RESUMEN
We describe the case of an infant with recurrent episodes of staphylococcal skin abscess and subsequent lethal pneumococcal meningitis/septicemia due to interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency. In this case, systemic signs of inflammatory response were poor and delayed. Among all other reported cases of IRAK-4 deficiency, none involved severe viral or fungal disease, and the range of infecting bacteria was narrow.
Asunto(s)
Absceso/complicaciones , Síndromes de Inmunodeficiencia/complicaciones , Meningitis Neumocócica/complicaciones , Sepsis/etiología , Infecciones Estafilocócicas/complicaciones , Staphylococcus aureus/aislamiento & purificación , Absceso/diagnóstico , Absceso/microbiología , Resultado Fatal , Femenino , Estudios de Seguimiento , Humanos , Síndromes de Inmunodeficiencia/diagnóstico , Lactante , Quinasas Asociadas a Receptores de Interleucina-1 , Meningitis Neumocócica/diagnóstico , Meningitis Neumocócica/microbiología , Enfermedades de Inmunodeficiencia Primaria , Sepsis/diagnóstico , Sepsis/microbiología , Infecciones Estafilocócicas/diagnóstico , Infecciones Estafilocócicas/microbiologíaAsunto(s)
Corticoesteroides/uso terapéutico , Trastornos Migrañosos/tratamiento farmacológico , Trastornos Migrañosos/etiología , Oftalmoplejía/complicaciones , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Trastornos Migrañosos/fisiopatología , Oftalmoplejía/diagnóstico , Dolor/tratamiento farmacológico , Dolor/etiología , Dolor/fisiopatología , Dimensión del Dolor , Medición de Riesgo , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
In this article, we first report a case of recurrent paroxysmal cold hemoglobinuria with serologic confirmation. On 2 occasions, the Donath-Landsteiner (DL) antibodies belonged to an IgM subclass and showed neither anti-P nor anti-I specificity. Furthermore, it is very interesting that the temperature thresholds of DL antibodies were different on each occasion. Although acute paroxysmal cold hemoglobinuria is considered to be self-limited and transient, we should be careful of its possible recurrence. DL tests must be repeated after the complete recovery from the first episode, with careful attention to several possible causes of false-negative DL tests.