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caracterizada por anemia microcítica severa, linfopenia de linfocitos B, panhipogammaglobulinemia y neurodegeneración variable. La enfermedad se presenta en la lactancia con enfermedades febriles recurrentes, alteraciones gastrointestinales, retraso del desarrollo, convulsiones, ataxia y sordera neurosensitiva. La mayoría de los pacientes requieren transfusiones sanguíneas regulares, quelación de hierro e sustitución de inmunoglobulinas por vía intravenosa. Se informó que el trasplante de células pluripotenciales puede ser exitoso. 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