共 50 条
- [41] A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell TransplantationJOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (08) : 1273 - 1275Carlos Aldave, Juan论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, Peru Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruCachay, Enrique论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, Peru Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruNunez, Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, Peru Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruChunga, Ausberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Edgardo Rebagliati Martins, Histocompatibil Lab, Lima, Peru Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruMurillo, Sergio论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Edgardo Rebagliati Martins, Div Hematol, Lima, Peru Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruCypowyj, Sophie论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruBustamante, Jacinta论文数: 0 引用数: 0 h-index: 0机构: INSERM, U980, Necker Branch, Necker Med Sch,Lab Human Genet Infect Dis, Paris, France Univ Paris 05, Paris, France Hop Necker Enfants Malad, Assistance Publ Hop Paris, Ctr Study Primary Immunodeficiencies, Paris, France Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruPuel, Anne论文数: 0 引用数: 0 h-index: 0机构: INSERM, U980, Necker Branch, Necker Med Sch,Lab Human Genet Infect Dis, Paris, France Univ Paris 05, Paris, France Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruCasanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA INSERM, U980, Necker Branch, Necker Med Sch,Lab Human Genet Infect Dis, Paris, France Univ Paris 05, Paris, France Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit, Paris, France Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, PeruKoo, Armando论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, Peru Hosp Nacl Edgardo Rebagliati Martins, Allergy & Immunol Div, Lima, Peru
- [42] Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1)BMJ CASE REPORTS, 2020, 13 (04)Marinelli, Lisa论文数: 0 引用数: 0 h-index: 0机构: San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USA San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USARistagno, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Minnesota, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USAFischer, Philip论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Minnesota, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USAAbraham, Roshini论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pathol, Columbus, OH USA San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USAJoshi, Avni论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Minnesota, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USA
- [43] STAT1 Gain-of-Function Variant as a Cause of Chronic Mucocutaneous Candidiasis and SteatorrheaJOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S57 - S58Scanlon, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USADilley, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USAWoo, Wonhee论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USACollins, Cathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USALaubach, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USAGeng, Bob论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USALeibel, Sydney论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Calif San Diego, La Jolla, CA 92093 USALand, Michael论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Southern Calif, La Jolla, CA USA Univ Calif San Diego, La Jolla, CA 92093 USA
- [44] Autosomal dominant gain of function STAT1 mutation and severe bronchiectasisRESPIRATORY MEDICINE, 2017, 126 : 39 - 45Breuer, Oded论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Pediat Pulm Unit, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelDaum, Hagit论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelCohen-Cymberknoh, Malena论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Pediat Pulm Unit, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelUnger, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, Fac Biol, Schaenzlestr 1, D-79104 Freiburg, Germany Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelShoseyov, David论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Pediat Pulm Unit, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelStepensky, Polina论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Pediat Hematol Oncol & Bone Marrow Transplan, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelKeller, Baerbel论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, CCI, D-79106 Freiburg, Germany Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelWarnatz, Klaus论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Med Ctr, CCI, D-79106 Freiburg, Germany Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, IsraelKerem, Eitan论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Pediat Pulm Unit, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Dept Pediat, IL-91120 Jerusalem, Israel
- [45] Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature ReviewMYCOPATHOLOGIA, 2023, 188 (1-2) : 87 - 97论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [46] Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 MutationJOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2020, 71 (04) : E132 - E133Acker, Karen P.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USABorlack, Rachel论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USAIuga, Alina论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USARemotti, Helen E.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USASoderquist, Craig R.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, Irving Med Ctr, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USAOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USATsumura, Miyuki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USACasanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USAPicoraro, Joseph论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Irving Med Center, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USAPuel, Anne论文数: 0 引用数: 0 h-index: 0机构: Necker Hosp Sick Children, Lab Human Genet Infect Dis, Necker Branch, INSERM,U1163, Paris, France Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USAKinberg, Sivan论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Irving Med Center, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USADemirdag, Yesim论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Irving Med Center, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Weill Cornell Med, New York, NY 10027 USA
