Common Variable Immunodeficiency Caused by FANC Mutations
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O. Ohara | S. Miyano | Y. Shiraishi | K. Chiba | S. Ogawa | T. Morio | M. Takagi | Y. Okuno | Kenichi Yoshida | K. Honma | Kanako Mitsui-Sekinaka | K. Imai | S. Kojima | S. Nonoyama | M. Takata | H. Muramatsu | N. Mitsuiki | A. Arai | H. Yabe | M. Yabe | Hiroko Tanaka | Asuka Hira | Yujin Sekinaka | S. Kojima
[1] N. Rider,et al. Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia , 2019, Front. Pediatr..
[2] H. Kimura,et al. Overview of EBV-Associated T/NK-Cell Lymphoproliferative Diseases , 2019, Front. Pediatr..
[3] M. Gershwin,et al. Common Variable Immunodeficiency and Liver Involvement , 2018, Clinical Reviews in Allergy & Immunology.
[4] J. Casanova,et al. Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency , 2016, Front. Immunol..
[5] Madalena Tarsounas,et al. Interplay between Fanconi anemia and homologous recombination pathways in genome integrity , 2016, The EMBO journal.
[6] S. South,et al. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. , 2016, The New England journal of medicine.
[7] M. Sertorio,et al. Loss of Fancc Impairs Antibody-Secreting Cell Differentiation in Mice through Deregulating the Wnt Signaling Pathway , 2016, The Journal of Immunology.
[8] J. Walter,et al. What is the DNA repair defect underlying Fanconi anemia? , 2015, Current opinion in cell biology.
[9] E. Bruford,et al. Update of the human and mouse Fanconi anemia genes , 2015, Human Genomics.
[10] A. Schäffer,et al. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. , 2015, American journal of human genetics.
[11] D. Gillis,et al. Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder , 2014, Front. Immunol..
[12] S. Miyano,et al. Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. , 2013, Blood.
[13] H. Ochs,et al. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. , 2013, The Journal of allergy and clinical immunology.
[14] A. Fischer,et al. Primary antibody deficiencies , 2013, Nature Reviews Immunology.
[15] J. Soulier,et al. Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients , 2013, American journal of hematology.
[16] Tomonari Matsuda,et al. A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair , 2013, Nucleic acids research.
[17] O. Ohara,et al. Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. , 2013, The Journal of allergy and clinical immunology.
[18] J. Casanova,et al. Primary immunodeficiencies: a rapidly evolving story. , 2013, The Journal of allergy and clinical immunology.
[19] B. Wood,et al. Immune defects in a mouse model of Fanconi anaemia , 2012, British journal of haematology.
[20] K. Warnatz,et al. Common variable immunodeficiency - an update , 2012, Arthritis Research & Therapy.
[21] J. Soulier,et al. Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. , 2012, Cell stem cell.
[22] A. Fischer,et al. Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency , 2011, Front. Immun..
[23] O. Ohara,et al. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. , 2011, The Journal of allergy and clinical immunology.
[24] K. Myers,et al. Impaired immune function in children with Fanconi anaemia , 2011, British journal of haematology.
[25] C. Nakaseko,et al. Clinical features of adult-onset chronic active Epstein–Barr virus infection: a retrospective analysis , 2011, International journal of hematology.
[26] Steven M. Holland,et al. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 , 2009, Front. Immun..
[27] T. Okamura,et al. Excellent outcome of allogeneic hematopoietic SCT with reduced-intensity conditioning for the treatment of chronic active EBV infection , 2011, Bone Marrow Transplantation.
[28] H. Kanegane,et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. , 2009, The Journal of pediatrics.
[29] J. Soulier,et al. Diagnosis of Fanconi anemia in patients with bone marrow failure , 2009, Haematologica.
[30] Eren,et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. , 2008, Blood.
[31] S. Kato,et al. In Vitro Effect of Fludarabine, Cyclophosphamide, and Cytosine Arabinoside on Chromosome Breakage in Fanconi Anemia Patients: Relevance to Stem Cell Transplantation , 2007, International journal of hematology.
[32] A. D’Andrea,et al. Molecular pathogenesis of Fanconi anemia: recent progress. , 2006, Blood.
[33] A. Gennery,et al. Primary immunodeficiency syndromes associated with defective DNA double-strand break repair. , 2006, British medical bulletin.
[34] S. Fagerlie,et al. Immune defects in Fanconi anemia. , 2006, Critical reviews in immunology.
[35] S. Asano,et al. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population , 2004, Human mutation.
[36] C. N. Coleman,et al. CTCAE v3.0: development of a comprehensive grading system for the adverse effects of cancer treatment. , 2003, Seminars in radiation oncology.
[37] M. Frikha,et al. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations , 2003, Journal of Human Genetics.
[38] C. Cunningham-Rundles,et al. Common variable immunodeficiency: clinical and immunological features of 248 patients. , 1999, Clinical immunology.
[39] D. Papadopoulo,et al. Abnormal rearrangements associated with V(D)J recombination in Fanconi anemia. , 1998, Journal of molecular biology.
[40] R de Groot,et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. , 1997, The Journal of pediatrics.
[41] R. Gale,et al. Hematologic Abnormalities in Fanconi Anemia: An International Fanconi Anemia Registry Study , 1994 .
[42] S. Latt,et al. Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia. , 1975, Proceedings of the National Academy of Sciences of the United States of America.