{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T22:29:33Z","timestamp":1791412173984,"version":"4.3.3"},"reference-count":57,"publisher":"American Society of Hematology","issue":"7","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2004,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Immunodeficiency, centromeric region instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disease. Mutations in the DNA methyltransferase 3B (DNMT3B) gene are responsible for most ICF cases reported. We investigated the B-cell defects associated with agammaglobulinemia in this syndrome by analyzing primary B cells from 4 ICF patients. ICF peripheral blood (PB) contains only naive B cells; memory and gut plasma cells are absent. Naive ICF B cells bear potentially autoreactive long heavy chain variable regions complementarity determining region 3's (VHCDR3's) enriched with positively charged residues, in contrast to normal PB transitional and mature B cells, indicating that negative selection is impaired in patients. Like anergic B cells in transgenic models, newly generated and immature B cells accumulate in PB. Moreover, these cells secrete immunoglobulins and exhibit increased apoptosis following in vitro activation. However, they are able to up-regulate CD86, indicating that mechanisms other than anergy participate in silencing of ICF B cells. One patient without DNMT3B mutations shows differences in immunoglobulin E (IgE) switch induction, suggesting that immunodeficiency could vary with the genetic origin of the syndrome. In this study, we determined that negative selection breakdown and peripheral B-cell maturation blockage contribute to agammaglobulinemia in the ICF syndrome. (Blood. 2004;103:2683-2690)<\/jats:p>","DOI":"10.1182\/blood-2003-08-2632","type":"journal-article","created":{"date-parts":[[2003,12,2]],"date-time":"2003-12-02T01:14:00Z","timestamp":1070327640000},"page":"2683-2690","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":85,"title":["Defective B-cell-negative selection and terminal differentiation in the ICF syndrome"],"prefix":"10.1182","volume":"103","author":[{"given":"Carla E.","family":"Blanco-Betancourt","sequence":"first","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Moncla","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miche\u0300le","family":"Milili","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Liang","family":"Jiang","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evani M.","family":"Viegas-Pe\u0301quignot","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Roquelaure","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Thuret","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Schiff","sequence":"additional","affiliation":[{"name":"From the Centre d'Immunologie de Marseilles-Luminy; the Centre National de la Recherche Scientifique (CNRS)-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale (INSERM); the Universite\u0301 delaMe\u0301diterrane\u0301e, Campus de Luminy, Marseilles, France; the Ho\u0302pital d'enfants de la Timone, De\u0301partement de Ge\u0301ne\u0301tique, Service de Gastroente\u0301rologie, and Service d'He\u0301matologie Pe\u0301diatrique, Marseilles, France; and the Institut Jacques Monod, E367 INSERM, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021217315136000_REF1","doi-asserted-by":"crossref","unstructured":"Meffre E, Casellas R, Nussenzweig MC. 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Intrinsic B-cell hyporesponsiveness accounts for self-tolerance in lysozyme\/anti-lysozyme double-transgenic mice. Proc Natl Acad Sci U S A. 1990;87: 5687-5691.","DOI":"10.1073\/pnas.87.15.5687"},{"key":"2020021217315136000_REF6","doi-asserted-by":"crossref","unstructured":"Forster I, Rajewsky K. The bulk of the peripheral B-cell pool in mice is stable and not rapidly renewed from the bone marrow. Proc Natl Acad Sci U S A. 1990;87: 4781-4784.","DOI":"10.1073\/pnas.87.12.4781"},{"key":"2020021217315136000_REF7","doi-asserted-by":"crossref","unstructured":"Carsetti R, Kohler G, Lamers MC. Transitional B cells are the target of negative selection in the B cell compartment. J Exp Med. 1995;181: 2129-2140.","DOI":"10.1084\/jem.181.6.2129"},{"key":"2020021217315136000_REF8","doi-asserted-by":"crossref","unstructured":"Loder F, Mutschler B, Ray RJ, et al. B cell development in the spleen takes place in discrete steps and is determined by the quality of B cell receptor-derived signals. J Exp Med. 1999;190: 75-89.","DOI":"10.1084\/jem.190.1.75"},{"key":"2020021217315136000_REF9","doi-asserted-by":"crossref","unstructured":"Allman D, Lindsley RC, DeMuth W, et al. Resolution of three nonproliferative immature splenic B cell subsets reveals multiple selection points during peripheral B cell maturation. J Immunol. 