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Severe neutropenia in Japanese patients with x-linked agammaglobulinemia
Hirokazu Kanegane1, Hiromichi Taneichi, Keiko Nomura
1Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan. kanegane@ms.toyama-mpu.ac.jp
Abstract:
X-linked agammaglobulinemia (XLA) is clinically characterized by recurrent bacterial infections during early infancy. Although it is not a phagocytic disorder, XLA is sometimes associated with neutropenia. We conducted a nation-wide survey to determine the frequency of neutropenia among Japanese XLA patients. Responses were received from 87 (86%) of 101 patients in which BTK mutations were previously identified, and of these, 16 (18%) had neutropenia. All episodes of neutropenia occurred before initiation of intravenous immunoglobulin (IVIG) replacement therapy. Two XLA patients died of multiple organ failure caused by severe neutropenia and Pseudomonas sepsis before initiation of IVIG replacement therapy. These results suggest that, in some cases, severe bacterial infections in XLA patients might be caused not only by antibody deficiencies but also by neutropenia.
Insights
Neutropenia occurs in 18% of Japanese XLA patients before treatment. This, alongside antibody deficiency, may contribute to severe bacterial infections and fatalities in XLA.
Area of Science:
- Immunology
- Hematology
Background:
- X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by recurrent bacterial infections.
- While not a phagocytic disorder, XLA can present with neutropenia.
Purpose of the Study:
- To determine the frequency of neutropenia in Japanese patients with X-linked agammaglobulinemia.
- To investigate the potential role of neutropenia in severe infections in XLA.
Main Methods:
- A nationwide survey was conducted among 101 Japanese XLA patients with identified BTK mutations.
- Neutropenia was assessed in 87 responding patients.
Main Results:
- Neutropenia was identified in 16 (18%) of the surveyed XLA patients.
- All neutropenia episodes occurred prior to intravenous immunoglobulin (IVIG) replacement therapy.
- Two patients died from severe neutropenia and Pseudomonas sepsis before IVIG initiation.
Conclusions:
- Neutropenia is a significant comorbidity in a subset of XLA patients.
- Neutropenia, in addition to antibody deficiency, may contribute to severe bacterial infections and mortality in XLA.
- Early detection and management of neutropenia in XLA patients are crucial.
