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Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor
Ahmed Almesfer1, Sami Alradhi2, Fahad Alamr3
1Pediatric Allergy and Immunology Unit, Maternity and Children Hospital, Dammam, SAU.
Insights
Chediak-Higashi syndrome (CHS) is a rare immunodeficiency. Granulocyte-colony stimulating factor (G-CSF) effectively and safely managed severe neutropenia in a pediatric CHS patient.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder.
- Key features include immunodeficiency, oculocutaneous albinism, and recurrent infections.
- Neutropenia is a significant immunological complication of CHS.
Observation:
- A case of an 8-year-old girl with CHS and severe neutropenia is presented.
- The patient experienced recurrent infections and persistent neutropenia despite initial antibiotic treatment.
- Granulocyte-colony stimulating factor (G-CSF) was administered to address the neutropenia.
Findings:
- G-CSF therapy led to a significant increase in absolute neutrophil count (ANC).
- The patient demonstrated stability and tolerated G-CSF treatment without adverse effects.
- This suggests G-CSF is a potential therapeutic option for CHS-associated neutropenia.
Implications:
- G-CSF may offer a safe and effective management strategy for neutropenia in CHS patients.
- This approach could improve outcomes for individuals with this rare genetic disorder.
- Further research into G-CSF's role in CHS management is warranted.
Abstract:
Chediak-Higashi syndrome (CHS) is a congenital immunodeficiency disorder characterized by recurrent bacterial infections, oculocutaneous albinism, and abnormal intracellular protein transport. The incidence of CHS is rare, with approximately 500 cases reported so far. One of the key immunological features of CHS is neutropenia. The management of CHS includes supportive treatment, chemotherapy, methylprednisolone, IL-2 administration, and hematopoietic stem cell transplantation (HSCT). However, neutropenia can persist even after these treatments. This case report presents the successful management of severe neutropenia in an 8-year-old girl diagnosed with CHS. The patient exhibited classic CHS features, including hypopigmentation and recurrent infections. Initial treatment with antibiotics led to the resolution of the fever, but severe neutropenia persisted. Granulocyte-colony stimulating factor (G-CSF) therapy was initiated, which resulted in a substantial increase in the absolute neutrophil count (ANC) with no adverse effects. Throughout treatment with G-CSF, the patient remained stable. The patient was finally referred to the tertiary care center for consideration of bone marrow transplantation. This case highlights the potential safety and efficacy of G-CSF in managing CHS-associated neutropenia.
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