RESUMO
No disponible
Assuntos
Humanos , Masculino , Feminino , Doença Granulomatosa Crônica/diagnóstico , Doença Granulomatosa Crônica/genética , Doença Granulomatosa Crônica/imunologia , Mycobacterium tuberculosis/genética , Mycobacterium tuberculosis/imunologia , Mycobacterium tuberculosis/patogenicidade , Mutação/imunologia , Mutação/fisiologia , NADPH Oxidases/imunologia , NADPH Oxidases/uso terapêutico , Burkholderia cepacia/patogenicidade , Staphylococcus aureus/patogenicidade , Salmonella/patogenicidade , Serratia marcescens/patogenicidade , Nocardia/patogenicidade , Aspergillus/patogenicidade , Infecções por Mycobacterium não Tuberculosas/imunologia , Infecções por Mycobacterium não Tuberculosas/patologia , Rifampina/uso terapêutico , Isoniazida/uso terapêutico , Clotrimazol/uso terapêutico , Tuberculose/imunologia , Tuberculose/patologiaRESUMO
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-
