immunology , HLA-DR Antigens/immunology , HLA-DRB1 Chains/genetics , Haplotypes , Histocompatibility Antigens Class II/genetics , Histocompatibility Antigens Class II/immunology , Humans , Inflammatory Bowel Diseases/immunology , Male , Phenotype , Tunisia
8.
Clin Rheumatol ; 30(8): 1069-73, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21360006

ABSTRACT

The aim of this study is to investigate the association of HLA-A, B and HLA-DR gene expression and to assess an association of additional HLA antigens besides HLA-B27 in south Tunisian patients with spondyloarthritis (SpA). Eighty-five patients diagnosed with ankylosing spondylitis (AS, n=68) and reactive arthrithis (ReA, n=17) were selected and compared with 100 healthy controls (HC). HLA class I antigens were typed serologically using microlymphocytotoxicity technique. HLA-DRB1* alleles were studied by polymerase chain reaction amplification with sequence-specific primers. The significance of differences between patients and controls was tested by chi-square analysis. We found significantly increased frequencies of HLA-A3 (30.6%; pC=0.04; OR=2.95), HLA-B27 (62.35%; pC=4.10(-17), OR=53.55), and HLA-DRB1*15 (17.2%; pC=0.026; RR=2.58) alleles in SpA patients compared to HC. The most frequent and strongest association was observed for HLA-B27 in AS (pC=6.6 ×10(-16), OR=52.23). When AS and ReA patients were analysed separately, HLA-DRB1*15 and HLA-A3 were increased only in AS (pC=0.01, OR=2.99 and pC=0.03, OR=3.14, respectively). In ReA patients, HLA-DRB1*04 (p=0.033, pC=NS, OR=2.89) was found to be the most common allele. By analysing the HLA-B27-negative subgroup, HLA-A3 and HLA-DRB1*15 expression was found to be dependent on the presence of HLA-B27. HLA-B27 expression was higher in male (45/53; 85%) as compared to female (8/53; 15%) patients (p=0.03). Apart from HLA-B27, HLA-A3 and HLA-DRB1*15 are the MHC class I and II alleles found most frequent in Tunisian patients with AS, whereas HLA-DRB1*04 was found most frequent in ReA patients. HLA-B27 is more frequent in male than in female patients.


Subject(s)
Gene Expression , HLA-A Antigens/genetics , HLA-DR Antigens/genetics , Spondylitis, Ankylosing/genetics , Adult , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , Male , Phenotype , Prohibitins , Spondylitis, Ankylosing/ethnology , Spondylitis, Ankylosing/physiopathology , Tunisia/ethnology
9.
Rheumatol Int ; 29(10): 1193-6, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19152094

ABSTRACT

The purpose of the present study is to investigate the frequency of HLA-B27 and its alleles in reactive arthritis (ReA) and in ankylosing spondylitis (AS) in Tunisia. HLA-B27 alleles were typed by PCR amplification with sequence-specific primers. We studied 17 patients with ReA associated with urethritis or with gastrointestinal infection; 42 HLA-B27-positive patients with AS and 100 healthy controls. Eleven ReA patients (67.7%) were HLA-B27 positive. There was an increased frequencies of HLA-B27 (P = 7.76 x 10(-12), OR = 59.30) and a moderate increase of HLA-B51 (P = 0.015; OR = 4.91) alleles in ReA patients when compared with healthy controls. Four B27 subtypes were identified: B*2702, 05, 09 and B*2712. The distribution of these alleles in the ReA patients was 37.5% for B*2702 and B*2705. Only these two subtypes were detected in 18 (42.8%) and 24 (57.1%), respectively, of the AS patients. B*2709 and B*2712 were relatively rare in ReA patients and were identified in one case each. Our results showed a restricted number of HLA-B27 subtypes associated with ReA and AS. B*2702 and 2705 were common in ReA and AS patients.


Subject(s)
Alleles , Arthritis, Reactive/genetics , HLA-B27 Antigen/genetics , HLA-B27 Antigen/immunology , Spondylitis, Ankylosing/genetics , Adult , Arthritis, Reactive/immunology , Cross Reactions , Cytotoxicity Tests, Immunologic , Female , Gene Frequency , Histocompatibility Testing , Humans , Male , Prohibitins , Spondylitis, Ankylosing/immunology , Tunisia
10.
Tunis Med ; 85(10): 834-8, 2007 Oct.
Article in English | MEDLINE | ID: mdl-18236804

ABSTRACT

BACKGROUND: Atopic dermatitis (AD) is a chronic inflammatory skin disease resulting from the interaction between envirommental and genetic factors. Many genes are involved in the etiopathology of AD, such as HLA genes. OBJECTIVES: Study the association between HLA-A, B, DR and DQ genes and the AD. METHODS: HLA A and B genotyping were practised for 53 atopic dermatitis patients and 76 healthy controls using the microlymphotoxicity complement dependent technique, while HLA DR and DQ genetyping were practised for only 20 patients with AD and all the controls by PCR-SSP method. RESULTS: Allelic frequency of HLA A32 was significantly increased in healthy individuals compared to patients affected with AD (p = 0.02, RR = 0.24). HLA-B, DR and DQ showed no differences in distrubition between patients and controls. CONCLUSION: Our study suggested that HLA-A32 could be a protective marker against atopic dermatitis for Tunisian patients, in contrast to HLA-B, DR and DQ alleles which seemed to have no importance in AD pathogenis.


Subject(s)
Dermatitis, Atopic/immunology , HLA-A Antigens/genetics , HLA-B Antigens/genetics , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Adolescent , Adult , Case-Control Studies , Child , Child, Preschool , Dermatitis, Atopic/genetics , Female , Gene Frequency/genetics , Genes, MHC Class I/genetics , Genes, MHC Class II/genetics , Genotype , Humans , Infant , Male , Middle Aged
SELECTION OF CITATIONS
SEARCH DETAIL
...