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1.
J Clin Immunol ; 36(3): 187-94, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26931785

RESUMO

PURPOSE: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton's disease in 40 North African male patients. METHODS: Fifty male out of 63 (male and female) patients diagnosed with serum agammaglobulinemia and non detectable to less than 2% peripheral B cells were enrolled. The search for BTK gene mutations was performed for all of them by genomic DNA amplification and Sanger sequencing. RESULTS: We identified 33 different mutations in the BTK gene in 40 patients including 12 missense mutations, 6 nonsense mutations, 6 splice-site mutations, 5 frameshift, 2 large deletions, one complex mutation and one in-frame deletion. Seventeen of these mutations are novel. This large series shows a lower frequency of XLA among male patients from North Africa with agammaglobulinemia and absent to low B cells compared with other international studies (63.5% vs. 85%). No strong evidence for genotype-phenotype correlation was observed. CONCLUSIONS: This study adds to other reports from highly consanguineous North African populations, showing lower frequency of X-linked forms as compared to AR forms of the same primary immunodeficiency. Furthermore, a large number of novel BTK mutations were identified and could further help identify carriers for genetic counseling.


Assuntos
Agamaglobulinemia/genética , Expressão Gênica , Frequência do Gene , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação , Infecções Oportunistas/genética , Proteínas Tirosina Quinases/genética , Adulto , Tirosina Quinase da Agamaglobulinemia , Agamaglobulinemia/complicações , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/imunologia , Idade de Início , Argélia , Alelos , Linfócitos B/imunologia , Linfócitos B/patologia , Criança , Pré-Escolar , Estudos de Associação Genética , Aconselhamento Genético , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Heterozigoto , Humanos , Lactente , Masculino , Marrocos , Infecções Oportunistas/complicações , Infecções Oportunistas/diagnóstico , Infecções Oportunistas/imunologia , Proteínas Tirosina Quinases/imunologia , Análise de Sequência de DNA , Tunísia
2.
Immunobiology ; 221(3): 462-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26626202

RESUMO

OBJECTIVE: Monocyte Chemoattractant Protein-1 (MCP-1/CCL2), a key player in immune-mediated responses against Mycobacterium tuberculosis, is encoded by a polymorphic gene. Functionally relevant polymorphic variations in the MCP-1 gene have been associated with both susceptibility to and protection against tuberculosis-related disorders. Here, we investigated the potential impact of some of these polymorphisms on Pott's disease risk in a patient cohort from Algeria. METHODS: DNA from 132 Algerian patients with exclusive Pott's disease and 204 healthy controls, included under a case-control design, were analyzed for the MCP1 -2518A/G (rs1024611), -362G/C (rs2857656) and int1del554-567 (rs3917887) polymorphisms. PHASE software was used for haplotype reconstruction. Genetic associations were examined using chi-square tests. RESULTS: We found that the rs1024611 -2518 GG, rs2857656 -362 CC and rs3917887 int1del554-567 del/del homozygous genotypes each were significantly more prevalent in patients than in controls (respective corrected p value [Pc]=0.01, 0.04 and 0.04) Haplotype distribution profile further confirmed this, as the homozygous combination of GCdel haplotype was also found with raised susceptibility to Pott's disease (Pc=0.03). CONCLUSION: Our findings confirm and replicate the recent data from China (which dealt essentially with rs1024611 and rs2857656) and also reinforce them by providing trans-ethnic evidence and extending the genetic association to the rs3917887.


Assuntos
Quimiocina CCL2/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Tuberculose da Coluna Vertebral/epidemiologia , Tuberculose da Coluna Vertebral/etiologia , Adulto , Argélia/epidemiologia , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Razão de Chances , Risco , Adulto Jovem
3.
Hum Immunol ; 66(10): 1057-61, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16386647

RESUMO

Major histocompatibility complex (MHC) class I chain-related A (MICA) molecules deliver activating signals through the NKG2D receptor expressed on the surface of natural killer (NK), CD8alphabeta and gammadelta T cells, and the MICA gene is polymorphic. The recently described MICA amino acid substitution at position 129 (MICA-129) seems to affect its binding to NKG2D. We investigated whether this dimorphism (MICA-129met [methionine] and MICA-129val [valine]) is associated with susceptibility to ankylosing spondylitis (AS) in a cohort of Algerian patients stratified according to their HLAB27 status and the age of onset of the disease. DNA from 129 patients and 76 healthy individuals were analyzed to determine the HLA-B generic type as well as MICA-129 polymorphism. Statistical analysis revealed: (1) a weaker association between AS and HLA-B27 in Algerians than in that reported for European patients (63% versus 80-90%), suggesting a possible influence of other genetic/environmental determinants in the studied population and (2) an association between MICA-129 met/met genotype and juvenile AS (p = 0.02) independent of HLA-B27 status. These data suggest a potential role for a functionally relevant MICA gene polymorphism in autoimmune/inflammatory disease susceptibility.


Assuntos
Antígenos de Histocompatibilidade Classe I/genética , Espondilite Anquilosante/genética , Adolescente , Adulto , Idade de Início , Idoso , Argélia , Criança , Feminino , Predisposição Genética para Doença , Antígenos HLA-B/genética , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Espondilite Anquilosante/epidemiologia
4.
Clin Vaccine Immunol ; 19(4): 557-61, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22323559

RESUMO

Major histocompatibility complex class I chain-related gene A (MICA-129) dimorphism was investigated in 73 autoimmune diabetes patients (type 1 diabetes and latent autoimmune diabetes in adults) and 75 controls from Algeria. Only MICA-129 Val allele and MICA-129 Val/Val genotype frequencies were higher among patients than in the control group. Statistical analysis of the estimated extended HLA-DR-DQ-MICA haplotypes shown that individual effects of MICA alleles on HLA-DQ2-DR3-MICA-129 Val/Val and HLA-DQ8-DR4-MICA-129 Val/Val haplotypes were significantly higher in patients than in the control groups. These preliminary data might suggest a relevant role of MICA-129 Val/Val single nucleotide polymorphism (weak/weak binders of NKG2D receptor) in the pathogenesis of T1D and LADA.


Assuntos
Diabetes Mellitus Tipo 1/genética , Antígenos de Histocompatibilidade Classe I/genética , Adolescente , Adulto , Argélia , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
5.
Asian J Androl ; 12(3): 422-30, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20400972

RESUMO

The seminal vesicles of adult sand rat contain a major secretory protein band (MW 21 kDa) designated as Psammomys obesus seminal vesicles protein of 21 kDa (POSVP(21)). This protein is abundant in secretions, regulated by androgens and also present in the vaginal plug. POSVP(21) accounts for over 22.3% of soluble proteins from homogenate during the breeding season, 13.3% during the middle season and 5.3% during the hormonal regression season. It is absent during the non-breeding season. POSVP(21) is localized in the cytoplasm of epithelial cells and in secretory products in the lumen. It presents an immunological homology with two epididymal proteins with the same molecular weight and a high degree of homology with transgelin from rat (Rattus norvegicus).


Assuntos
Gerbillinae/fisiologia , Proteínas dos Microfilamentos/metabolismo , Proteínas Musculares/metabolismo , Proteínas de Plasma Seminal/metabolismo , Glândulas Seminais/metabolismo , Animais , Citoplasma/metabolismo , Células Epiteliais/citologia , Células Epiteliais/metabolismo , Masculino , Proteínas dos Microfilamentos/análise , Peso Molecular , Proteínas Musculares/análise , Ratos , Estações do Ano , Proteínas de Plasma Seminal/química
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