Works matching IS 02719142 AND DT 2020 AND VI 40 AND IP 4

Results: 18

A New Patient with NOCARH Syndrome Due to CDC42 Defect.
Published in:
2020
By:
- He, Tingyan;
- Huang, Yanyan;
- Ling, Jiayun;
- Yang, Jun
Publication type:
Letter
The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.
Published in:
2020
By:
- Su, Helen C.;
- Orange, Jordan S.
Publication type:
Editorial
Novel Pathogenic C2 Variant Associated with Disseminated GBS Infection.
Published in:
2020
By:
- Phillips, Emma C.;
- Gupta, Monica;
- Li, Rung-Chi;
- Sohn, Julia K.;
- Lawrence, Monica G.
Publication type:
Letter
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection.
Published in:
2020
By:
- Radwan, Nesrine;
- El-Owaidy, Rasha;
- El-Sayed, Zeinab A.;
- Abdel-Baky, Ashraf;
- El-Haddad, Alaa;
- Rashad, Hanaa;
- Khorshed, Eman Naguib;
- Platt, Craig D.;
- Wallace, Jacqueline G.;
- Chou, Janet;
- Hossny, Elham;
- Reda, Shereen Medhat
Publication type:
Letter
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency.
Published in:
2020
By:
- Groth, Daniel J.;
- Lakkaraja, Madhavi M.;
- Ferreira, Johanna O.;
- Feuille, Elizabeth J.;
- Bassetti, Jennifer A.;
- Kaicker, Shipra M.
Publication type:
Letter
Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency.
Published in:
2020
By:
- Kohn, Lisa A.;
- Long, Joseph D.;
- Trope, Edward C.;
- Kuo, Caroline Y.
Publication type:
Letter
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 554, doi. 10.1007/s10875-020-00778-7
By:
- Verboon, Jeffrey M.;
- Mahmut, Dilnar;
- Kim, Ah Ram;
- Nakamura, Mitsutoshi;
- Abdulhay, Nour J.;
- Nandakumar, Satish K.;
- Gupta, Namrata;
- Akie, Thomas E.;
- Geddis, Amy E.;
- Manes, Becky;
- Kapp, Meghan E.;
- Hofmann, Inga;
- Gabriel, Stacey B.;
- Klein, Daryl E.;
- Williams, David A.;
- Frangoul, Haydar A.;
- Parkhurst, Susan M.;
- Crane, Genevieve M.;
- Cantor, Alan B.;
- Sankaran, Vijay G.
Publication type:
Article
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 610, doi. 10.1007/s10875-020-00777-8
By:
- Pajno, Roberta;
- Pacillo, Lucia;
- Recupero, Salvatore;
- Cicalese, Maria P.;
- Ferrua, Francesca;
- Barzaghi, Federica;
- Ricci, Silvia;
- Marzollo, Antonio;
- Pecorelli, Silvia;
- Azzari, Chiara;
- Finocchi, Andrea;
- Cancrini, Caterina;
- Di Matteo, Gigliola;
- Russo, Gianni;
- Alfano, Massimo;
- Lesma, Arianna;
- Salonia, Andrea;
- Adams, Stuart;
- Booth, Claire;
- Aiuti, Alessandro
Publication type:
Article
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation.
Published in:
2020
By:
- Moriya, Kunihiko;
- Kadowaki, Saori;
- Nakano, Tomohiro;
- Akarcan, Sanem E.;
- Kutukculer, Necil;
- Aksu, Guzide;
- Sasahara, Yoji;
- Kure, Shigeo;
- Ohnishi, Hidenori;
- Casanova, Jean-Laurent;
- Puel, Anne;
- Fukao, Toshiyuki
Publication type:
Correction Notice
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 602, doi. 10.1007/s10875-020-00775-w
By:
- Ridao-Manonellas, Saida;
- Fábregas-Bofill, Anna;
- Núñez-Rueda, Gloria;
- González-Amores, Míriam;
- García-Prat, Marina;
- López-Seguer, Laura;
- Rivière, Jacques G.;
- Martín-Nalda, Andrea;
- Mendoza-Palomar, Natalia;
- Melendo-Pérez, Susana;
- Soler-Palacín, Pere
Publication type:
Article
BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 625, doi. 10.1007/s10875-020-00774-x
By:
- Laberko, Alexandra;
- Yukhacheva, Daria;
- Rodina, Yulia;
- Abramov, Dmitriy;
- Konovalov, Dmitriy;
- Radygina, Svetlana;
- Shelikhova, Larisa;
- Pershin, Dmitry;
- Kadnikova, Olga;
- Maschan, Michael;
- Maschan, Alexei;
- Balashov, Dmitry;
- Shcherbina, Anna
Publication type:
Article
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 592, doi. 10.1007/s10875-020-00773-y
By:
- Shin, Junghee J.;
- Liauw, Daniel;
- Siddiqui, Sabrina;
- Lee, Juhyeon;
- Chung, Eun Jae;
- Steele, Ryan;
- Hsu, Florence Ida;
- Price, Christina;
- Kang, Insoo
Publication type:
Article
Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 619, doi. 10.1007/s10875-020-00772-z
By:
- Parta, Mark;
- Hilligoss, Dianne;
- Kelly, Corin;
- Kwatemaa, Nana;
- Theobald, Narda;
- Zerbe, Christa S.;
- Holland, Steven M.;
- Malech, Harry L.;
- Kang, Elizabeth M.
Publication type:
Article
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation.
Published in:
2020
By:
- Moriya, Kunihiko;
- Kadowaki, Saori;
- Nakano, Tomohiro;
- Akarcan, Sanem E.;
- Kutukculer, Necil;
- Aksu, Guzide;
- Sasahara, Yoji;
- Kure, Shigeo;
- Ohnishi, Hidenori;
- Casanova, Jean-Laurent;
- Puel, Anne;
- Fukao, Toshiyuki
Publication type:
Letter
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).
Published in:
2020
By:
- Ziaee, Vahid;
- Youssefian, Leila;
- Faghankhani, Masoomeh;
- Jazayeri, Ali;
- Saeidian, Amir Hossein;
- Vahidnezhad, Hassan;
- Uitto, Jouni
Publication type:
Letter
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.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 576, doi. 10.1007/s10875-020-00754-1
By:
- Brodszki, Nicholas;
- Frazer-Abel, Ashley;
- Grumach, Anete S.;
- Kirschfink, Michael;
- Litzman, Jiri;
- Perez, Elena;
- Seppänen, Mikko R. J.;
- Sullivan, Kathleen E.;
- Jolles, Stephen
Publication type:
Article
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
Published in:
2020
By:
- Bucciol, Giorgia;
- Pillay, Bethany;
- Casas-Martin, Jose;
- Delafontaine, Selket;
- Proesmans, Marijke;
- Lorent, Natalie;
- Coolen, Johan;
- Tousseyn, Thomas;
- Bossuyt, Xavier;
- Ma, Cindy S.;
- Schrijvers, Rik;
- Tangye, Stuart G.;
- Moens, Leen;
- Meyts, Isabelle
Publication type:
Letter
Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.
Published in:
2020
By:
- Liu, Ming;
- Lu, Bingtai;
- Zeng, Ping;
- Huang, Bing;
- Xu, Yanhui;
- Liang, Hanquan;
- Yang, Diyuan;
- Yang, Sida;
- Luo, Hai-bin;
- Lew, Andrew M.;
- Masters, Seth L.;
- Geng, Lanlan;
- Zeng, Huasong;
- Zhang, Yuxia
Publication type:
Letter