RESUMEN
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Asunto(s)
Humanos , Masculino , Femenino , Enfermedad Granulomatosa Crónica/diagnóstico , Enfermedad Granulomatosa Crónica/genética , Enfermedad Granulomatosa Crónica/inmunología , Mycobacterium tuberculosis/genética , Mycobacterium tuberculosis/inmunología , Mycobacterium tuberculosis/patogenicidad , Mutación/inmunología , Mutación/fisiología , NADPH Oxidasas/inmunología , NADPH Oxidasas/uso terapéutico , Burkholderia cepacia/patogenicidad , Staphylococcus aureus/patogenicidad , Salmonella/patogenicidad , Serratia marcescens/patogenicidad , Nocardia/patogenicidad , Aspergillus/patogenicidad , Infecciones por Mycobacterium no Tuberculosas/inmunología , Infecciones por Mycobacterium no Tuberculosas/patología , Rifampin/uso terapéutico , Isoniazida/uso terapéutico , Clotrimazol/uso terapéutico , Tuberculosis/inmunología , Tuberculosis/patologíaRESUMEN
X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by mutations in the nuclear factor-kappa B essential modulator (NEMO) gene. Here, we report the clinical and genetic features of a XL-EDA-ID patient who developed bacillus Calmette-Guerin infection. Patient lymphocytes failed to degrade IB-, and sequencing of NEMO identified the novel mutation c.1238A>C/p.H413P. Furthermore, patient monocyte-derived macrophages ingested Mycobacterium tuberculosis normally, but failed to control the intracellular proliferation of bacilli, a defect which was improved in the presence of interferon-gamma (IFN-). This work expands the genetic spectrum of XL-EDA-ID and demonstrates improvement in macrophage function in a NEMO-deficient patient by IFN-