Article
Homozygous DBF4 mutation as a cause of severe congenital neutropenia.
The Journal of allergy and clinical immunology - 1 Jul 2023
Willemsen Mathijs, Barber John S, Nieuwenhove Erika Van, Staels Frederik, Gerbaux Margaux, Neumann Julika, Prezzemolo Teresa, Pasciuto Emanuela, Lagou Vasiliki, Boeckx Nancy, Filtjens Jessica, De Visscher Amber, Matthys Patrick, Schrijvers Rik, Tousseyn Thomas, O'Driscoll Mark, Bucciol Giorgia, Schlenner Susan, Meyts Isabelle, Humblet-Baron Stephanie, Liston Adrian
Abstract excerpt
BACKGROUND: Severe congenital neutropenia presents with recurrent infections early in life as a result of arrested granulopoiesis. Multiple genetic defects are known to block granulocyte differentiation; however, a genetic cause remains unknown in approximately 40% of cases. OBJECTIVE: We aimed to characterize a patient with severe congenital neutropenia and syndromic features without a genetic diagnosis....
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