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inmunodeficiencia combinada severa caracterizada por microcefalia, retraso del crecimiento y linfopenia T y B. Los pacientes se presentan en la infancia con retraso del crecimiento, microcefalia, malformaciones urogenitales y óseas, rasgos dismórficos, incluyendo dismorfismo facial tipo \"cara de pájaro\" y signos de inmunodeficiencia combinada. Algunos pacientes también pueden presentar citopenias autoinmunitarias. La enfermedad se produce por mutaciones en el gen NHEJ1 (o Cernunnos) (2q35). El defecto resultante de cernunnos/XLF, una proteína esencial de la vía clásica de unión de extremos no homólogos (NHEJ), afecta al mecanismo principal de reparación de las roturas de la doble cadena de ADN. 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