- [47] Inflammatory bowel disease in STAT1 gain-of-function immunodeficiency treated with precision medicineGUT, 2024, 73 (08) : 1394 - 1396Schwaerzler, Julian论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaZollner, Andreas论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaDolejsi, Theresa论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med Cardiol & Angiol 3, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaMayr, Lisa论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaOberhuber, Georg论文数: 0 引用数: 0 h-index: 0机构: Innsbruck Med Univ Hosp, INNPATH, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaZschocke, Johannes论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Inst Human Genet, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaSturm, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaTancevski, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med Infect Dis Immunol Rheumatol Pne, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaAdolph, Timon Erik论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, AustriaTilg, Herbert论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med Gastroenterol Hepatol Endocrinol, A-6020 Innsbruck, Austria Med Univ Innsbruck, Dept Internal Med 1, Gastroenterol Hepatol Endocrinol & Metab, Innsbruck, Austria
- [48] Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2023, 212 (02) : 96 - 106Asano, Takaki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanUtsumi, Takanori论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanKagawa, Reiko论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanKarakawa, Shuhei论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, JapanOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan
- [49] Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotypeBLOOD, 2016, 127 (25) : 3154 - 3164Toubiana, Julie论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Paris, France Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, INSERM,UMR1163, Paris, France Necker Enfants Malades Hosp, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceHiller, Julia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ, UNIKA T, Inst Environm Med, Augsburg, Germany Helmholtz Ctr Munich, Augsburg, Germany CK CARE, Davos, Switzerland Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceOleastro, Matias论文数: 0 引用数: 0 h-index: 0机构: Juan Pedro Garrahan Natl Hosp Pediat, Immunol & Reumatholoy Dept, Buenos Aires, DF, Argentina Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceLagos Gomez, Macarena论文数: 0 引用数: 0 h-index: 0机构: Univ Valparaiso, Sch Med, Dept Preclin, Valparaiso, Chile Padre Hurtado Clin Alemana Santiago Hosp, Valparaiso, Chile Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceAldave Becerra, Juan Carlos论文数: 0 引用数: 0 h-index: 0机构: Edgardo Rebagliati Martins Natl Hosp, Allergy & Immunol Div, Lima, Peru Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceOuachee-Chardin, Marie论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Hosp, AP HP, Pediat Hematol Oncol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceFouyssac, Fanny论文数: 0 引用数: 0 h-index: 0机构: Children Hosp, Pediat Oncol & Hematol Unit, Vandoeuvre Les Nancy, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceGirisha, Katta Mohan论文数: 0 引用数: 0 h-index: 0机构: Manipal Univ, Kasturba Med Coll, Dept Med Genet, Manipal, India Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceEtzioni, Amos论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp, Haifa, Israel Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceVan Montfrans, Joris论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Med Ctr, Dept Pediat Immunol Hematol & Infect Dis, Utrecht, Netherlands Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceCamcioglu, Yildiz论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Med Sch, Infect Dis Clin Immunol & Allergy Div, Dept Pediat, Istanbul, Turkey Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceKerns, Leigh Ann论文数: 0 引用数: 0 h-index: 0机构: Rainbow Babies & Childrens Hosp, Case Med Ctr, Div Pediat Pulmonol Allergy Immunol & Sleep Med, 2101 Adelbert Rd, Cleveland, OH 44106 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBelohradsky, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dr von Hauner Childrens Hosp, Munich, Germany Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBlanche, Stephane论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Paris, France Necker Enfants Malades Hosp, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBousfiha, Aziz论文数: 0 引用数: 0 h-index: 0机构: King Hassan II Univ, Ibn Rochd Hosp, Dept Pediat Infect Dis, Clin Immunol Unit, Casablanca, Morocco Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceRodriguez-Gallego, Carlos论文数: 0 引用数: 0 h-index: 0机构: Son Espases Univ Hosp, Dept Immunol, Palma de Mallorca, Spain Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceMeyts, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Leuven Univ Hosp, Dept Pediat, Leuven, Belgium Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceKisand, Kai论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Inst Biomed & Translat Med, Ulikooli 18, EE-50090 Tartu, Estonia Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France论文数: 引用数: h-index:机构:Renner, Ellen D.