List of works - Bernd H Belohradsky

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

scientific article published on March 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

scientific article

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

scientific article published on 25 May 2013

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

scientific article published on 24 November 2009

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

scientific article (publication date: 8 March 2011)

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

scientific article

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

scientific article published on 5 September 2010

Chronic granulomatous disease: the European experience

scientific article

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

scientific article

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

scientific article published on 28 February 2014

Clinical score for nonbacterial osteitis in children and adults

scientific article published on April 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 4 February 2013

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

scientific article

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

scientific article published on 13 October 2015

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

scientific article

Efficacy of gene therapy for X-linked severe combined immunodeficiency

scientific article

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

scientific article

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

scientific article

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

scientific article

ICOS deficiency in patients with common variable immunodeficiency.

scientific article published in December 2004

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

scientific article published on April 2005

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

scientific article

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

scientific article

Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome ⬇️

scientific article published on April 13, 2013

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease

scientific article published on 18 August 2017

Neurologic varicella complications before routine immunization in Germany.

scientific article published in January 2010

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 6 April 2017

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

scientific article published on 11 February 2002

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

scientific article published on 23 October 2013

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

scientific article

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

scientific article published on 22 July 2016

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis

scientific article published on September 2017

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

scientific article

The genotype of the original Wiskott phenotype

scientific article

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

scientific article published in April 2010

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

scientific article

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

scientific article published on 12 February 2014

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

scientific article

List of works by Bernd H Belohradsky

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