Late-onset and long-lasting autoimmune neutropenia: An analysis from the Italian Neutropenia Registry

Francesca Fioredda, Gioacchino Andrea Rotulo, Piero Farruggia, Francesca Dagliano, Marta Pillon, Angela Trizzino, Lucia Notarangelo, Laura Luti, Tiziana Lanza, Paola Terranova, Marina Lanciotti, Isabella Ceccherini, Alice Grossi, Laura Porretti, Federico Verzegnassi, Elena Mastrodicasa, Angelica Barone, Giovanna Russo, Sonia Bonanomi, Gianluca BoscarolAndrea Finocchi, Marinella Veltroni, Ugo Ramenghi, Daniela Onofrillo, Baldassare Martire, Roberta Ghilardi, Paola Giordano, Saverio Ladogana, Nicoletta Marra, Sabrina Zanardi, Fabian Beier, Maurizio Miano, Carlo Dufour

Research output: Contribution to journalArticlepeer-review


Primary autoimmune neutropenia (pAN) is typified by onset in early infancy and a mild/ moderate phenotype that resolves within 3 years of diagnosis. In contrast, secondary AN is classically an adult disease associated with malignancy, autoimmunity, immunodeficiency, viral infection, or drugs. This study describes a cohort of 79 children from the Italian Registry who, although resembling pAN, did not fully match the criteria for pAN because neutropenia either appeared after age 5 years (LO-Np) or lasted longer than 3 years (LL-Np). These 2 categories compared with classical pAN showed a far inferior rate of resolution (P,.001), lower severity of neutropenia (P 5.03), leukopenia (P,.001), lymphopenia (P,.001) with low B1 (P 5.001), increased need of granulocyte colony-stimulating factor (P 5.04), and increased frequency of autoimmunity over the disease course (P,.001). A paired comparison between LO-Np and LL-Np suggested that LO-Np had a lower rate of resolution (P,.001) and lower white blood cell (P,.001) and lymphocyte (P,.001) values, higher occurrence of apthae (P 5.008), and a stronger association with autoimmune diseases/ markers (P 5.001) than LL-Np, thus suggesting a more pronounced autoimmune signature for LO-Np. A next-generation sequencing panel applied in a small subgroup of LO-Np and LL-Np patients identified variants related to immune dysregulations. Overall, these findings indicate that there are important differences among pAN LL-Np and LO-Np. Forms rising after 3 years of age, with low tendency to resolution, require tight monitoring and extensive immune investigations aimed to early identify underlying immunologic disease.

Original languageEnglish
Pages (from-to)5644-5649
Number of pages6
JournalBlood advances
Issue number22
Publication statusPublished - Nov 24 2020

ASJC Scopus subject areas

  • Hematology


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