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Chronic Neutropenia
Chronic neutropenia is typically defined as neutropenia that lasts for at least for 3 months and is not attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or a malignant cause
Prevalence
2/100,000
1,000–6,000
US Estimated
1,500–9,000
Europe Estimated
Age of Onset
All ages
ICD-10
D70.9
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
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Chronic Neutropenia is a condition characterized by persistently low levels of neutrophils, a type of white blood cell essential for fighting bacterial and fungal infections.
5 Facts you should know
FACT
Chronic neutropenia is defined by persistent neutrophil counts <1500/μL for over 3 months, often with intermittent infections or mucosal ulcers
FACT
Congenital neutropenia is frequently linked to ELANE or HAX1 mutations; patients may present in infancy with life-threatening infections
FACT
Cyclic neutropenia typically follows a 21-day pattern of neutrophil decline and spontaneous recovery; symptoms often coincide with nadir
FACT
Autoimmune neutropenia of childhood may resolve spontaneously; diagnosis is supported by anti-neutrophil antibodies
FACT
Hematology-guided G-CSF therapy remains the cornerstone for reducing infection frequency and maintaining neutrophil levels in high-risk patients
Interest over time
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Common signs and symptoms
Recurrent fevers
Mouth ulcers
Gingivitis and periodontitis
Skin abscesses
Proportionate short stature
Congenital cataracts and other eye anomalies
Airway malformations
Breathing difficulties
Current treatments
G-CSF (Granulocyte-Colony Stimulating Factor)
e.g., filgrastim to stimulate neutrophil production
Antibiotics
for active or prophylactic infection management
Routine blood monitoring
to track neutrophil levels
Bone marrow transplant
considered in severe or unresponsive cases (especially SCN)
Good oral and skin hygiene
critical for preventing infections
Current treatments
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections | The purpose of this study is to demonstrate the efficacy and evaluate the safety and tolerability of mavorixafor in participants with congenital or acquired primary autoimmune and idiopathic chronic neutropenic disorders who are experiencing recurrent and/or serious infections as assessed by demonstrating its clinical benefit and increasing levels of circulating neutrophils. | PHASE3 | RECRUITING | DRUG: Mavorixafor|DRUG: Placebo | More info |
| AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion | Children, adolescents, and young adults with malignant and non-malignant conditionsundergoing an allogeneic stem cell transplantation (AlloSCT) will have the stem cells selected utilizing α/β CD3+/CD19+ cell depletion. All other treatment is standard of care. | PHASE2 | RECRUITING | DRUG: alpha beta depletion | More info |