RESUMEN
Throughout pregnancy, the decidua is predominantly populated by NK lymphocytes expressing Killer immunoglobulin-like receptors (KIR) that recognize human leukocyte antigen-C (HLA-C) ligands from trophoblast cells. This study aims to investigate the association of KIR-HLA-C phenotypes in couples facing infertility, particularly recurrent pregnancy loss (RPL) and recurrent implantation failure (RIF), in comparison to a reference population and fertile controls. This observational, non-interventional retrospective case-control study included patients consecutively referred to our Reproductive Immunology Unit from 2015 to 2019. We analyzed the frequencies of KIR and HLA-C genes. As control groups, we analyzed a reference Spanish population for KIR analysis and 29 fertile controls and their male partners for KIR and HLA-C combinations. We studied 397 consecutively referred women with infertility and their male partners. Among women with unexplained RPL (133 women) and RIF (176 women), the centromeric (cen)AA KIR genotype was significantly more prevalent compared to the reference Spanish population (p = 0.001 and 0.02, respectively). Furthermore, cenAA was associated with a 1.51-fold risk of RPL and a 1.2-fold risk of RIF. Conversely, the presence of BB KIR showed a lower risk of reproductive failure compared to non-BB KIR (OR: 0.12, p < 0.001). Women and their partners with HLA-C1C1/C1C1 were significantly less common in the RPL-Group (p < 0.001) and RIF-Group (p = 0.002) compared to the control group. Moreover, the combination of cenAA/C1C1 in women with C1C1 partners was significantly higher in the control group than in the RPL (p = 0.009) and RIF (p = 0.04) groups, associated with a 5-fold increase in successful pregnancy outcomes. In our cohort, the cenAA KIR haplotype proved to be a more accurate biomarker than the classic AA KIR haplotype for assessing the risk of RPL and RIF, and might be particularly useful to identify women at increased risk among the heterogeneous KIR AB or Bx population. The classification of centromeric KIR haplotypes outperforms classical KIR haplotypes, making it a better indicator of potential maternal-fetal KIR-HLA-C mismatch in patients.
Asunto(s)
Aborto Habitual , Infertilidad , Embarazo , Humanos , Masculino , Femenino , Antígenos HLA-C/genética , Estudios Retrospectivos , Secuencias de Aminoácidos , Estudios de Casos y Controles , Aborto Habitual/genética , Receptores KIR/genética , Infertilidad/genética , BiomarcadoresRESUMEN
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency (PID) in general population. PID are genetic diseases that share a dysfunction in the immune system entailing a greater risk of both chronic and recurrent infections. These patients can also develop chronic gastrointestinal infections caused by norovirus with persistent viral dissemination, which can be detect ed months after primoinfection. Additionally, a proportion of CVID patients show a typical severe enteropathy presenting with recurrent diarrhoea, intestinal malabsorption, inflammatory lesions, and villous atrophy. Some studies have related this enteropathy with chronic intestinal infection caused by norovirus. (AU)
Asunto(s)
Humanos , Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/patología , Infecciones por Caliciviridae , Diarrea , Enfermedades GastrointestinalesRESUMEN
Describimos el caso de una paciente con historia de pericarditis recurrentes de 16 años de evolución sin fiebre objetivable ni de patrón recurrente. Se le realizan múltiples estudios tratando de averiguar la etiología de la enfermedad. Finalmente, surge la sospecha de fiebre mediterránea familiar con la confirmación diagnostica de la amplificación genética específica de los exones 2 y 10 del gen MEFV. Destacamos la importancia de la sospecha diagnóstica en casos atípicos (AU)
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Asunto(s)
Adulto , Femenino , Humanos , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/inmunología , Fiebre Mediterránea Familiar/prevención & control , Diagnóstico Diferencial , Colchicina/inmunología , Colchicina/uso terapéutico , Fiebre Mediterránea Familiar/etiología , Anamnesis , Serositis/inmunología , Serositis/microbiología , Electrocardiografía/métodos , Dolor en el Pecho/etiología , Dolor en el Pecho , Derrame Pleural/inmunología , Derrame PleuralRESUMEN
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