Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 154, Issue 2, Pages 234-240Publisher
WILEY
DOI: 10.1111/j.1365-2141.2011.08721.x
Keywords
Fanconi anaemia; children; bone marrow failure; immunology
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Funding
- NHLBI NIH HHS [R01 HL108102] Funding Source: Medline
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Fanconi anaemia is an autosomal recessive or X-linked disease characterized by progressive bone marrow failure, variable congenital abnormalities and a predisposition to malignancy. Reports of immune function in this population are limited, and include only specific areas of immune performance, showing variable defects. We report a cross-sectional immunological assessment in 10 children with FA. Absolute numbers of B cells and natural killer (NK) cells were reduced compared to controls (P = 0 048 and P = 0 0002, respectively), while absolute number of T cells were within normal range. Perforin and granzyme content of NK cells was reduced (P < 0 00001 and P = 0 0057, respectively) along with the NK cell cytotoxicity (P < 0 001). Antigen proliferation in response to tetanus was decreased (P = 0 008) while responses to candida and phytohaemagglutinin were not. Cytotoxic T cell function was also reduced (P < 0 0001). Immunoglobulin G levels were normal in those evaluated. Our series represents the first attempt at a comprehensive quantitative and functional evaluation of immune function in this rare group of patients and demonstrates a significant deficit in the NK cell compartment, a novel quantitative B cell defect, along with abnormal cytotoxic function. These findings may be especially relevant in this patient population with known predisposition to DNA damage and malignancy.
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