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Novel mutation in CECR1 gene associated with deficiency of adenosine deaminase -2 presenting as severe congenital neutropenia
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  • Pronamee Borah,
  • Preethi Jeyaraman,
  • Nitin Dayal,
  • Prasan Deep Rath,
  • Rahul Naithani
Pronamee Borah
Max Super Speciality Hospital Saket

Corresponding Author:[email protected]

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Preethi Jeyaraman
Max Super Speciality Hospital Saket
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Nitin Dayal
Max Super Speciality Hospital Saket
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Prasan Deep Rath
Max Super Speciality Hospital Saket
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Rahul Naithani
Max Super Speciality Hospital Saket
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Abstract

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.