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Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

Bone marrow transplantation (Basingstoke), 2011-04, Vol.46 (4), p.552-556

2011

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Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation

Klinische Padiatrie, 2010-11, Vol.222 (6), p.351

2010

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Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later

Klinische Padiatrie, 2014-05, Vol.226 (3), p.149

2014

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Mechanism and regulation of human non-homologous DNA end-joining

Nature reviews. Molecular cell biology, 2003-09, Vol.4 (9), p.712-720

2003

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Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

The New England journal of medicine, 2013-12, Vol.369 (26), p.2504-2514

2013

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Hairpin Opening and Overhang Processing by an Artemis/DNA-Dependent Protein Kinase Complex in Nonhomologous End Joining and V(D)J Recombination

Cell, 2002-03, Vol.108 (6), p.781-794

2002

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DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Human molecular genetics, 2015-12, Vol.24 (25), p.7361-7372

2015

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The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination

DNA Repair, 2004-08, Vol.3 (8), p.817-826

2004

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Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Blood, 2015-10, Vol.126 (14), p.1658-1669

2015

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Omenn syndrome due to ARTEMIS mutations

Blood, 2005-06, Vol.105 (11), p.4179-4186

2005

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The DNA-dependent Protein Kinase Catalytic Subunit Phosphorylation Sites in Human Artemis

The Journal of biological chemistry, 2005-10, Vol.280 (40), p.33839-33846

2005

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A variant of SCID with specific immune responses and predominance of gamma delta T cells

The Journal of clinical investigation, 2005-11, Vol.115 (11), p.3140-3148

2005

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Functional and biochemical dissection of the structure-specific nuclease ARTEMIS

The EMBO journal, 2004-05, Vol.23 (9), p.1987-1997

2004

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Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor–associated kinase 4

The Journal of pediatrics, 2004-11, Vol.145 (5), p.698-700

2004

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RAG Mutations in Human B Cell-Negative SCID

Science (American Association for the Advancement of Science), 1996-10, Vol.274 (5284), p.97-99

1996

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The Polarization Defect of Wiskott-Aldrich Syndrome Macrophages Is Linked to Dislocalization of the Arp2/3 Complex

The Journal of immunology (1950), 2000-07, Vol.165 (1), p.221-225

2000

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Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

Human genetics, 1996-12, Vol.98 (6), p.706-709

1996

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PReS-FINAL-2346: Hypomorphic RAG deficiencies: phenotypic variability and usefulness of TREC/KREC as diagnostic biomarkers

Pediatric rheumatology online journal, 2013-12, Vol.11 (S2), p.P336-P336, Article P336

2013

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Regulated Expression of Nuclear Receptor ROR gamma t Confers Distinct Functional Fates to NK Cell Receptor-Expressing ROR gamma t super(+) Innate Lymphocytes

Immunity (Cambridge, Mass.), 2010-11, Vol.33 (5), p.736-751

2010

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Human severe combined immune deficiency and DNA repair

BioEssays, 2003-11, Vol.25 (11), p.1061-1070

2003

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Disulfide bridge disruption in the HLA class I alpha 2 domain leads to a low surface expression of the corresponding HLA molecule

Genes and immunity, 2005-04, Vol.6, p.S21-S21

2005

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Omenn Syndrome Associated with a Functional Reversion Due to a Somatic Second-Site Mutation in CARD11 Deficiency

JOURNAL OF CLINICAL IMMUNOLOGY, 2014, Vol.34, p.S474

2014

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Autosomal-Recessive Agammaglobulinemia Due to Homozygous Mutations in Artemis: Do We Need a Modifier?

JOURNAL OF CLINICAL IMMUNOLOGY, 2014, Vol.34, p.S146

2014

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Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype

Immunology and cell biology, 2003-04, Vol.81 (2), p.130-136

2003

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Severe combined deficiency of innate and acquired immunity caused by an IKBKB mutation

ONKOLOGIE, 2013, Vol.36, p.205

2013

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Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation

Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later

Mechanism and regulation of human non-homologous DNA end-joining

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

Hairpin Opening and Overhang Processing by an Artemis/DNA-Dependent Protein Kinase Complex in Nonhomologous End Joining and V(D)J Recombination

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Omenn syndrome due to ARTEMIS mutations

The DNA-dependent Protein Kinase Catalytic Subunit Phosphorylation Sites in Human Artemis

A variant of SCID with specific immune responses and predominance of gamma delta T cells

Functional and biochemical dissection of the structure-specific nuclease ARTEMIS

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor–associated kinase 4

RAG Mutations in Human B Cell-Negative SCID

The Polarization Defect of Wiskott-Aldrich Syndrome Macrophages Is Linked to Dislocalization of the Arp2/3 Complex

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

PReS-FINAL-2346: Hypomorphic RAG deficiencies: phenotypic variability and usefulness of TREC/KREC as diagnostic biomarkers

Regulated Expression of Nuclear Receptor ROR gamma t Confers Distinct Functional Fates to NK Cell Receptor-Expressing ROR gamma t super(+) Innate Lymphocytes

Human severe combined immune deficiency and DNA repair

Disulfide bridge disruption in the HLA class I alpha 2 domain leads to a low surface expression of the corresponding HLA molecule

Omenn Syndrome Associated with a Functional Reversion Due to a Somatic Second-Site Mutation in CARD11 Deficiency

Autosomal-Recessive Agammaglobulinemia Due to Homozygous Mutations in Artemis: Do We Need a Modifier?

Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype

Severe combined deficiency of innate and acquired immunity caused by an IKBKB mutation

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