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Neonatology pp 1549-1559 | Cite as

Neonatal Hereditary Neutropenia

  • Gaetano Chirico
  • Carmelita D’Ippolito
Reference work entry

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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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Neonatology and Intensive Neonatal Therapy UnitSpedali Civili of BresciaBresciaItaly
  2. 2.Pediatric Oncohematology and Bone Marrow TransplantSpedali Civili HospitalBresciaItaly

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