Lista de obras -

A phase I trial to evaluate the safety and pharmacokinetics of low-dose methotrexate as an anti-malarial drug in Kenyan adult healthy volunteers ⬇️

artículo científico publicado el 16 de marzo de 2011

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

artículo científico publicado en 2016

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

artículo científico publicado en 2016

Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence?

artículo científico publicado en 2002

Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID).

artículo científico publicado en 2010

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

artículo científico publicado en 2014

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

artículo científico publicado en 2016

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

artículo científico publicado en 2011

Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement

artículo científico publicado en 2007

Diastolic Heart Murmur, Nocturnal Back Pain, and Lumbar Rigidity in a 7-Year Girl: An Unusual Manifestation of Lyme Disease in Childhood ⬇️

artículo científico publicado el 29 de septiembre de 2012

Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report

artículo científico publicado en 2003

Evidence and consensus based GKJR guidelines for the treatment of juvenile idiopathic arthritis ⬇️

artículo científico publicado el 26 de octubre de 2011

Evidence-based use of methotrexate in children with rheumatic diseases: a consensus statement of the Working Groups Pediatric Rheumatology Germany (AGKJR) and Pediatric Rheumatology Austria

artículo científico publicado en 2005

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

artículo científico publicado en 2010

Experimental strategies for combined suicide and immune cancer gene therapy. An overview.

artículo científico publicado en 2003

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

artículo científico publicado en 2020

Familial Mediterranean fever in children and adolescents: factors for colchicine dosage and predicting parameters for dose increase

artículo científico

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

artículo científico publicado en 2017

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

artículo científico publicado en 2009

Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency

artículo científico publicado en 2016

Immunisation practices in centres caring for children with perinatally acquired HIV: A call for harmonisation

artículo científico publicado en 2016

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

artículo científico publicado en 2009

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

artículo científico publicado en 2010

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

artículo científico publicado en 2010

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome

artículo científico publicado en 2020

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

artículo científico publicado en 2011

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

artículo científico

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

artículo científico publicado en 2004

Optimizing treatment in paediatric rheumatology--lessons from oncology

artículo científico

Outcome and Trends in Treatment of Systemic Juvenile Idiopathic Arthritis in the German National Pediatric Rheumatologic Database, 2000-2013.

artículo científico publicado en 2016

PENTA 2009 guidelines for the use of antiretroviral therapy in paediatric HIV-1 infection

artículo científico publicado en 2009

Painful rash and swelling of the limbs after recurrent infections in a teenager: polyarteritis nodosa.

artículo científico publicado en 2006

Post-pandemic seroprevalence of pandemic influenza A (H1N1) 2009 infection (swine flu) among children <18 years in Germany

artículo científico publicado en 2011

Prevalence of hepatitis E virus antibodies in children in Germany

artículo científico publicado en 2014

Recommendations for the use of methotrexate in juvenile idiopathic arthritis

artículo científico publicado en 2006

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

artículo científico publicado en 2014

Risk adapted transmission prophylaxis to prevent vertical HIV–1 transmission: Effectiveness and safety of an abbreviated regimen of postnatal oral Zidovudine ⬇️

artículo científico publicado el 24 de enero de 2013

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

artículo científico publicado en 2015

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

artículo científico publicado en 2006

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

artículo científico publicado en 2015

The febrile child: diagnosis and treatment

artículo científico publicado en 2013

Topical tacrolimus is effective against eczema in Wiskott-Aldrich syndrome (WAS).

artículo científico publicado en 2007

Translational research network and patient registry for auto-inflammatory diseases ⬇️

artículo científico publicado el 1 de enero de 2011

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline

scientific article published on 26 August 2020

polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency

artículo científico publicado en 2005

Lista de obras de

A phase I trial to evaluate the safety and pharmacokinetics of low-dose methotrexate as an anti-malarial drug in Kenyan adult healthy volunteers ⬇️

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence?

Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID).

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement

Diastolic Heart Murmur, Nocturnal Back Pain, and Lumbar Rigidity in a 7-Year Girl: An Unusual Manifestation of Lyme Disease in Childhood ⬇️

Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report

Evidence and consensus based GKJR guidelines for the treatment of juvenile idiopathic arthritis ⬇️

Evidence-based use of methotrexate in children with rheumatic diseases: a consensus statement of the Working Groups Pediatric Rheumatology Germany (AGKJR) and Pediatric Rheumatology Austria

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

Experimental strategies for combined suicide and immune cancer gene therapy. An overview.

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Familial Mediterranean fever in children and adolescents: factors for colchicine dosage and predicting parameters for dose increase

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency

Immunisation practices in centres caring for children with perinatally acquired HIV: A call for harmonisation

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics

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

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Optimizing treatment in paediatric rheumatology--lessons from oncology

Outcome and Trends in Treatment of Systemic Juvenile Idiopathic Arthritis in the German National Pediatric Rheumatologic Database, 2000-2013.

PENTA 2009 guidelines for the use of antiretroviral therapy in paediatric HIV-1 infection

Painful rash and swelling of the limbs after recurrent infections in a teenager: polyarteritis nodosa.

Post-pandemic seroprevalence of pandemic influenza A (H1N1) 2009 infection (swine flu) among children <18 years in Germany

Prevalence of hepatitis E virus antibodies in children in Germany

Recommendations for the use of methotrexate in juvenile idiopathic arthritis

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

Risk adapted transmission prophylaxis to prevent vertical HIV–1 transmission: Effectiveness and safety of an abbreviated regimen of postnatal oral Zidovudine ⬇️

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

The febrile child: diagnosis and treatment

Topical tacrolimus is effective against eczema in Wiskott-Aldrich syndrome (WAS).

Translational research network and patient registry for auto-inflammatory diseases ⬇️

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline

polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency