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Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family.Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in ArtemisThe metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombinationCoronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signalingPhosphorylation of Artemis following irradiation-induced DNA damage.Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.Thymus transplantation for complete DiGeorge syndrome: European experience.Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans.A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system.Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic reviewThe syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.Artemis sheds new light on V(D)J recombination.RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutationsX-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency.Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.Temporal and spatial compartmentalization of drug-resistant cytomegalovirus (CMV) in a child with CMV meningoencephalitis: implications for sampling in molecular diagnosisEvidence of innate lymphoid cell redundancy in humans.Resilience and Life Expectations of Perinatally HIV-1 Infected Adolescents in FranceInherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection.Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort studySCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy.Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.The expanding spectrum of human coronin 1A deficiency.Stem cell transplantation for primary immunodeficiencies: the European experience.An update on pediatric invasive aspergillosis.Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.CCR5 antagonists: a therapeutic option in HIV-1 perinatally infected children experiencing virologic failure?Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease.Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study.A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
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