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Zeitschrift

Journal of Clinical Immunology

Journal of Clinical Immunology 6/2020

Ausgabe 6/2020

Inhaltsverzeichnis ( 17 Artikel )

25.07.2020 | Commentary | Ausgabe 6/2020

Bourgeoning Scientific Research in Down Syndrome

Dusan Bogunovic

07.07.2020 | CME Review | Ausgabe 6/2020

Inborn Errors of Adaptive Immunity in Down Syndrome

Ruud H.J. Verstegen, Maaike A.A. Kusters

22.06.2020 | Original Article | Ausgabe 6/2020

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Xiao-Fei Kong, Lisa Worley, Darawan Rinchai, Vincent Bondet, Puthen Veettil Jithesh, Marie Goulet, Emilie Nonnotte, Anne Sophie Rebillat, Martine Conte, Clotilde Mircher, Nicolas Gürtler, Luyan Liu, Mélanie Migaud, Mohammed Elanbari, Tanwir Habib, Cindy S. Ma, Jacinta Bustamante, Laurent Abel, Aimé Ravel, Stanislas Lyonnet, Arnold Munnich, Darragh Duffy, Damien Chaussabel, Jean-Laurent Casanova, Stuart G Tangye, Stéphanie Boisson-Dupuis, Anne Puel

06.06.2020 | Original Article | Ausgabe 6/2020

Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients

Safa Meshaal, Rabab El Hawary, Rana Adel, Dalia Abd Elaziz, Aya Erfan, Sohilla Lotfy, Mona Hafez, Mona Hassan, Matthew Johnson, Jessica Rojas-Restrepo, Laura Gamez-Diaz, Bodo Grimbacher, Walaa Shoman, Yasmine Abdelmeguid, Jeannette Boutros, Nermeen Galal, Nancy El-Guindy, Aisha Elmarsafy

08.06.2020 | Original Article | Ausgabe 6/2020

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

Bandar Al-Saud, Zainab Al Alawi, Faisal Bin Hussain, Michael Hershfield, Fowzan S. Alkuraya, Sulaiman M. Al-Mayouf

10.06.2020 | Original Article | Ausgabe 6/2020

Proteomic Analysis of the Acid-Insoluble Fraction of Whole Saliva from Patients Affected by Different Forms of Non-histaminergic Angioedema

Davide Firinu, Morena Arba, Federica Vincenzoni, Federica Iavarone, Giulia Costanzo, Tiziana Cabras, Massimo Castagnola, Irene Messana, Stefano R. Del Giacco, Maria T. Sanna

27.06.2020 | Original Article | Ausgabe 6/2020

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Francesco Saettini, Richard Herriot, Elisabetta Prada, Mathilde Nizon, Daniele Zama, Antonio Marzollo, Igor Romaniouk, Vassilios Lougaris, Manuela Cortesi, Alessia Morreale, Rika Kosaki, Fabio Cardinale, Silvia Ricci, Elena Domínguez-Garrido, Davide Montin, Marie Vincent, Donatella Milani, Andrea Biondi, Cristina Gervasini, Raffaele Badolato

30.06.2020 | Original Article | Ausgabe 6/2020

Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

Alexandra Laberko, Elvira Sultanova, Elena Gutovskaya, Svetlana Radygina, Elena Deripapa, Aishat Kantulaeva, Pavel Trakhtman, Varvara Brilliantova, Julia Starichkova, Anna Shcherbina, Michael Maschan, Alexei Maschan, Dmitry Balashov

30.06.2020 | Original Article | Ausgabe 6/2020

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

Seyed Alireza Mahdaviani, Davood Mansouri, Mahnaz Jamee, Majid Zaki-Dizaji, Karim Rahimi Aghdam, Esmail Mortaz, MirHojjat Khorasanizadeh, Mahsa Eskian, Mahshid Movahedi, Hosseinali Ghaffaripour, Nooshin Baghaie, Maryam Hassanzad, Zahra Chavoshzadeh, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Mehdi Ghaini, Farzad Noori, Shabnam Eskandarzadeh, Shahram Kahkooi, Mihan Poorabdolah, Payam Tabarsi, Afshin Moniri, Parisa Farnia, Abdollah Karimi, Stéphanie Boisson-Dupuis, Nima Rezaei, Majid Marjani, Jean-Laurent Casanova, Jacinta Bustamante, Ali Akbar Velayati

03.07.2020 | Original Article | Ausgabe 6/2020

Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect

Khusan Khodzhaev, Sema Buyukkapu Bay, Rejin Kebudi, Didem Altindirek, Aysenur Kaya, Yucel Erbilgin, Ozden Hatirnaz Ng, Ayca Kiykim, Funda Cipe Erol, Feride Sen Zengin, Sinem Firtina, Yuk Yin Ng, Basak Adakli Aksoy, Muge Sayitoglu

05.07.2020 | Original Article | Ausgabe 6/2020

Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report

Jun Yang, Guang-Hua Zhu, Bin Wang, Rui Zhang, Chen-Guang Jia, Yan Yan, Hong-Hao Ma, Mao-Quan Qin

07.07.2020 | Original Article | Ausgabe 6/2020

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

Annaliesse Blincoe, Maximilian Heeg, Patrick K. Campbell, Melissa Hines, Amer Khojah, Marisa Klein-Gitelman, Julie-An Talano, Carsten Speckmann, Fabien Touzot, Arjan Lankester, Geertje E. Legger, Jacques G. Rivière, Marina Garcia-Prat, Laura Alonso, Maria C. Putti, Kai Lehmberg, Sarah Maier, Yasmine El Chazli, Marwa Abd Elmaksoud, Itziar Astigarraga, Natalja Kurjane, Inita Bulina, Viktorija Kenina, Yenan Bryceson, Jelena Rascon, Anne Lortie, Gal Goldstein, Claire Booth, Austen Worth, Evangeline Wassmer, Erica G. Schmitt, Julia T. Warren, Jeffrey J. Bednarski, Salah Ali, Kuang-Yueh Chiang, Joerg Krueger, Michael M. Henry, Steven M. Holland, Rebecca A. Marsh, Stephan Ehl, Elie Haddad

08.07.2020 | Original Article | Ausgabe 6/2020

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, Deborah L. Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T. Bjornsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich

02.07.2020 | Letter to Editor | Ausgabe 6/2020

A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation

Francesca Conti, Rita Carsetti, Jean-Laurent Casanova, Alain Fischer, Caterina Cancrini

04.07.2020 | Letter to Editor | Ausgabe 6/2020

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis

Neslihan Akdogan, Erdem Kindis, Ecem Bostan, Eda Utine, Mehmet Alikasifoglu, Sibel Ersoy-Evans

07.07.2020 | Letter to Editor | Ausgabe 6/2020

Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats’ Disease and Literature Review

Mahsima Shabani, Roxana Pazouki, Mahmoud Parvin, Alireza Khodabande, Karin van Leeuwen, Mohammad Shahrooei, Nima Parvaneh

08.07.2020 | Letter to Editor | Ausgabe 6/2020

Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2

Tom Le Voyer, David Boutboul, Albane Ledoux-Pilon, Flore Sicre de Fontbrune, Guilaine Boursier, Sylvain Latour, Guillaume Le Guenno

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