Sudha Sharma1, Biman Saikia2, Shubham Goel1, Amit Rawat3, Ranjana W Minz1, Deepti Suri3, Seema Chhabra1, Surjit Singh3. 1. Department of Immunopathology, Postgraduate Institute of Medical Education and Research, 19, 4th Floor, Research Block-A, Chandigarh, 160012, India. 2. Department of Immunopathology, Postgraduate Institute of Medical Education and Research, 19, 4th Floor, Research Block-A, Chandigarh, 160012, India. bimansaikia@hotmail.com. 3. Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Abstract
OBJECTIVES: To assess the utility of T helper17 (TH17) cell enumeration vis-à-vis National Institutes of Health (NIH) scoring in Hyper IgE syndrome (HIES). METHODS: Clinical phenotypes of Hyper IgE syndrome patients with and without STAT3 mutation were analysed and correlated with absolute eosinophil count, serum IgE levels and TH17 cell numbers in 19 patients with clinically suspected HIES and compared with healthy controls (n = 20). RESULTS: The difference in serum IgE between patients with and without STAT3 mutation and healthy controls was statistically significant (p < 0.05). Six patients had NIH score > 40; of which 4 were positive for STAT3 pathogenic variants, whereas two patients in the group with no identifiable STAT3 pathogenic variant had NIH score > 40. NIH score had sensitivity of 80 % and specificity of 87.5 % to detect cases with STAT3 pathogenic variants. TH17 cells were markedly low in all cases with STAT3 pathogenic variants. Among patients without STAT3 pathogenic variants, none had low TH17 cell numbers. CONCLUSIONS: Low TH17 cell numbers together with NIH scores can be a better indicator for presence of STAT3 mutations.
OBJECTIVES: To assess the utility of T helper17 (TH17) cell enumeration vis-à-vis National Institutes of Health (NIH) scoring in Hyper IgE syndrome (HIES). METHODS: Clinical phenotypes of Hyper IgE syndromepatients with and without STAT3 mutation were analysed and correlated with absolute eosinophil count, serum IgE levels and TH17 cell numbers in 19 patients with clinically suspected HIES and compared with healthy controls (n = 20). RESULTS: The difference in serum IgE between patients with and without STAT3 mutation and healthy controls was statistically significant (p < 0.05). Six patients had NIH score > 40; of which 4 were positive for STAT3 pathogenic variants, whereas two patients in the group with no identifiable STAT3 pathogenic variant had NIH score > 40. NIH score had sensitivity of 80 % and specificity of 87.5 % to detect cases with STAT3 pathogenic variants. TH17 cells were markedly low in all cases with STAT3 pathogenic variants. Among patients without STAT3 pathogenic variants, none had low TH17 cell numbers. CONCLUSIONS: Low TH17 cell numbers together with NIH scores can be a better indicator for presence of STAT3 mutations.
Authors: Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk N Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John I Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher Journal: N Engl J Med Date: 2007-09-19 Impact factor: 91.245
Authors: Amy P Hsu; Kathryn J Sowerwine; Monica G Lawrence; Joie Davis; Carolyn J Henderson; Kol A Zarember; Mary Garofalo; John I Gallin; Douglas B Kuhns; Theo Heller; Joshua D Milner; Jennifer M Puck; Alexandra F Freeman; Steven M Holland Journal: J Allergy Clin Immunol Date: 2013-04-25 Impact factor: 10.793
Authors: Lena F Schimke; Julie Sawalle-Belohradsky; Joachim Roesler; Andreas Wollenberg; Anita Rack; Michael Borte; Nikolaus Rieber; Reinhold Cremer; Eberhart Maass; Roland Dopfer; Janine Reichenbach; Volker Wahn; Manfred Hoenig; Annette F Jansson; Angela Roesen-Wolff; Bianca Schaub; Reinhard Seger; Harry R Hill; Hans D Ochs; Troy R Torgerson; Bernd H Belohradsky; Ellen D Renner Journal: J Allergy Clin Immunol Date: 2010-09 Impact factor: 10.793
Authors: Eleonore D Renner; Jennifer M Puck; Steven M Holland; Markus Schmitt; Michael Weiss; Michael Frosch; Markus Bergmann; Joie Davis; Bernd H Belohradsky; Bodo Grimbacher Journal: J Pediatr Date: 2004-01 Impact factor: 4.406
Authors: Ellen D Renner; Stacey Rylaarsdam; Stephanie Anover-Sombke; Anita L Rack; Janine Reichenbach; John C Carey; Qili Zhu; Annette F Jansson; Julia Barboza; Lena F Schimke; Mark F Leppert; Melissa M Getz; Reinhard A Seger; Harry R Hill; Bernd H Belohradsky; Troy R Torgerson; Hans D Ochs Journal: J Allergy Clin Immunol Date: 2008-07 Impact factor: 10.793
Authors: C Speckmann; A Enders; C Woellner; D Thiel; A Rensing-Ehl; M Schlesier; J Rohr; T Jakob; E Oswald; M V Kopp; O Sanal; J Litzman; A Plebani; M C Pietrogrande; J L Franco; T Espanol; B Grimbacher; S Ehl Journal: Clin Immunol Date: 2008-10-02 Impact factor: 3.969
Authors: Cristina Woellner; E Michael Gertz; Alejandro A Schäffer; Macarena Lagos; Mario Perro; Erik-Oliver Glocker; Maria C Pietrogrande; Fausto Cossu; José L Franco; Nuria Matamoros; Barbara Pietrucha; Edyta Heropolitańska-Pliszka; Mehdi Yeganeh; Mostafa Moin; Teresa Español; Stephan Ehl; Andrew R Gennery; Mario Abinun; Anna Breborowicz; Tim Niehues; Sara Sebnem Kilic; Anne Junker; Stuart E Turvey; Alessandro Plebani; Berta Sánchez; Ben-Zion Garty; Claudio Pignata; Caterina Cancrini; Jiri Litzman; Ozden Sanal; Ulrich Baumann; Rosa Bacchetta; Amy P Hsu; Joie N Davis; Lennart Hammarström; E Graham Davies; Efrem Eren; Peter D Arkwright; Jukka S Moilanen; Dorothee Viemann; Sujoy Khan; László Maródi; Andrew J Cant; Alexandra F Freeman; Jennifer M Puck; Steven M Holland; Bodo Grimbacher Journal: J Allergy Clin Immunol Date: 2010-02 Impact factor: 10.793
Authors: Bianca Cinicola; Federica Pulvirenti; Giulia Brindisi; Gian Luigi Marseglia; Riccardo Castagnoli; Thomas Foiadelli; Carlo Caffarelli; Amelia Licari; Michele Miraglia Del Giudice; Anna Maria Zicari; Marzia Duse; Fabio Cardinale Journal: Acta Biomed Date: 2021-11-29