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Severe Congenital Neutropenia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Severe congenital neutropenia (SCN) represents a heterogeneous group of rare hematological disorders characterized by neutropenia (shortage of neutrophils due to impaired maturation of neutrophil granulocytes), susceptibility to recurrent infections (in the sinuses, lungs, and liver) early in life, decreased bone density (osteopenia, 40% of cases) and increased risk for myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) during adolescence (20% of cases).
The Child with Recurrent Infections
Published in Michael B O’Neill, Michelle Mary Mcevoy, Alf J Nicholson, Terence Stephenson, Stephanie Ryan, Diagnosing and Treating Common Problems in Paediatrics, 2017
Michael B O’Neill, Michelle Mary Mcevoy, Alf J Nicholson, Terence Stephenson, Stephanie Ryan
Phagocytic defects (10% of all PIDs):chronic granulomatous disease (1:200 000)severe congenital neutropenia (1:300 000)cyclical neutropenia (1:100 000)
Hematological problems in the neonate
Published in Prem Puri, Newborn Surgery, 2017
Andrea M. Malone, Owen P. Smith
Severe congenital neutropenia (SCN) is a heterogenous group of disorders characterized by severe neutropenia, maturation arrest of bone marrow myeloid precursors, and recurrent bacterial infections. Diagnosis is made on bone marrow biopsy and confirmed with genetic testing. Originally described by Kostmann with autosomal recessive inheritance, genetic discovery has broadened the spectrum of SCN inheritance. Autosomal dominant, X-linked, and sporadic causative mutations exist with 50%–60% of patients having a mutation in the neutrophil elastase gene ELA2 (ELANE). Other mutations reported to cause SCN include mutations in the HAX1, G6PC3, WAS, GFI1, and JAGN1.14 Before the introduction of modern therapies, SCN was highly fatal. Treatment with G-CSF is standard, although development of myelodysplastic syndrome or leukemia is a concern with long-term use. For the minority who fail to respond adequately to G-CSF, HSCT should be considered.14
Chronic neutropenia: how best to assess severity and approach management?
Published in Expert Review of Hematology, 2021
Jean Donadieu, Stephanie Frenz, Lauren Merz, Flore Sicre De Fontbrune, Gioacchino Andrea Rotulo, Blandine Beaupain, Martin Biosse-Duplan, Marie Audrain, Laure Croisille, Phil Ancliff, Christoph Klein, Christine Bellanné-Chantelot
Before the era of G-CSF, allogeneic HSCT was the only curative treatment for severe congenital neutropenia. The currently validated indications for HSCT in congenital neutropenia are: non-response to G-CSF, clonal evolution with acute myeloid leukemia/myelodysplastic syndrome or molecular or cytogenetic marrow evidence of a pre-leukemic state, the occurrence of refractory pancytopenia, and long-term use of high doses of G-CSF (>15 µg/kg/day) [13,75]. In patients with GATA2 deficiency, HSCT should strongly be considered in the case of severe immune deficiency or alveolar proteinosis.
Cyclic manner of neutropenia in a patient with HAX-1 mutation
Published in Pediatric Hematology and Oncology, 2018
Funda Erol Cipe, Mehmet Halil Celiksoy, Biray Erturk, Çiğdem Aydogmus
Severe congenital neutropenia is rare but more common than cyclic neutropenia [3–6, 11]. The blood neutrophil count is generally <0.2 × 109/L, and the risk of severe bacterial infections is greater than in cyclic neutropenia. Our patient had recurrent aphthous stomatitis, upper respiratory tract infections, and rarely otitis during neutropenic periods. However, during periods of persistent neutropenia, she had no serious infections. Clinically, the mild infections were more suggestive of cyclic neutropenia than congenital neutropenia.
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist
Published in Pediatric Hematology and Oncology, 2023
Jutte van der Werff ten Bosch, Eva Hlaváčková, Charlotte Derpoorter, Ute Fischer, Francesco Saettini, Sujal Ghosh, Roula Farah, Delfien Bogaert, Rabea Wagener, Jan Loeffen, Chris M Bacon, Simon Bomken
Congenital defects of phagocyte number or function (group V) such as severe congenital neutropenia (SCN), and GATA2 deficiency, as well as bone marrow failure disorders (group IX) such as those caused by SAMD9(L) mutations, are associated with an increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Severe congenital neutropenia is usually diagnosed at an early age and malignancy will not be the first symptom in these patients.37–40