title: Immunological profile of Fanconi anemia: a multicentric retrospective analysis of 61 patients.
abstract: 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.
authors.affiliation: Department of Pediatrics/Willem-Alexander Children's Hospital, Division of Immunology, Haematology and Stem Cell Transplantation, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Elisabeth T
authors.initials: ET
authors.lastname: Korthof
authors.forename: Johanna
authors.initials: J
authors.lastname: Svahn
authors.forename: Regis
authors.initials: R
authors.lastname: Peffault de Latour
authors.forename: Paola
authors.initials: P
authors.lastname: Terranova
authors.forename: Helene
authors.initials: H
authors.lastname: Moins-Teisserenc
authors.forename: Gérard
authors.initials: G
authors.lastname: Socié
authors.forename: Jean
authors.initials: J
authors.lastname: Soulier
authors.forename: Marleen
authors.initials: M
authors.lastname: Kok
authors.forename: Robbert G M
authors.initials: RG
authors.lastname: Bredius
authors.forename: Maarten
authors.initials: M
authors.lastname: van Tol
authors.forename: Els C M
authors.initials: EC
authors.lastname: Jol-van der Zijde
authors.forename: Angela
authors.initials: A
authors.lastname: Pistorio
authors.forename: Fabio
authors.initials: F
authors.lastname: Corsolini
authors.forename: Alessia
authors.initials: A
authors.lastname: Parodi
authors.forename: Florinda
authors.initials: F
authors.lastname: Battaglia
authors.forename: Vito
authors.initials: V
authors.lastname: Pistoia
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
authors.forename: Enrico
authors.initials: E
authors.lastname: Cappelli
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000097:blood / Q000276:immunology; D005199:Fanconi Anemia / Q000097:blood / Q000276:immunology*; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000097:blood / Q000276:immunology; D016130:Immunophenotyping; D016131:Lymphocyte Subsets / Q000276:immunology; D008297:Male; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D016207:Cytokines; D007136:Immunoglobulins