Premium
Impaired immune function in children with Fanconi anaemia
Author(s) -
Myers Kasiani C.,
Bleesing Jack J.,
Davies Stella M.,
Zhang Xue,
Martin Lisa J.,
Mueller Robin,
Harris Richard E.,
Filipovich Alexandra H.,
Kovacic Melinda B.,
Wells Susanne I.,
Mehta Parinda A.
Publication year - 2011
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2011.08721.x
Subject(s) - cytotoxic t cell , immune system , immunology , granzyme b , population , phytohaemagglutinin , fanconi anemia , biology , granzyme , perforin , t cell , cd8 , medicine , genetics , dna repair , environmental health , gene , in vitro
Summary 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.