SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Cyclic neutropenia
Other Resources UpToDate PubMed

Cyclic neutropenia

Contributors: Nina Haghi MD, Carla Casulo MD, Paritosh Prasad MD
Other Resources UpToDate PubMed


Cyclic neutropenia is a rare congenital blood disorder characterized by a predictable cyclic drop in neutrophils (neutropenia) followed by an inflammatory response generally due to infection in the setting of neutropenia, occurring approximately every 2-4 weeks. This condition is usually inherited in an autosomal dominant pattern; however, sporadic cases may occur.

The condition is identified in 1 in 1 million people worldwide and is due to mutations in the ELANE gene resulting in an abnormal neutrophil elastase protein. The condition is inherited in an autosomal dominant fashion.

Cyclic neutropenia presents in the first year of life with recurring symptoms of fever, malaise, and oropharyngeal and/or skin infection (eg, stomatitis, gingivitis, pharyngitis, sinusitis). Usually by the time symptoms appear, the neutrophil counts have recovered. Infection is mild; however, severe cases have been reported. More severe cases will present with abdominal pain and vomiting (neutropenic ileocolitis) and even death.


D70.4 – Cyclic neutropenia

191347008 – Cyclic neutropenia

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Periodic fever syndromes (ie, Familial Mediterranean fever, TNF receptor-associated periodic syndrome, Hyperimmunoglobulinemia D syndrome)
  • Shwachman-Diamond syndrome
  • Lymphoproliferative disorders of large granular lymphocytes
  • Primary immunodeficiencies
  • Aplastic anemia with Acquired pancytopenia
  • Acute myeloid leukemia
  • Rheumatoid arthritis / Systemic lupus erythematosus
  • Felty syndrome
  • Reactive granulocytopenia from medication or viruses

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Reviewed:09/09/2018
Last Updated:01/12/2022
Copyright © 2024 VisualDx®. All rights reserved.
Cyclic neutropenia
A medical illustration showing key findings of Cyclic neutropenia : Oral ulcers, Malaise, Recurring fever episodes, WBC decreased
Copyright © 2024 VisualDx®. All rights reserved.