Congenital neutropenia — diagnostics and management

Abstract

Congenital neutropenias are a group of rare primary immunodeficiency disorders, characterized by persistent decline in absolute neutrophil count below 0,5 G/l. Suspicion of congenital neutropenia is usually raised within the first 6 months of life, when an infant presents with recurrent gingivitis, mouth and rectal ulcerations, but also severe, often life-threatening bacterial infection. Mortality from sepsis has decreased considerably since the introduction of recombinant granulocyte colony stimulating factors (G-CSF); nevertheless, in some cases hematopoietic stem cell transplantation remains the only possible therapy. In the last decade remarkable progress in molecular diagnostics of congenital neutropenia has been made — depending on genetic background 4 different types of severe congenital neutropenia are now distinguished, as well as a number of syndromes associated with chronic neutropenia. The diseases are usually divided into a group of congenital neutropenia with or without hipopigmentation. This paper reviews the most common congenital neutropenia syndromes; including available diagnostic and management procedures.
Hematologia 2011; 2, 1: 63–70