Works matching IS 02719142 AND DT 2020 AND VI 40 AND IP 3

Results: 15

Lymphoproliferative Disease in CVID: a Report of Types and Frequencies from a US Patient Registry.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 524, doi. 10.1007/s10875-020-00769-8

By:

Yakaboski, Elizabeth;
Fuleihan, Ramsay L.;
Sullivan, Kathleen E.;
Cunningham-Rundles, Charlotte;
Feuille, Elizabeth

Publication type:

Article

Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP.

Published in:

2020

By:

Hosking, Laine M.;
Quach, Alex;
Slade, Charlotte A.;
Galea, Melanie A.;
Richards, Stephanie;
Choo, Sharon;
Ferrante, Antonio

Publication type:

Letter

Complement Activation in 22q11.2 Deletion Syndrome.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 515, doi. 10.1007/s10875-020-00766-x

By:

Grinde, Dina;
Øverland, Torstein;
Lima, Kari;
Schjalm, Camilla;
Mollnes, Tom Eirik;
Abrahamsen, Tore G.

Publication type:

Article

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection.

Published in:

2020

By:

Oksenhendler, Eric;
Spaan, András N.;
Neven, Bénédicte;
Stolzenberg, Marie-Claude;
Fusaro, Mathieu;
Casanova, Jean-Laurent;
Rieux-Laucat, Frédéric;
Boisson, Bertrand;
Magérus, Aude

Publication type:

Letter

Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 494, doi. 10.1007/s10875-020-00761-2

By:

Yaz, Ismail;
Ozbek, Begum;
Ng, Yuk Yin;
Cetinkaya, Pinar Gur;
Halacli, Sevil Oskay;
Tan, Cagman;
Kasikci, Merve;
Kosukcu, Can;
Tezcan, Ilhan;
Cagdas, Deniz

Publication type:

Article

Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 466, doi. 10.1007/s10875-020-00759-w

By:

Erman, Baran;
Fırtına, Sinem;
Aksoy, Başak Adaklı;
Aydogdu, Selime;
Genç, Gonca Erköse;
Doğan, Öner;
Bozkurt, Ceyhun;
Fışgın, Tunç;
Çipe, Funda Erol

Publication type:

Article

Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 456, doi. 10.1007/s10875-020-00757-y

By:

Gans, Melissa D.;
Gavrilova, Tatyana

Publication type:

Article

Cancer Tendency in a Patient with ZNF341 Deficiency.

Published in:

2020

By:

Cekic, Sukru;
Hartberger, Julia Maria;
Frey-Jakobs, Stefanie;
Huriyet, Huzeyfe;
Hortoglu, Melika Bektas;
Neubauer, Johanna Charlotte;
Karali, Yasin;
Abakay, Candan Demiroz;
Saraydaroglu, Ozlem;
Cavas, Tolga;
Grimbacher, Bodo;
Kilic, Sara Sebnem

Publication type:

Letter

A Prevalent CXCR3+ Phenotype of Circulating Follicular Helper T Cells Indicates Humoral Dysregulation in Children with Down Syndrome.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 447, doi. 10.1007/s10875-020-00755-0

By:

Ottaviano, Giorgio;
Gerosa, Jolanda;
Santini, Micaela;
De Leo, Pasqualina;
Vecchione, Andrea;
Jofra, Tatiana;
Trimarchi, Cristiana;
De Pellegrin, Maurizio;
Agosti, Massimo;
Aiuti, Alessandro;
Marinoni, Maddalena;
Cicalese, Maria Pia;
Fousteri, Georgia

Publication type:

Article

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 435, doi. 10.1007/s10875-020-00753-2

By:

Hujová, Pavla;
Souček, Přemysl;
Grodecká, Lucie;
Grombiříková, Hana;
Ravčuková, Barbora;
Kuklínek, Pavel;
Hakl, Roman;
Litzman, Jiří;
Freiberger, Tomáš

Publication type:

Article

Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency.

Published in:

2020

By:

Erman, Baran;
Fırtına, Sinem;
Fışgın, Tunc;
Bozkurt, Ceyhun;
Çipe, Funda Erol

Publication type:

Letter

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 475, doi. 10.1007/s10875-020-00750-5

By:

Blancas-Galicia, Lizbeth;
Santos-Chávez, Eros;
Deswarte, Caroline;
Mignac, Quentin;
Medina-Vera, Isabel;
León-Lara, Ximena;
Roynard, Manon;
Scheffler-Mendoza, Selma C;
Rioja-Valencia, Ricardo;
Alvirde-Ayala, Alexandra;
Lugo Reyes, Saul O;
Staines-Boone, Tamara;
García-Campos, Jorge;
Saucedo-Ramírez, Omar J;
Del-Río_Navarro, Blanca E;
Zamora-Chávez, Antonio;
López-Larios, Arturo;
García-Pavón-Osorio, Susana;
Melgoza-Arcos, Eugenia;
Canseco-Raymundo, María R

Publication type:

Article

X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis—a Case Report.

Published in:

2020

By:

Krishnan, V. P.;
Taur, Prasad;
Pandrowala, Ambreen;
Madkaikar, Manisha;
Desai, Mukesh

Publication type:

Letter

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 503, doi. 10.1007/s10875-020-00745-2

By:

Tuovinen, Elina A.;
Grönholm, Juha;
Öhman, Tiina;
Pöysti, Sakari;
Toivonen, Raine;
Kreutzman, Anna;
Heiskanen, Kaarina;
Trotta, Luca;
Toiviainen-Salo, Sanna;
Routes, John M.;
Verbsky, James;
Mustjoki, Satu;
Saarela, Janna;
Kere, Juha;
Varjosalo, Markku;
Hänninen, Arno;
Seppänen, Mikko R. J.

Publication type:

Article

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 421, doi. 10.1007/s10875-019-00728-y

By:

Heller, Stephanie;
Kölsch, Uwe;
Magg, Thomas;
Krüger, Renate;
Scheuern, Andrea;
Schneider, Holm;
Eichinger, Anna;
Wahn, Volker;
Unterwalder, Nadine;
Lorenz, Myriam;
Schwarz, Klaus;
Meisel, Christian;
Schulz, Ansgar;
Hauck, Fabian;
von Bernuth, Horst

Publication type:

Article