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dr von Hauner Childrens Hosp, Munich, Germany Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceRosenzweig, Sergio论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceGrimbacher, Bodo论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Med Ctr, Ctr Chron Immunodeficiency, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Hugstetter Str 55, D-79106 Freiburg, Germany Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, Francevan de Veerdonk, Frank L.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Infect Dis, Dept Internal Med, NL-6525 ED Nijmegen, Netherlands Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceTraidl-Hoffmann, Claudia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ, UNIKA T, Inst Environm Med, Augsburg, Germany Helmholtz Ctr Munich, Augsburg, Germany CK CARE, Davos, Switzerland Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FrancePicard, Capucine论文数: 0 引用数: 0 h-index: 0机构: Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, INSERM,UMR1163, Paris, France Necker Enfants Malades Hosp, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Study Ctr Immunodeficiencies, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceMarodi, Laszlo论文数: 0 引用数: 0 h-index: 0机构: Univ Debrecen, Fac Med, Dept Infect Dis & Pediat Immunol, Debrecen, Hungary Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceMorio, Tomohiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Pediat & Dev Biol, Tokyo, Japan Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceKobayashi, Masao论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceLilic, Desa论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceMilner, Joshua D.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceHolland, Steven论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceCasanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Paris, France Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, INSERM,UMR1163, Paris, France Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA Howard Hughes Med Inst, New York, NY USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France论文数: 引用数: h-index:机构:Cypowyj, Sophie论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceThumerelle, Caroline论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceToulon, Antoine论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBustamante, Jacinta论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceTahuil, Natalia论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceSalhi, Aicha论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBoiu, Sorina论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceChopra, Charu论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceDi Giovanni, Daniela论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBezrodnik, Liliana论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceBoutros, Jeannette论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceThomas, Caroline论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceLacuesta, Gina论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceJannier, Sarah论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FranceKorganow, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, FrancePaillard, Catherine论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France
- [50] Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging AssociationFRONTIERS IN IMMUNOLOGY, 2021, 12Martinot, Martin论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Colmar, Infect Dis Dept, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceKorganow, Anne Sophie论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Natl Reference Ctr Syst Autoimmune Dis CNR RESO, Tertiary Ctr Primary Immunodeficiency, Dept Clin Immunol & Internal Med, Strasbourg, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceWald, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Colmar, Infect Dis Dept, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceSecond, Julie论文数: 0 引用数: 0 h-index: 0机构: Hop Civils, Dept Dermatol, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceBirckel, Elodie论文数: 0 引用数: 0 h-index: 0机构: Hop Civils, Dept Dermatol, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceMahe, Antoine论文数: 0 引用数: 0 h-index: 0机构: Hop Civils, Dept Dermatol, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceSouply, Laurent论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Colmar, Dept Microbiol, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceMohseni-Zadeh, Mahsa论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Colmar, Infect Dis Dept, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceDroy, Laure论文数: 0 引用数: 0 h-index: 0机构: Hop Civils Colmar, Dept Pathol, Colmar, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceTarabeux, Julien论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Genet Diagnost Lab, Strasbourg, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, INSERM UMR 1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France Hop Civils Colmar, Infect Dis Dept, Colmar, FranceMigaud, Melanie论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Hop Civils Colmar, Infect Dis Dept, Colmar, FrancePuel, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, INSERM UMR 1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France Univ Paris, Imagine Inst, Paris, France Rockefeller Univ, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA Hop Civils Colmar, Infect Dis Dept, Colmar, FranceGuffroy, Aurelien论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Natl Reference Ctr Syst Autoimmune Dis CNR RESO, Tertiary Ctr Primary Immunodeficiency, Dept Clin Immunol & Internal Med, Strasbourg, France Hop Civils Colmar, Infect Dis Dept, Colmar, France