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Kostmann disease and other forms of severe congenital neutropenia
Author(s) -
Fadeel Bengt,
Garwicz Daniel,
Carlsson Göran,
Sandstedt Bengt,
Nordenskjöld Magnus
Publication year - 2021
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.16005
Subject(s) - congenital neutropenia , medicine , neutropenia , myelopoiesis , disease , immunology , progenitor cell , genetics , pathology , chemotherapy , biology , stem cell
Congenital neutropenia with autosomal recessive inheritance was first described by the Swedish paediatrician Rolf Kostmann who coined the term ‘infantile genetic agranulocytosis’. The condition is now commonly referred to as Kostmann disease. These patients display a maturation arrest of the myelopoiesis in the bone marrow and reduced neutrophil numbers and suffer from recurrent, often life‐threatening infections. The molecular mechanism underlying congenital neutropenia has been intensively investigated, and mutations in genes that impinge on programmed cell death have been identified. The present review provides an overview of these studies.