Novel mutation in CECR1 gene associated with deficiency of adenosine deaminase -2 presenting as severe congenital neutropenia
| العنوان: | Novel mutation in CECR1 gene associated with deficiency of adenosine deaminase -2 presenting as severe congenital neutropenia |
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| المؤلفون: | Pronamee Borah, Preethi Jeyaraman, Nitin Dayal, Prasan Deep Rath, Rahul Naithani |
| بيانات النشر: | Authorea, Inc., 2022. |
| سنة النشر: | 2022 |
| الوصف: | Children with congenital neutropenia frequently require hospitalization due to febrile neutropenia. Deficiency of Adenosine DeAminase -2(DADA-2) an autosomal recessive disorder caused by a mutation in CECR1 gene. It is an autoinflammatory disease presenting with autoimmunity and features of immunodeficiency. It usually presents in early childhood with recurrent stroke and vasculitis features. Here, we report a young male with CECR1 mutation presenting predominantly with neutropenia. |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::a9f346efe77cf722b96b021343ee79b8 https://doi.org/10.22541/au.165509824.42340802/v1 |
| رقم الأكسشن: | edsair.doi...........a9f346efe77cf722b96b021343ee79b8 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |