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\begin{document}

\title{Novel mutation in CECR1 gene associated with deficiency of adenosine
deaminase -2 presenting as severe congenital neutropenia}



\author[1]{Pronamee Borah}%
\author[1]{Preethi Jeyaraman}%
\author[1]{Nitin Dayal}%
\author[1]{Prasan Deep Rath}%
\author[1]{Rahul Naithani}%
\affil[1]{Max Super Speciality Hospital Saket}%


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  \date{May 22, 2024}


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\begin{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.%
\end{abstract}%



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