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

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

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

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

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