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Neonatology pp 1549–1559Cite as

Neonatal Hereditary Neutropenia

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Abstract

Hereditary neutropenia includes many disorders of distinct origin and variable prognosis, characterized by a reduction of the absolute neutrophil count (ANC) below 0.5 × 109/l, that predisposes patients to bacterial infections of variable severity, in particular pyogenic infections, such as cutaneous cellulitis, deep abscesses, pneumonia, and sepsis. The diagnosis of severe congenital neutropenia (SCN) is usually made on the basis of patient history and physical examination, and of a severe neutropenia with normal or near normal hemoglobin level and platelet count, while bone marrow examination reveals in most cases the typical defect of neutrophils, with myeloid cell differentiation arrest at the promyelocyte stage, and very few myelocytes and metamyelocytes.

The most common monogenic congenital neutropenia are usually classified according to the presence or absence of association with innate or adaptive immunodeficiency, or with extrahematopoietic manifestations, like involvement of the pancreas, central nervous system, heart, muscle, and skin.

Most of the forms of congenital neutropenia are extremely rare, about six cases per one million; some genes have been only found in a few families. The inheritance is monogenic, which may be autosomal (dominant or recessive), or X-linked. During the last few years, several genetic causes of neutropenia have been elucidated.

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Author information

Authors and Affiliations

  1. Neonatology and Intensive Neonatal Therapy Unit, Spedali Civili of Brescia, Brescia, Italy

    Gaetano Chirico

  2. Pediatric Oncohematology and Bone Marrow Transplant, Spedali Civili Hospital, Brescia, Italy

    Carmelita D’Ippolito

Authors
  1. Gaetano Chirico
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  2. Carmelita D’Ippolito
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Corresponding author

Correspondence to Gaetano Chirico .

Editor information

Editors and Affiliations

  1. Department of Pediatrics Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy

    Giuseppe Buonocore

  2. Department of Pediatrics Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy

    Rodolfo Bracci

  3. Liverpool Women’s Hospital Neonatal Unit, Liverpool, UK

    Michael Weindling

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Chirico, G., D’Ippolito, C. (2018). Neonatal Hereditary Neutropenia. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-29489-6_244

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  • DOI: https://doi.org/10.1007/978-3-319-29489-6_244

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-29487-2

  • Online ISBN: 978-3-319-29489-6

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