Long-Term Outcomes and Health-Related Quality of Life in a Swiss Patient Group with Esophageal Atresia.

Autor: di Natale A; Department of Pediatric Surgery, University Children's Hospital Zurich, Zurich, Switzerland., Brestel J; Department of Pediatric Surgery, University Children's Hospital Zurich, Zurich, Switzerland., Mauracher AA; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Tharakan SJ; Department of Pediatric Surgery, University Children's Hospital Zurich, Zurich, Switzerland., Meuli M; Department of Pediatric Surgery, University Children's Hospital Zurich, Zurich, Switzerland., Möhrlen U; Department of Pediatric Surgery, University Children's Hospital Zurich, Zurich, Switzerland., Subotic U; Department of Pediatric Surgery, University Children's Hospital Zurich, Zurich, Switzerland.

Publikováno v: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie [Eur J Pediatr Surg] 2022 Aug; Vol. 32 (4), pp. 334-345. Date of Electronic Publication: 2021 Jul 29.

Whole-exome sequencing of T ^- B ⁺ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.

Autor: El Hawary R; Faculty of Medicine, Clinical Pathology Department, Cairo University, Cairo, Egypt., Meshaal S; Faculty of Medicine, Clinical Pathology Department, Cairo University, Cairo, Egypt., Mauracher AA; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Opitz L; ETH Zurich, Functional Genomics Center Zürich, University of Zurich, Zurich, Switzerland., Abd Elaziz D; Faculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt., Lotfy S; Faculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt., Eldash A; Faculty of Medicine, Clinical Pathology Department, Cairo University, Cairo, Egypt., Boutros J; Faculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt., Galal N; Faculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt., Pachlopnik Schmid J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Elmarsafy A; Faculty of Medicine, Pediatrics Department, Cairo University, Cairo, Egypt.

Publikováno v: Clinical and experimental immunology [Clin Exp Immunol] 2021 Mar; Vol. 203 (3), pp. 448-457. Date of Electronic Publication: 2020 Nov 02.

Obesity-Induced Increase in Cystatin C Alleviates Tissue Inflammation.

Autor: Dedual MA; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Wueest S; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland., Challa TD; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland., Lucchini FC; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland., Aeppli TRJ; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland., Borsigova M; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.; Children's Research Center, University Children's Hospital, Zurich, Switzerland., Mauracher AA; Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Division of Pediatric Immunology, University Children's Hospital, Zurich, Switzerland., Vavassori S; Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Division of Pediatric Immunology, University Children's Hospital, Zurich, Switzerland., Pachlopnik Schmid J; Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Division of Pediatric Immunology, University Children's Hospital, Zurich, Switzerland., Blüher M; Department of Medicine, Endocrinology and Diabetes, University of Leipzig, Leipzig, Germany., Konrad D; Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland daniel.konrad@kispi.uzh.ch.; Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.

Publikováno v: Diabetes [Diabetes] 2020 Sep; Vol. 69 (9), pp. 1927-1935. Date of Electronic Publication: 2020 Jul 02.

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia.

Autor: Mauracher AA; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Eekels JJM; Division of Haematology, University Children's Hospital Zurich, Zurich, Switzerland., Woytschak J; Department of Immunology, University Hospital Zurich, University of Zurich, Zurich, Switzerland., van Drogen A; Institute of Molecular Systems Biology, ETH Zurich, Zurich, Switzerland., Bosch A; Division of Haematology, University Children's Hospital Zurich, Zurich, Switzerland., Prader S; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Felber M; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Division of Haematology, University Children's Hospital Zurich, Zurich, Switzerland., Heeg M; Institute of Immunodeficiency and Center for Chronic Immunodeficiency, University Medical Center, Freiburg, Germany., Opitz L; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Functional Genomics Center Zürich, University of Zurich, ETH Zurich, Zurich, Switzerland., Trück J; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland., Schroeder S; Division of Rheumatology, University Children's Hospital Zurich, Zurich, Switzerland., Adank E; Division of Rheumatology, University Children's Hospital Zurich, Zurich, Switzerland., Klocperk A; Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Haralambieva E; Department of Pathology University and University Hospital Zurich, Zurich, Switzerland., Zimmermann D; Department of Pathology University and University Hospital Zurich, Zurich, Switzerland., Tantou S; First Department of Paediatrics, Aghia Sophia Children's Hospital, Athens, Greece., Kotsonis K; First Department of Paediatrics, Aghia Sophia Children's Hospital, Athens, Greece., Stergiou A; First Department of Paediatrics, Aghia Sophia Children's Hospital, Athens, Greece., Kanariou MG; First Department of Paediatrics, Aghia Sophia Children's Hospital, Athens, Greece., Ehl S; Institute of Immunodeficiency and Center for Chronic Immunodeficiency, University Medical Center, Freiburg, Germany., Boyman O; Department of Immunology, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Sediva A; Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Renella R; Pediatric Hematology-Oncology Unit, Division of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland., Schmugge M; Division of Haematology, University Children's Hospital Zurich, Zurich, Switzerland., Vavassori S; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Pachlopnik Schmid J; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland. Electronic address: jana.pachlopnikr@kispi.uzh.ch.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2020 Apr; Vol. 145 (4), pp. 1297-1301. Date of Electronic Publication: 2019 Dec 17.

Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.

Autor: Meshaal SS; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., El Hawary RE; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Abd Elaziz DS; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Eldash A; Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Alkady R; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Lotfy S; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Mauracher AA; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Opitz L; Functional Genomics Center Zürich, University of Zurich, ETH Zurich, Zurich, Switzerland., Pachlopnik Schmid J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., van der Burg M; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Chou J; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Galal NM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Boutros JA; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Geha R; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Elmarsafy AM; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: Clinical and experimental immunology [Clin Exp Immunol] 2019 Feb; Vol. 195 (2), pp. 202-212. Date of Electronic Publication: 2018 Nov 04.