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Results: 17

Bourgeoning Scientific Research in Down Syndrome.
Published in:
2020
By:
- Bogunovic, Dusan
Publication type:
Editorial
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 917, doi. 10.1007/s10875-020-00817-3
By:
- Schnappauf, Oskar;
- Zhou, Qing;
- Moura, Natalia Sampaio;
- Ombrello, Amanda K.;
- Michael, Drew G.;
- Deuitch, Natalie;
- Barron, Karyl;
- Stone, Deborah L.;
- Hoffmann, Patrycja;
- Hershfield, Michael;
- Applegate, Carolyn;
- Bjornsson, Hans T.;
- Beck, David B.;
- Witmer, P. Dane;
- Sobreira, Nara;
- Wohler, Elizabeth;
- Chiorini, John A.;
- Center, The American Genome;
- Dalgard, Clifton L.;
- Center, NIH Intramural Sequencing
Publication type:
Article
Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 883, doi. 10.1007/s10875-020-00816-4
By:
- Khodzhaev, Khusan;
- Bay, Sema Buyukkapu;
- Kebudi, Rejin;
- Altindirek, Didem;
- Kaya, Aysenur;
- Erbilgin, Yucel;
- Ng, Ozden Hatirnaz;
- Kiykim, Ayca;
- Erol, Funda Cipe;
- Zengin, Feride Sen;
- Firtina, Sinem;
- Ng, Yuk Yin;
- Aksoy, Basak Adakli;
- Sayitoglu, Muge
Publication type:
Article
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 901, doi. 10.1007/s10875-020-00814-6
By:
- Blincoe, Annaliesse;
- Heeg, Maximilian;
- Campbell, Patrick K.;
- Hines, Melissa;
- Khojah, Amer;
- Klein-Gitelman, Marisa;
- Talano, Julie-An;
- Speckmann, Carsten;
- Touzot, Fabien;
- Lankester, Arjan;
- Legger, Geertje E.;
- Rivière, Jacques G.;
- Garcia-Prat, Marina;
- Alonso, Laura;
- Putti, Maria C.;
- Lehmberg, Kai;
- Maier, Sarah;
- El Chazli, Yasmine;
- Elmaksoud, Marwa Abd;
- Astigarraga, Itziar
Publication type:
Article
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.
Published in:
2020
By:
- Akdogan, Neslihan;
- Kindis, Erdem;
- Bostan, Ecem;
- Utine, Eda;
- Alikasifoglu, Mehmet;
- Ersoy-Evans, Sibel
Publication type:
Letter
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 872, doi. 10.1007/s10875-020-00813-7
By:
- Mahdaviani, Seyed Alireza;
- Mansouri, Davood;
- Jamee, Mahnaz;
- Zaki-Dizaji, Majid;
- Aghdam, Karim Rahimi;
- Mortaz, Esmail;
- Khorasanizadeh, MirHojjat;
- Eskian, Mahsa;
- Movahedi, Mahshid;
- Ghaffaripour, Hosseinali;
- Baghaie, Nooshin;
- Hassanzad, Maryam;
- Chavoshzadeh, Zahra;
- Mansouri, Mahboubeh;
- Mesdaghi, Mehrnaz;
- Ghaini, Mehdi;
- Noori, Farzad;
- Eskandarzadeh, Shabnam;
- Kahkooi, Shahram;
- Poorabdolah, Mihan
Publication type:
Article
Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2.
Published in:
2020
By:
- Le Voyer, Tom;
- Boutboul, David;
- Ledoux-Pilon, Albane;
- de Fontbrune, Flore Sicre;
- Boursier, Guilaine;
- Latour, Sylvain;
- Le Guenno, Guillaume
Publication type:
Letter
Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 861, doi. 10.1007/s10875-020-00811-9
By:
- Laberko, Alexandra;
- Sultanova, Elvira;
- Gutovskaya, Elena;
- Radygina, Svetlana;
- Deripapa, Elena;
- Kantulaeva, Aishat;
- Trakhtman, Pavel;
- Brilliantova, Varvara;
- Starichkova, Julia;
- Shcherbina, Anna;
- Maschan, Michael;
- Maschan, Alexei;
- Balashov, Dmitry
Publication type:
Article
Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats' Disease and Literature Review.
