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Zeitschrift

Journal of Clinical Immunology

Journal of Clinical Immunology 4/2020

Ausgabe 4/2020

Inhaltsverzeichnis ( 18 Artikel )

16.05.2020 | Commentary | Ausgabe 4/2020

The Growing Spectrum of Human Diseases Caused by InheritedCDC42 Mutations

Helen C. Su, Jordan S. Orange

17.04.2020 | Original Article | Ausgabe 4/2020 Open Access

Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction

Jeffrey M. Verboon, Dilnar Mahmut, Ah Ram Kim, Mitsutoshi Nakamura, Nour J. Abdulhay, Satish K. Nandakumar, Namrata Gupta, Thomas E. Akie, Amy E. Geddis, Becky Manes, Meghan E. Kapp, Inga Hofmann, Stacey B. Gabriel, Daryl E. Klein, David A. Williams, Haydar A. Frangoul, Susan M. Parkhurst, Genevieve M. Crane, Alan B. Cantor, Vijay G. Sankaran

01.05.2020 | Letter to Editor | Ausgabe 4/2020

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation

Giorgia Bucciol, Bethany Pillay, Jose Casas-Martin, Selket Delafontaine, Marijke Proesmans, Natalie Lorent, Johan Coolen, Thomas Tousseyn, Xavier Bossuyt, Cindy S. Ma, Rik Schrijvers, Stuart G. Tangye, Leen Moens, Isabelle Meyts

18.05.2020 | Letter to Editor | Ausgabe 4/2020

A New Patient with NOCARH Syndrome Due to CDC42 Defect

Tingyan He, Yanyan Huang, Jiayun Ling, Jun Yang

17.02.2020 | Original Article | Ausgabe 4/2020 Open Access

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management

Nicholas Brodszki, Ashley Frazer-Abel, Anete S. Grumach, Michael Kirschfink, Jiri Litzman, Elena Perez, Mikko R. J. Seppänen, Kathleen E. Sullivan, Stephen Jolles

02.04.2020 | Original Article | Ausgabe 4/2020

Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum

Junghee J. Shin, Daniel Liauw, Sabrina Siddiqui, Juhyeon Lee, Eun Jae Chung, Ryan Steele, Florence Ida Hsu, Christina Price, Insoo Kang

15.04.2020 | Original Article | Ausgabe 4/2020

Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies

Saida Ridao-Manonellas, Anna Fábregas-Bofill, Gloria Núñez-Rueda, Míriam González-Amores, Marina García-Prat, Laura López-Seguer, Jacques G. Rivière, Andrea Martín-Nalda, Natalia Mendoza-Palomar, Susana Melendo-Pérez, Pere Soler-Palacín

19.04.2020 | Original Article | Ausgabe 4/2020 Open Access

Urogenital Abnormalities in Adenosine Deaminase Deficiency

Roberta Pajno, Lucia Pacillo, Salvatore Recupero, Maria P. Cicalese, Francesca Ferrua, Federica Barzaghi, Silvia Ricci, Antonio Marzollo, Silvia Pecorelli, Chiara Azzari, Andrea Finocchi, Caterina Cancrini, Gigliola Di Matteo, Gianni Russo, Massimo Alfano, Arianna Lesma, Andrea Salonia, Stuart Adams, Claire Booth, Alessandro Aiuti

20.04.2020 | Original Article | Ausgabe 4/2020

Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease

Mark Parta, Dianne Hilligoss, Corin Kelly, Nana Kwatemaa, Narda Theobald, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, Elizabeth M. Kang

06.05.2020 | Original Article | Ausgabe 4/2020

BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT

Alexandra Laberko, Daria Yukhacheva, Yulia Rodina, Dmitriy Abramov, Dmitriy Konovalov, Svetlana Radygina, Larisa Shelikhova, Dmitry Pershin, Olga Kadnikova, Michael Maschan, Alexei Maschan, Dmitry Balashov, Anna Shcherbina

13.03.2020 | Letter to Editor | Ausgabe 4/2020

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

Vahid Ziaee, Leila Youssefian, Masoomeh Faghankhani, Ali Jazayeri, Amir Hossein Saeidian, Hassan Vahidnezhad, Jouni Uitto

17.03.2020 | Letter to Editor | Ausgabe 4/2020

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Kunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, Sanem E. Akarcan, Necil Kutukculer, Guzide Aksu, Yoji Sasahara, Shigeo Kure, Hidenori Ohnishi, Jean-Laurent Casanova, Anne Puel, Toshiyuki Fukao

04.05.2020 | Correction | Ausgabe 4/2020

Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation

Kunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, Sanem E. Akarcan, Necil Kutukculer, Guzide Aksu, Yoji Sasahara, Shigeo Kure, Hidenori Ohnishi, Jean-Laurent Casanova, Anne Puel, Toshiyuki Fukao

27.03.2020 | Letter to Editor | Ausgabe 4/2020

Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation

Ming Liu, Bingtai Lu, Ping Zeng, Bing Huang, Yanhui Xu, Hanquan Liang, Diyuan Yang, Sida Yang, Hai-bin Luo, Andrew M. Lew, Seth L. Masters, Lanlan Geng, Huasong Zeng, Yuxia Zhang

21.04.2020 | Letter to Editor | Ausgabe 4/2020

Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency

Daniel J. Groth, Madhavi M. Lakkaraja, Johanna O. Ferreira, Elizabeth J. Feuille, Jennifer A. Bassetti, Shipra M. Kaicker

29.04.2020 | Letter to Editor | Ausgabe 4/2020 Open Access

Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency

Lisa A. Kohn, Joseph D. Long, Edward C. Trope, Caroline Y. Kuo

08.05.2020 | Letter to Editor | Ausgabe 4/2020

Novel Pathogenic C2 Variant Associated with Disseminated GBS Infection

Emma C. Phillips, Monica Gupta, Rung-Chi Li, Julia K. Sohn, Monica G. Lawrence

11.05.2020 | Letter to Editor | Ausgabe 4/2020

A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection

Nesrine Radwan, Rasha El-Owaidy, Zeinab A. El-Sayed, Ashraf Abdel-Baky, Alaa El-Haddad, Hanaa Rashad, Eman Naguib Khorshed, Craig D. Platt, Jacqueline G. Wallace, Janet Chou, Elham Hossny, Shereen Medhat Reda

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