Omenn syndrome is associated with mutations in DNA ligase IV
E Grunebaum, A Bates, CM Roifman - Journal of Allergy and Clinical …, 2008 - jacionline.org
The girl, born to nonconsanguineous parents after an uneventful pregnancy, weighed 2.5 kg
(3rd percentile), and her head circumference was 30 cm (< 3rd percentile). At 3 weeks of
age, she developed protracted universal scaly erythroderma, hepatosplenomegaly,
generalized lymphadenopathy, and diarrhea. The rash and diarrhea improved after
treatment with cyclosporine A but worsened on discontinuation of treatment. Eosinophils
were markedly increased (2120 cells/mL; normal, 5-700 cells/mL). Evaluation of the immune …
(3rd percentile), and her head circumference was 30 cm (< 3rd percentile). At 3 weeks of
age, she developed protracted universal scaly erythroderma, hepatosplenomegaly,
generalized lymphadenopathy, and diarrhea. The rash and diarrhea improved after
treatment with cyclosporine A but worsened on discontinuation of treatment. Eosinophils
were markedly increased (2120 cells/mL; normal, 5-700 cells/mL). Evaluation of the immune …