Ehl, Stephan R.

Top Publications

Top Publications Authored or Co-Authored by "Ehl, Stephan R."

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

  Journal of Allergy and Clinical Immunology, Volume 124, No. 6, Year 2009, Citations 479
• Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

  Journal of Experimental Medicine, Volume 204, No. 10, Year 2007, Citations 396
• The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: Implications for differential diagnosis and pathogenesis

  Haematologica, Volume 100, No. 7, Year 2015, Citations 158
• Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

  Blood, Volume 119, No. 25, Year 2012, Citations 142
• The European internet-based patient and research database for primary immunodeficiencies: Update 2011

  Clinical and Experimental Immunology, Volume 167, No. 3, Year 2012, Citations 101