Lista de obras -

A liquid hexavalent combined vaccine against diphtheria, tetanus, pertussis, poliomyelitis, Haemophilus influenzae type B and hepatitis B: review of immunogenicity and safety

artículo científico publicado en 2004

A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy

artículo científico publicado en 2004

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

artículo científico publicado en 2013

AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome?

artículo científico publicado en 2009

Acellular Pertussis Booster in Adolescents Induces Th1 and Memory CD8+ T Cell Immune Response ⬇️

artículo científico publicado el 8 de marzo de 2011

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

artículo científico publicado en 2004

CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation.

artículo científico publicado en 2010

Chronic granulomatous disease: the European experience

artículo científico publicado en 2009

Clinical and molecular analysis of patients with defects in micro heavy chain gene.

artículo científico publicado en 2002

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

artículo científico publicado en 2014

Clinical score for nonbacterial osteitis in children and adults

artículo científico publicado en 2009

Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation

scientific article published on 23 February 2009

Comèl-Netherton syndrome defined as primary immunodeficiency

artículo científico publicado en 2009

Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response.

artículo científico publicado en 2006

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

artículo científico publicado en 2015

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

artículo científico publicado en 2013

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

artículo científico publicado en 2002

Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation

artículo científico publicado en 2015

Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease.

artículo científico publicado en 2007

Efficacy of gene therapy for X-linked severe combined immunodeficiency

artículo científico publicado en 2010

Hematologically important mutations: leukocyte adhesion deficiency (first update).

artículo científico publicado en 2011

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

artículo científico publicado en 2011

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

artículo científico publicado en 2006

ICOS deficiency in patients with common variable immunodeficiency.

artículo científico publicado en 2004

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

artículo científico publicado en 2005

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

artículo científico publicado en 2008

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.

artículo científico publicado en 2015

Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome ⬇️

artículo científico publicado el 13 de abril de 2013

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease

artículo científico publicado en 2017

Neurologic varicella complications before routine immunization in Germany.

artículo científico publicado en 2010

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

artículo científico publicado en 2015

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

artículo científico publicado en 2008

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

artículo científico publicado en 2009

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

artículo científico publicado en 2017

Rates of postoperative complications among human immunodeficiency virus-infected women who have undergone obstetric and gynecologic surgical procedures

artículo científico publicado en 2002

Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

artículo científico publicado en 2013

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

artículo científico publicado en 2008

Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis

artículo científico publicado en 2016

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis

artículo científico publicado en 2017

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

artículo científico publicado en 2016

The genotype of the original Wiskott phenotype

artículo científico publicado en 2006

Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease

artículo científico publicado en 2010

Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000.

artículo científico publicado en 2002

Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

artículo científico publicado en 2014

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

artículo científico publicado en 2010

Lista de obras de

A liquid hexavalent combined vaccine against diphtheria, tetanus, pertussis, poliomyelitis, Haemophilus influenzae type B and hepatitis B: review of immunogenicity and safety

A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome?

Acellular Pertussis Booster in Adolescents Induces Th1 and Memory CD8+ T Cell Immune Response ⬇️

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation.

Chronic granulomatous disease: the European experience

Clinical and molecular analysis of patients with defects in micro heavy chain gene.

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Clinical score for nonbacterial osteitis in children and adults

Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation

Comèl-Netherton syndrome defined as primary immunodeficiency

Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response.

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation

Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease.

Efficacy of gene therapy for X-linked severe combined immunodeficiency

Hematologically important mutations: leukocyte adhesion deficiency (first update).

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

ICOS deficiency in patients with common variable immunodeficiency.

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.

Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome ⬇️

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease

Neurologic varicella complications before routine immunization in Germany.

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Rates of postoperative complications among human immunodeficiency virus-infected women who have undergone obstetric and gynecologic surgical procedures

Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

The genotype of the original Wiskott phenotype

Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease

Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000.

Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options