Diagnostic guidance for hereditary neutropenia in children: Narrative literature review

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Published Oct 29, 2023
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Vol. 101 No. 7 (2023): Tunis med jul 2023

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Zakaria Kasmi
Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca , University of HASSAN II, Casablanca, Morocco
Jalila El Bakkouri
Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca , University of HASSAN II, Casablanca, Morocco/ Laboratory of Immunology, CHU Ibn Rochd, Casablanca, Morocco
Fatima Ailal
Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca , University of HASSAN II, Casablanca, Morocco/Clinical Immunology Unit, Department of infectious pediatrics , Hospital of Mère-Enfant Abderrahim Harouchi, Casablanca, Morocco
Bouchra Oukkache
Laboratory of Hematology , CHU Ibn Rochd, Casablanca, Morocco
Jean Donadieu
Department of Pediatric Hematology and Oncology, Hospital of Trousseau, Paris, France
Ahmed Aziz Bousfiha
Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca , University of HASSAN II, Casablanca, Morocco/ Laboratory of Immunology, CHU Ibn Rochd, Casablanca, Morocco

Abstract

In the era of genomics, orientation in the face of hereditary neutropenia still requires, first and foremost, a good clinical and cytological analysis. The thirty responsible genes now explain 60% of congenital neutropenia. These are rare since they are only found in 1‰ of all congenital neutropenia, estimated at 1% of the population. The clinical examination looks for phenotypes associated with syndromic hereditary neutropenia and cytology will guide this etiological research thanks to the data collected from blood count and bone marrow analysis.


The objective of this narrative literature review is to provide an overview of the most recent literature regarding acquired and congenital chronic neutropenia and will provide a decision tree to guide towards aetiology. This will allow a better discussion with geneticists even if the genotype-phenotype correlation is not very strong.

Keywords:

Congenital neutropenia, chronic neutropenia, hereditary neutropenia

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