2001;167: 6834-6840.","DOI":"10.4049\/jimmunol.167.12.6834"},{"key":"2020021217315136000_REF10","doi-asserted-by":"crossref","unstructured":"Su TT, Rawlings DJ. Transitional B lymphocyte subsets operate as distinct checkpoints in murine splenic B cell development. J Immunol. 2002;168: 2101-2110.","DOI":"10.4049\/jimmunol.168.5.2101"},{"key":"2020021217315136000_REF11","doi-asserted-by":"crossref","unstructured":"Gu H, Tarlinton D, Muller W, Rajewsky K, Forster I. Most peripheral B cells in mice are ligand selected. 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The human (PsiL+mu-) proB complex: cell surface expression and biochemical structure of a putative transducing receptor. Blood. 1999;93: 4336-4346.","DOI":"10.1182\/blood.V93.12.4336"},{"key":"2020021217315136000_REF28","doi-asserted-by":"crossref","unstructured":"Revy P, Muto T, Levy Y, et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell. 2000;102: 565-575.","DOI":"10.1016\/S0092-8674(00)00079-9"},{"key":"2020021217315136000_REF29","doi-asserted-by":"crossref","unstructured":"Meffre E, Papavasiliou F, Cohen P, et al. Antigen receptor engagement turns off the V(D)J recombination machinery in human tonsil B cells. J Exp Med. 1998;188: 765-772.","DOI":"10.1084\/jem.188.4.765"},{"key":"2020021217315136000_REF30","doi-asserted-by":"crossref","unstructured":"Stiehm ER, Fudenberg HH. Serum levels of immune globulins in health and disease: a survey. Pediatrics. 1966;37: 715-727.","DOI":"10.1542\/peds.37.5.715"},{"key":"2020021217315136000_REF31","doi-asserted-by":"crossref","unstructured":"Comans-Bitter WM, de Groot R, van den Beemd R, et al. Immunophenotyping of blood lymphocytes in childhood: reference values for lymphocyte subpopulations. J Pediatr. 1997;130: 388-393.","DOI":"10.1016\/S0022-3476(97)70200-2"},{"key":"2020021217315136000_REF32","unstructured":"Pezzolo A, Prigione I, Chiesa S, et al. A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies. Haematologica. 2002;87: 329-331."},{"key":"2020021217315136000_REF33","doi-asserted-by":"crossref","unstructured":"Meffre E, Davis E, Schiff C, et al. Circulating human B cells that express surrogate light chains and edited receptors. Nat Immunol. 2000;1: 207-213.","DOI":"10.1038\/79739"},{"key":"2020021217315136000_REF34","doi-asserted-by":"crossref","unstructured":"Paramithiotis E, Cooper MD. 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Heavy chain variable region, light chain variable region, and heavy chain CDR3 influences on the mono- and polyreactivity and on the affinity of human monoclonal rheumatoid factors. J Immunol. 1995;154: 4526-4535.","DOI":"10.4049\/jimmunol.154.9.4526"},{"key":"2020021217315136000_REF43","doi-asserted-by":"crossref","unstructured":"Aguilera I, Melero J, Nunez-Roldan A, Sanchez B. Molecular structure of eight human autoreactive monoclonal antibodies. Immunology. 2001;102: 273-280.","DOI":"10.1046\/j.1365-2567.2001.01159.x"},{"key":"2020021217315136000_REF44","doi-asserted-by":"crossref","unstructured":"Yamada M, Wasserman R, Reichard BA, et al. Preferential utilization of specific immunoglobulin heavy chain diversity and joining segments in adult human peripheral blood B lymphocytes. J Exp Med. 1991;173: 395-407.","DOI":"10.1084\/jem.173.2.395"},{"key":"2020021217315136000_REF45","doi-asserted-by":"crossref","unstructured":"Norvell A, Mandik L, Monroe JG. Engagement of the antigen-receptor on immature murine B lymphocytes results in death by apoptosis. J Immunol. 1995;154: 4404-4413.","DOI":"10.4049\/jimmunol.154.9.4404"},{"key":"2020021217315136000_REF46","doi-asserted-by":"crossref","unstructured":"Sandel PC, Monroe JG. Negative selection of immature B cells by receptor editing or deletion is determined by site of antigen encounter. Immunity. 1999;10: 289-299.","DOI":"10.1016\/S1074-7613(00)80029-1"},{"key":"2020021217315136000_REF47","doi-asserted-by":"crossref","unstructured":"Mandik-Nayak L, Bui A, Noorchashm H, Eaton A, Erikson J. Regulation of anti-double-stranded DNA B cells in nonautoimmune mice: localization to the T-B interface of the splenic follicle. J Exp Med. 1997;186: 1257-1267.","DOI":"10.1084\/jem.186.8.1257"},{"key":"2020021217315136000_REF48","doi-asserted-by":"crossref","unstructured":"Santulli-Marotto S, Retter MW, Gee R, Mamula MJ, Clarke SH. 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