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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses. Expand
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
By identifying an XLP immunodeficiency that is caused by mutations in XIAP, it is shown that XIAP is a potent regulator of lymphocyte homeostasis in vivo. Expand
Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly
Five patients with growth retardation, microcephaly, and immunodeficiency characterized by a profound T+B lymphocytopenia are described and Cernunnos/XLF represents a novel DNA repair factor essential for the NHEJ pathway. Expand
Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
It is shown that recessive mutations of the gene encoding uracil–DNA glycosylase (UNG) are associated with profound impairment in CSR at a DNA precleavage step and with a partial disturbance of the SHM pattern in three patients with hyper-IgM syndrome. Expand
TGF-beta 1 prevents the noncognate maturation of human dendritic Langerhans cells.
It is concluded that TGF-beta 1 appears to be responsible for both the acquisition of LC phenotype, cytokine production pattern, and prevention of noncognate maturation. Expand
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
The discovery of the first discovered human disease resulting from a cytokine gene defect suggests that IL-12 is essential to and appears specific for protective immunity to intracellular bacteria such as mycobacteria and salmonella. Expand
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
The attenuated strain of Mycobacterium bovis bacille Calmette–Guerin (BCG) is the most widely used vaccine in the world. In most children, inoculation of live BCG vaccine is harmless although it oc...
Functional antigen-independent synapses formed between T cells and dendritic cells
It is shown that in the absence of antigen, and even of major histocompatibility complex molecules, T cell–DC synapses are formed and lead to several T cell responses: a local increase in tyrosine phosphorylation, small Ca2+ responses, weak proliferation and long-term survival. Expand
Cernunnos Interacts with the XRCC4·DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1*
It is shown here that Cernunnos physically interacts with the XRCC4·DNA-ligase IV complex and that it corresponds to the genuine homolog of the yeast Nej1 protein, shed new lights on the last step, the DNA religation, of the NHEJ pathway. Expand
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair
An unanticipated functional interplay between the RAG complex and XLF in repairing RAG-induced DSBs and maintaining genome integrity during antigen receptor gene assembly is revealed. Expand