Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Cyclic Neutropenia

Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_137-1



Cyclic neutropenia (OMIM #162800) is an autosomal dominant or de novo autosomal disease caused by mutations on the ELANE (formerly known as ELA2) gene that encodes for neutrophil elastase. ELANE gene localization is 19p13.3.


Cyclic neutropenia was first mentioned by Reimann and DeBerardinis in the 1940s as they observed a cyclic phenomenon of increase and decrease in neutrophil counts within 18–21 days (Donadieu et al. 2017). In 1999, Horwitz and colleagues identified mutations in the neutrophil elastase gene (ELANE), which were also found in patients with severe congenital neutropenia 1 (SCN1, OMIM #202700). As the same mutation is observed in patients with cyclic neutropenia and permanent SCN and the cyclic aspect is rarely seen in clinical practice, some authors believe that there is a continuum between SCN and intermittent/cyclic neutropenia (Donadieu et al. 2017). Additionally, intermittent neutropenia...

This is a preview of subscription content, log in to check access.


  1. Cipe FE, Celiksoy MH, Erturk B, Aydogmus Ç. Cyclic manner of neutropenia in a patient with HAX-1 mutation. Pediatr Hematol Oncol. 2018;35:181–5.CrossRefGoogle Scholar
  2. Costa-Carvalho BT, Grumach AS, Franco JL, Espinosa-Rosales FJ, et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol. 2014;34:10–22.CrossRefGoogle Scholar
  3. Dale DC. How I diagnose and treat neutropenia. Curr Opin Hematol. 2016;23:1–4.CrossRefGoogle Scholar
  4. Donadieu J, Beaupain B, Fenneteau O, Bellanné-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179:557–74.CrossRefGoogle Scholar
  5. Kuruvilla M, de la Morena MT. Antibiotic prophylaxis in primary immune deficiency disorders. J Allergy Clin Immunol Pract. 2013;1:573–82.CrossRefGoogle Scholar
  6. Skokowa J, Dale DC, Touw IP, et al. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032.CrossRefGoogle Scholar
  7. Sobh A, Bonilla FA. Vaccination in primary immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4:1066–75.CrossRefGoogle Scholar
  8. Spoor J, Farajifard H, Rezaei N. Congenital neutropenia and primary immunodeficiency diseases. Crit Rev Oncol Hematol. 2019;133:149–62.CrossRefGoogle Scholar
  9. Xia J, Link DC. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol. 2008;15:1–7.CrossRefGoogle Scholar

Authors and Affiliations

  1. 1.Division of Clinical Immunology and Allergy, Department of Clinical MedicineState University of Campinas (UNICAMP)CampinasBrazil

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Department of ImmunologyInstitute of Biomedical Sciences – University of São PauloSão PauloBrazil