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trastorno de inmunodeficiencia primaria raro, de causa genética, caracterizado por neutropenia congénita severa, fibrosis de la médula ósea y disfunción de los neutrófilos, refractario al factor estimulante de colonias de granulocitos y que se manifiesta con infecciones potencialmente fatales y/o abscesos profundos, hepatoesplenomegalia, trombocitopenia, hipergammaglobulinemia, anemia con reticulocitosis y nefromegalia. Otras características informadas incluyen osteoesclerosis y anomalías neurológicas (por ejemplo, retraso del desarrollo, ceguera cortical, hipoacusia, cuerpo calloso delgado o disritmia en el EEG). 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