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Neutropenia and primary immunodeficiency diseases
Nima Rezaei1, Kasra Moazzami, Asghar Aghamohammadi
1Center of Excellence for Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran 14194, Iran. rezaei nima@hbi.ir
International Reviews of Immunology
|October 9, 2009
Summary
Primary immunodeficiency diseases (PIDs) can cause neutropenia. Recent genetic discoveries illuminate the causes of congenital neutropenia, improving understanding of these immune system disorders.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- Primary immunodeficiency diseases (PIDs) are congenital immune system disorders.
- Neutropenia, a common feature of PIDs, can occur independently or as part of complex immune disorders.
- Mechanisms linking PIDs and neutropenia are often unclear.
Purpose of the Study:
- To review inherited disorders associated with neutropenia.
- To summarize clinical, immunological, and genetic features of congenital neutropenia syndromes.
- To highlight recent advances in understanding the pathophysiology of congenital neutropenia.
Main Methods:
- Literature review of primary immunodeficiency diseases and neutropenia.
- Focus on inherited disorders with neutropenia.
- Synthesis of clinical, immunological, and genetic data.
Main Results:
- Several PIDs, including CD40L deficiency, WHIM syndrome, and Chédiak Higashi syndrome, are associated with neutropenia.
- Novel genetic defects (p14, HAX1, AK2 deficiencies) have been identified, clarifying congenital neutropenia pathophysiology.
- Neutropenia in PIDs can stem from chronic viral infections or autoimmunity.
Conclusions:
- Congenital neutropenia is a significant manifestation of primary immunodeficiency diseases.
- Recent genetic discoveries are crucial for understanding the pathophysiology of congenital neutropenia.
- Further research is needed to fully elucidate the mechanisms linking PIDs and neutropenia.
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