Published in:
2020
By:
- Shabani, Mahsima;
- Pazouki, Roxana;
- Parvin, Mahmoud;
- Khodabande, Alireza;
- van Leeuwen, Karin;
- Shahrooei, Mohammad;
- Parvaneh, Nima
Publication type:
Letter
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 851, doi. 10.1007/s10875-020-00808-4
By:
- Saettini, Francesco;
- Herriot, Richard;
- Prada, Elisabetta;
- Nizon, Mathilde;
- Zama, Daniele;
- Marzollo, Antonio;
- Romaniouk, Igor;
- Lougaris, Vassilios;
- Cortesi, Manuela;
- Morreale, Alessia;
- Kosaki, Rika;
- Cardinale, Fabio;
- Ricci, Silvia;
- Domínguez-Garrido, Elena;
- Montin, Davide;
- Vincent, Marie;
- Milani, Donatella;
- Biondi, Andrea;
- Gervasini, Cristina;
- Badolato, Raffaele
Publication type:
Article
Inborn Errors of Adaptive Immunity in Down Syndrome.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 791, doi. 10.1007/s10875-020-00805-7
By:
- Verstegen, Ruud H.J.;
- Kusters, Maaike A.A.
Publication type:
Article
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 807, doi. 10.1007/s10875-020-00803-9
By:
- Kong, Xiao-Fei;
- Worley, Lisa;
- Rinchai, Darawan;
- Bondet, Vincent;
- Jithesh, Puthen Veettil;
- Goulet, Marie;
- Nonnotte, Emilie;
- Rebillat, Anne Sophie;
- Conte, Martine;
- Mircher, Clotilde;
- Gürtler, Nicolas;
- Liu, Luyan;
- Migaud, Mélanie;
- Elanbari, Mohammed;
- Habib, Tanwir;
- Ma, Cindy S.;
- Bustamante, Jacinta;
- Abel, Laurent;
- Ravel, Aimé;
- Lyonnet, Stanislas
Publication type:
Article
Proteomic Analysis of the Acid-Insoluble Fraction of Whole Saliva from Patients Affected by Different Forms of Non-histaminergic Angioedema.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 840, doi. 10.1007/s10875-020-00802-w
By:
- Firinu, Davide;
- Arba, Morena;
- Vincenzoni, Federica;
- Iavarone, Federica;
- Costanzo, Giulia;
- Cabras, Tiziana;
- Castagnola, Massimo;
- Messana, Irene;
- Del Giacco, Stefano R.;
- Sanna, Maria T.
Publication type:
Article
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 833, doi. 10.1007/s10875-020-00800-y
By:
- Al-Saud, Bandar;
- Al Alawi, Zainab;
- Hussain, Faisal Bin;
- Hershfield, Michael;
- Alkuraya, Fowzan S.;
- Al-Mayouf, Sulaiman M.
Publication type:
Article
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 820, doi. 10.1007/s10875-020-00799-2
By:
- Meshaal, Safa;
- El Hawary, Rabab;
- Adel, Rana;
- Abd Elaziz, Dalia;
- Erfan, Aya;
- Lotfy, Sohilla;
- Hafez, Mona;
- Hassan, Mona;
- Johnson, Matthew;
- Rojas-Restrepo, Jessica;
- Gamez-Diaz, Laura;
- Grimbacher, Bodo;
- Shoman, Walaa;
- Abdelmeguid, Yasmine;
- Boutros, Jeannette;
- Galal, Nermeen;
- El-Guindy, Nancy;
- Elmarsafy, Aisha
Publication type:
Article
Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 893, doi. 10.1007/s10875-020-00795-6
By:
- Yang, Jun;
- Zhu, Guang-Hua;
- Wang, Bin;
- Zhang, Rui;
- Jia, Chen-Guang;
- Yan, Yan;
- Ma, Hong-Hao;
- Qin, Mao-Quan
Publication type:
Article
A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation.
Published in:
2020
By:
- Conti, Francesca;
- Carsetti, Rita;
- Casanova, Jean-Laurent;
- Fischer, Alain;
- Cancrini, Caterina
Publication type:
Letter