PubRank

Bernd H Belohradsky

Author PubWeight™ 79.82‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 2008 9.42
2 Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006 4.75
3 Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2010 3.54
4 Chronic granulomatous disease: the European experience. PLoS One 2009 3.04
5 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. J Allergy Clin Immunol 2008 2.50
6 Retracted CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation. Nat Med 2010 2.17
7 ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol 2009 2.09
8 Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004 2.01
9 Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood 2008 1.83
10 Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen. Pediatr Hematol Oncol 2012 1.65
11 Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr 2009 1.62
12 The genotype of the original Wiskott phenotype. N Engl J Med 2006 1.57
13 Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood 2002 1.54
14 The burden of varicella complications before the introduction of routine varicella vaccination in Germany. Pediatr Infect Dis J 2008 1.52
15 X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 2010 1.51
16 Incidence and risk factors of respiratory syncytial virus-related hospitalizations in premature infants in Germany. Eur J Pediatr 2003 1.39
17 DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 2015 1.32
18 Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2013 1.31
19 Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet 2002 1.24
20 ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol 2004 1.11
21 Hematologically important mutations: leukocyte adhesion deficiency (first update). Blood Cells Mol Dis 2011 1.04
22 Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol 2010 1.03
23 Rates of postoperative complications among human immunodeficiency virus-infected women who have undergone obstetric and gynecologic surgical procedures. Clin Infect Dis 2002 1.01
24 Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest 2002 1.00
25 Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw 2006 1.00
26 Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004 0.98
27 Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation. J Clin Immunol 2014 0.98
28 Neurologic varicella complications before routine immunization in Germany. Pediatr Neurol 2010 0.98
29 Economic evaluation of possible prevention of RSV-related hospitalizations in premature infants in Germany. Eur J Pediatr 2003 0.96
30 Placental transfer and pharmacokinetics of lopinavir and other protease inhibitors in combination with nevirapine at delivery. AIDS 2006 0.96
31 Clinical score for nonbacterial osteitis in children and adults. Arthritis Rheum 2009 0.96
32 Intracellular T-cell cytokine levels are age-dependent in healthy children and adults. Eur Cytokine Netw 2005 0.95
33 Acellular pertussis booster in adolescents induces Th1 and memory CD8+ T cell immune response. PLoS One 2011 0.93
34 Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease. J Allergy Clin Immunol 2007 0.91
35 Differences of humoral and cellular immune response to an acellular pertussis booster in adolescents with a whole cell or acellular primary vaccination. Vaccine 2008 0.90
36 Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. J Allergy Clin Immunol 2010 0.90
37 The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. Hum Mutat 2010 0.90
38 Comèl-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 2009 0.88
39 Intravenous immunoglobulins contain naturally occurring antibodies that mimic antineutrophil cytoplasmic antibodies and activate neutrophils in a TNFalpha-dependent and Fc-receptor-independent way. Blood 2007 0.88
40 Immunocompetent children account for the majority of complications in childhood herpes zoster. J Infect Dis 2007 0.87
41 The risk of respiratory syncytial virus-related hospitalizations in preterm infants of 29 to 35 weeks' gestational age. Pediatr Infect Dis J 2006 0.87
42 A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin Immunol 2013 0.86
43 Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood 2002 0.85
44 Celiac disease and pulmonary hemosiderosis in a patient with chronic granulomatous disease. Pediatr Pulmonol 2004 0.84
45 AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome? Immunol Lett 2009 0.83
46 A liquid hexavalent combined vaccine against diphtheria, tetanus, pertussis, poliomyelitis, Haemophilus influenzae type B and hepatitis B: review of immunogenicity and safety. Vaccine 2004 0.82
47 A new low-penetrance TNFRSF1A mutation causing atypical periodic fever. Pediatr Int 2006 0.81
48 Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. J Clin Immunol 2013 0.81
49 A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. Pediatrics 2004 0.81
50 Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy. J Pediatr Gastroenterol Nutr 2009 0.80
51 Successful antifungal combination therapy with voriconazole and caspofungin. Pediatr Blood Cancer 2005 0.79
52 Lack of serologic immunity against vaccine-preventable diseases in children after thoracic transplantation. Transpl Int 2009 0.79
53 Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. J Allergy Clin Immunol 2011 0.79
54 Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets 2012 0.78
55 Rituximab-induced long-term remission in two children with SLE. Eur J Pediatr 2006 0.78
56 A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease. Blood Cells Mol Dis 2005 0.78
57 Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). J Allergy Clin Immunol 2012 0.77
58 Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases. J Allergy Clin Immunol 2011 0.76
59 Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. Eur J Hum Genet 2005 0.75
60 Reactive arthritis associated with prolonged cryptosporidial infection. J Infect 2003 0.75
61 Impaired cellular immune response to diphtheria and tetanus vaccines in children after thoracic transplantation. Pediatr Transplant 2011 0.75