Common Variable Immunodeficiency Caused by FANC Mutations

Interplay between Fanconi anemia and homologous recombination pathways in genome integrity

(2016) Johanna Michl et al.   EMBO JOURNAL

Loss ofFanccImpairs Antibody-Secreting Cell Differentiation in Mice through Deregulating the Wnt Signaling Pathway

(2016) Mathieu Sertorio et al.   JOURNAL OF IMMUNOLOGY

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

(2016) Hye Sun Kuehn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

(2016) Patrick Maffucci et al.   Frontiers in Immunology

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

(2015) Manfred Fliegauf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

What is the DNA repair defect underlying Fanconi anemia?

(2015) Julien P Duxin et al.   CURRENT OPINION IN CELL BIOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

(2014) Rohan Ameratunga et al.   Frontiers in Immunology

Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients

(2013) Elisabeth T. Korthof et al.   AMERICAN JOURNAL OF HEMATOLOGY

Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients

(2013) A. Hira et al.   BLOOD

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita

(2013) Eric J. Allenspach et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiencies: A rapidly evolving story

(2013) Nima Parvaneh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair

(2013) J. Tomida et al.   NUCLEIC ACIDS RESEARCH

Immune defects in a mouse model of Fanconi anaemia

(2012) Sigrid C. Holmgren et al.   BRITISH JOURNAL OF HAEMATOLOGY

Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated p53/p21 DNA Damage Response that Impairs Hematopoietic Stem and Progenitor Cells

(2012) Raphael Ceccaldi et al.   Cell Stem Cell

Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles

(2012) Chikako Kamae et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Common variable immunodeficiency - an update

(2012) Ulrich Salzer et al.   ARTHRITIS RESEARCH & THERAPY

Impaired immune function in children with Fanconi anaemia

(2011) Kasiani C. Myers et al.   BRITISH JOURNAL OF HAEMATOLOGY

Clinical features of adult-onset chronic active Epstein–Barr virus infection: a retrospective analysis

(2011) Ayako Arai et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects

(2011) Noriko Nakagawa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Excellent outcome of allogeneic hematopoietic SCT with reduced-intensity conditioning for the treatment of chronic active EBV infection

(2010) K Kawa et al.   BONE MARROW TRANSPLANTATION

Diagnosis of Fanconi anemia in patients with bone marrow failure

(2009) F. O. Pinto et al.   HAEMATOLOGICA

Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards

(2009) Yoichi Morinishi et al.   JOURNAL OF PEDIATRICS