Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE‐related neutropenia: a French Severe Chronic Neutropenia Registry study

Summary Among 143 patients with elastase, neutrophil‐expressed (ELANE)‐related neutropenia enrolled in the French Severe Chronic Neutropenia Registry, 94 were classified as having severe chronic neutropenia (SCN) and 49 with cyclic neutropenia (CyN). Their infectious episodes were classified as seve...

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Published in:	British journal of haematology Vol. 194; no. 5; pp. 908 - 920
Main Authors:	Rotulo, Gioacchino A., Plat, Geneviève, Beaupain, Blandine, Blanche, Stéphane, Moushous, Despina, Sicre de Fontbrune, Flore, Leblanc, Thierry, Renard, Cécile, Barlogis, Vincent, Vigue, Marie‐Gabrielle, Freycon, Claire, Piguet, Christophe, Pasquet, Marlène, Fieschi, Claire, Abou‐Chahla, Wadih, Gandemer, Virginie, Rialland, Fanny, Millot, Frédéric, Marie‐Cardine, Aude, Paillard, Catherine, Levy, Pacifique, Aladjidi, Nathalie, Biosse‐Duplan, Martin, Bellanné‐Chantelot, Christine, Donadieu, Jean, Gouache, Elodie, Alby‐Laurent, Fanny, Bertrand, Yves, Rohrlich, Pierre‐Simon, Jeziorksi, Eric, Carausu, Liana, Michel, Marc, Te, Valérie L. T., Bensaid, Philippe, Pontual, Loïc, Terriou, Louis, Schleinitz, Nicolas, Yakouben, Karima, Mahlaoui, Nizar, Suarez, Felipe, Delbrel, Xavier, Adjaoud, Dalila, Stephan, Jean‐Louis, Leverger, Guy, Fouyssac, Fanny, Garnier, Alice, Sileo, Chiara, Moignet, Aline, Cheikh, Nathalie, Bodet, Damien, Dore, Eric, Neumann, Florent, Jardin, Fabrice
Format:	Journal Article
Language:	English
Published:	England Blackwell Publishing Ltd 01-09-2021 Wiley
Subjects:	Adolescent Adult Bacterial infections Bacterial Infections - etiology Bacterial Infections - genetics Cell number Cellulitis Child Colony-stimulating factor ELANE‐related neutropenia Elastase Follow-Up Studies France - epidemiology Fungal infections Genetic Variation Genotypes Hematology Hematopoietic Stem Cell Transplantation Hematopoietic stem cells Humans Infant Leukemia Leukocyte Elastase - analysis Leukocyte Elastase - genetics Leukocytes (granulocytic) Leukocytes (neutrophilic) Life Sciences Lymphocytes Mycoses - etiology Mycoses - genetics Myelodysplastic syndrome Neutropenia Neutropenia - complications Neutropenia - genetics Neutropenia - therapy opportunistic infections Recurrence Registries severe congenital neutropenia Transplantation Young Adult France opportunistic infections severe congenital neutropenia ELANE-related neutropenia
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Summary:	Summary Among 143 patients with elastase, neutrophil‐expressed (ELANE)‐related neutropenia enrolled in the French Severe Chronic Neutropenia Registry, 94 were classified as having severe chronic neutropenia (SCN) and 49 with cyclic neutropenia (CyN). Their infectious episodes were classified as severe, mild or oral, and analysed according to their natural occurrence without granulocyte‐colony stimulating factor (G‐CSF), on G‐CSF, after myelodysplasia/acute leukaemia or after haematopoietic stem‐cell transplantation. During the disease’s natural history period (without G‐CSF; 1913 person‐years), 302, 957 and 754 severe, mild and oral infectious events, respectively, occurred. Among severe infections, cellulitis (48%) and pneumonia (38%) were the most common. Only 38% of episodes were microbiologically documented. The most frequent pathogens were Staphylococcus aureus (37·4%), Escherichia coli (20%) and Pseudomonas aeruginosa (16%), while fungal infections accounted for 1%. Profound neutropenia (<200/mm3), high lymphocyte count (>3000/mm3) and neutropenia subtype were associated with high risk of infection. Only the p.Gly214Arg variant (5% of the patients) was associated with infections but not the overall genotype. The first year of life was associated with the highest infection risk throughout life. G‐CSF therapy achieved lower ratios of serious or oral infectious event numbers per period but was less protective for patients requiring >10 µg/kg/day. Infections had permanent consequences in 33% of patients, most frequently edentulism.
Bibliography:	1 . French Severe Chronic Neutropenia Registry are listed in Appendix ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0007-1048 1365-2141
DOI:	10.1111/bjh.17695