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A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)JExpand
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Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.
Diamond-Blackfan anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g., RPS19) or large (e.g., RPL11) ribosomalExpand
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Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
BACKGROUND Ataxia telangiectasia (AT) is a multisystem DNA-repair disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. Patients with AT have reduced B- and T-cell numbers andExpand
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Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.
_To the Editor:_ Autosomal-dominant germline mutations in _PTEN_ are associated with phosphate and tensin homologue deleted on chromosome 10 (PTEN) hamartoma tumor syndromes (PHTS), including CowdenExpand
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XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.
Repair of DNA double-strand breaks (DSBs) by the nonhomologous end-joining pathway (NHEJ) is important not only for repair of spontaneous breaks but also for breaks induced in developing lymphocytesExpand
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Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.
A girl presented during childhood with a single course of extensive chickenpox and moderate albeit recurrent pneumonia in the presence of idiopathic CD4+ T lymphocytopenia (ICL). Her clinicalExpand
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Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities
DNA double‐strand break repair via non‐homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T‐cell receptor genes. Mutations in NHEJ components result in syndromes thatExpand
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Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults
Upon antigen recognition via their B cell receptor (BR), B cells migrate to the germinal center where they undergo somatic hypermutation (SHM) to increase their affinity for the antigen, and classExpand
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Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Background V(D)J recombination takes place during lymphocyte development to generate a large repertoire of T- and B-cell receptors. Mutations inExpand
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Adaptive antibody diversification through N-linked glycosylation of the immunoglobulin variable region
Significance Structural variation of antibodies is generally defined in terms of amino acid composition, neglecting posttranslational modifications such as N-linked glycosylation. Little is knownExpand
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