Premium
Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients
Author(s) -
Korthof Elisabeth T.,
Svahn Johanna,
Latour Regis Peffault,
Terranova Paola,
MoinsTeisserenc Helene,
Socié Gérard,
Soulier Jean,
Kok Marleen,
Bredius Robbert G.M.,
Tol Maarten,
Jolvan der Zijde Els C.M.,
Pistorio Angela,
Corsolini Fabio,
Parodi Alessia,
Battaglia Florinda,
Pistoia Vito,
Dufour Carlo,
Cappelli Enrico
Publication year - 2013
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.23435
Subject(s) - fanconi anemia , immunology , medicine , immune system , anemia , bone marrow failure , proinflammatory cytokine , antibody , haematopoiesis , bone marrow , lymphocyte , cytotoxic t cell , stem cell , biology , inflammation , biochemistry , genetics , gene , dna repair , in vitro
In this study, the immunological status of 61 patients with Fanconi anemia (FA) with advanced marrow failure before hematopoietic stem cell transplantation was analyzed by assessing the phenotype of peripheral blood lymphocytes, serum immunoglobulin (Ig) levels, and inflammatory cytokines. In patients with FA, total absolute lymphocytes ( P < 0.0001), B cells ( P < 0.0001), and NK cells ( P = 0.003) were reduced when compared with normal controls. T cells (CD3), that is, cytotoxic T cells, naïve T cells, and regulatory T cells, showed a relative increase when compared with controls. Serum levels of IgG ( P < 0.0001) and IgM ( P = 0.004) were significantly lower, whereas IgA level was higher ( P < 0.0001) than in normal controls. TGF‐β ( P = 0.007) and interleukin (IL)‐6 ( P = 0.0007) levels were increased in the serum of patients when compared with controls, whereas sCD40L level decreases ( P < 0.0001). No differences were noted in the serum levels of IL‐1β, IL‐2, IL‐4, IL‐10, IL‐13, IL‐17, and IL‐23 between FA subjects and controls. This comprehensive immunological study shows that patients with FA with advanced marrow failure have an altered immune status. This is in accordance with some characteristics of FA such as the proinflammatory and proapoptotic status. In addition, B lymphocyte failure may make tight and early immunological monitoring advisable. Am. J. Hematol. 88:472–476, 2013. © 2013 Wiley Periodicals, Inc.