Case Report: Novel CXCR2 compound heterozygous variants in an infant with neutropenia - Takeaways - MDSpire

Case Report: Novel CXCR2 compound heterozygous variants in an infant with neutropenia

  • By

  • Hua Liu

  • Yinzhu Zhang

  • Xiao Liu

  • Jiayue Qin

  • Chunyi Zhang

  • Junjin Huang

  • Danyang Zhang

  • Hebing Zhou

  • Ming Yang

  • Yan Yue

  • May 29, 2026

  • 0 min

Share

  • 1

    Congenital neutropenia is a rare inherited disorder characterized by disrupted neutrophil development, leading to increased infection risk.

  • 2

    The case study reports a 12-month-old boy with recurrent respiratory infections and intermittent neutropenia due to novel CXCR2 variants.

  • 3

    Whole-exome sequencing identified two heterozygous CXCR2 variants: a frameshift mutation from the mother and a missense mutation from the father.

  • 4

    The patient required granulocyte colony-stimulating factor and antibiotics during episodes of febrile neutropenia.

  • 5

    This case expands the known mutational spectrum of CXCR2-related congenital neutropenia and emphasizes the importance of genetic testing.

Original Source(s)

Case Report: Novel CXCR2 compound heterozygous variants in an infant with neutropenia

  • by Hua Liu, Yinzhu Zhang, Xiao Liu, Jiayue Qin, Chunyi Zhang, Junjin Huang, Danyang Zhang, Hebing Zhou, Ming Yang, Yan Yue

  • May 29, 2026

Related Content

Prognostic significance of coagulation factor activity in acute stroke: a retrospective cohort study

Acute liver failure and secondary TMA-like phenomenon following SARS-CoV-2 and Mycoplasma pneumoniae co-detection in a child: a case report

Evolution of therapeutic paradigms in Hodgkin lymphoma: from “cure-oriented” to “functional cure”