Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE‐related neutropenia: a French Severe Chronic Neutropenia Registry study. (2nd August 2021)

• Record Type: Journal Article
• 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
• Other Names: Gouache Elodie investigator.; Alby‐Laurent Fanny investigator.; Bertrand Yves investigator.; Rohrlich Pierre‐Simon investigator.; Jeziorksi Eric investigator.; Carausu Liana investigator.; Michel Marc investigator.; Te Valérie L. T. investigator.; Bensaid Philippe investigator.; de Pontual Loïc investigator.; Terriou Louis investigator.; Schleinitz Nicolas investigator.; Yakouben Karima investigator.; Mahlaoui Nizar investigator.; Suarez Felipe investigator.; Delbrel Xavier investigator.; Adjaoud Dalila investigator.; Stephan Jean‐Louis investigator.; Leverger Guy investigator.; Fouyssac Fanny investigator.; Garnier Alice investigator.; Sileo Chiara investigator.; Moignet Aline investigator.; Cheikh Nathalie investigator.; Bodet Damien investigator.; Dore Eric investigator.; Neumann Florent investigator.; Jardin Fabrice investigator.
• Is Part Of: British journal of haematology. Volume 194:Number 5(2021)
• Page Start: 908
• Page End: 920
• Publication Date: 2021-08-02
• Subjects: severe congenital neutropenia -- ELANE‐related neutropenia -- opportunistic infections; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.17695
• Languages: English
• ISSNs: 0007-1048

Abstract

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/mm 3 ), high lymphocyte count (>3000/mm 3 ) 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.