Works matching IS 02719142 AND DT 2020 AND VI 40 AND IP 2

Results: 20

Serum Anti-interferon-γ Autoantibody Titer as a Potential Biomarker of Disseminated Non-tuberculous Mycobacterial Infection.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 399, doi. 10.1007/s10875-020-00762-1

By:

Yoshizawa, Kazutaka;
Aoki, Ami;
Shima, Kenjiro;
Tanabe, Yoshinari;
Koya, Toshiyuki;
Hasegawa, Takashi;
Kikuchi, Toshiaki;
Sakagami, Takuro

Publication type:

Article

Human BCL10 Deficiency due to Homozygosity for a Rare Allele.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 388, doi. 10.1007/s10875-020-00760-3

By:

Van Den Rym, Ana;
Taur, Prasad;
Martinez-Barricarte, Rubén;
Lorenzo, Lazaro;
Puel, Anne;
Gonzalez-Navarro, Pablo;
Pandrowala, Ambreen;
Gowri, Vijaya;
Safa, Amin;
Toledano, Victor;
Cubillos-Zapata, Carolina;
López-Collazo, Eduardo;
Vela, Maria;
Pérez-Martínez, Antonio;
Sánchez-Ramón, Silvia;
Recio, Maria J.;
Casanova, Jean-Laurent;
Desai, Mukesh M.;
Perez de Diego, Rebeca

Publication type:

Article

Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome.

Published in:

2020

By:

Lévy, Romain;
Béziat, Vivien;
Barbieux, Claire;
Puel, Anne;
Bourrat, Emmanuelle;
Casanova, Jean-Laurent;
Hovnanian, Alain

Publication type:

Letter

E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 378, doi. 10.1007/s10875-020-00749-y

By:

Wang, Yanping;
Chen, Xuemei;
Yang, Qiuyun;
Tang, Wenjing;
Jia, Yanjun;
Zhou, Lina;
An, Yunfei;
Zhang, Zhiyong;
Tang, Xuemei;
Zhao, Xiaodong

Publication type:

Article

Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency.

Published in:

2020

By:

Siddiqi, Aminaa E.;
Liu, Anne Y.;
Charville, Gregory W.;
Kunder, Christian A.;
Uzel, Gulbu;
Sadighi Akha, Amir A.;
Oak, Jean;
Martin, Beth;
Sacha, Joshua;
Lewis, David B.;
Gernez, Yael

Publication type:

Letter

The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations.

Published in:

2020

By:

Hoyos-Bachiloglu, Rodrigo;
Concha, Sara;
Sepúlveda, Pablo;
Campos, Roberto;
Perez-Mateluna, Guillermo;
King, Alejandra;
Zuñiga, Pamela

Publication type:

Letter

Cytokine Autoantibodies Are Associated with Infection Risk and Self-Perceived Health: Results from the Danish Blood Donor Study.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 367, doi. 10.1007/s10875-020-00744-3

By:

von Stemann, Jakob H.;
Pedersen, Ole B.;
Hjalgrim, Henrik;
Erikstrup, Christian;
Ullum, Henrik;
Thørner, Lise W.;
Larsen, Margit AH.;
Burgdorf, Kristoffer S.;
Sørensen, Erik;
Hansen, Morten B.;
Ostrowski, Sisse R.

Publication type:

Article

RP-HPLC-ESI-IT Mass Spectrometry Reveals Significant Variations of the Human Salivary Protein Profile Associated with Predominantly Antibody Deficiencies.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 329, doi. 10.1007/s10875-020-00743-4

By:

Contini, Cristina;
Firinu, Davide;
Serrao, Simone;
Manconi, Barbara;
Olianas, Alessandra;
Cinetto, Francesco;
Cossu, Fausto;
Castagnola, Massimo;
Messana, Irene;
Del Giacco, Stefano;
Cabras, Tiziana

Publication type:

Article

ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 253, doi. 10.1007/s10875-019-00734-0

By:

Tanatar, Ayşe;
Karadağ, Şerife Gül;
Sözeri, Betül;
Sönmez, Hafize Emine;
Çakan, Mustafa;
Kendir Demirkol, Yasemin;
Aktay Ayaz, Nuray

Publication type:

Article

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 259, doi. 10.1007/s10875-019-00733-1

By:

Verhagen, Martijn V.;
Trevisan, Valentina;
Adu, John;
Owens, Catherine M.;
Booth, Claire;
Calder, Alistair

Publication type:

Article

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 321, doi. 10.1007/s10875-019-00739-9

By:

Scott, Ethan M.;
Chandra, Sharat;
Li, Jinzhu;
Robinette, Eric D.;
Brown, Miraides F.;
Wenger, Olivia K.

Publication type:

Article

Pulmonary Disease Burden in Primary Immune Deficiency Disorders: Data from USIDNET Registry.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 340, doi. 10.1007/s10875-019-00738-w

By:

Patrawala, Meera;
Cui, Ying;
Peng, Limin;
Fuleihan, Ramsay L.;
Garabedian, Elizabeth K.;
Patel, Kiran;
Guglani, Lokesh

Publication type:

Article

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 277, doi. 10.1007/s10875-019-00735-z

By:

Abolhassani, Hassan;
El-Sherbiny, Yasser M.;
Arumugakani, Gururaj;
Carter, Clive;
Richards, Stephen;
Lawless, Dylan;
Wood, Philip;
Buckland, Matthew;
Heydarzadeh, Marzieh;
Aghamohammadi, Asghar;
Hambleton, Sophie;
Hammarström, Lennart;
Burns, Siobhan O;
Doffinger, Rainer;
Savic, Sinisa

Publication type:

Article

Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 350, doi. 10.1007/s10875-020-00741-6

By:

Zhong, Linqing;
Wang, Jun;
Wang, Wei;
Wang, Lin;
Quan, Meiying;
Tang, Xiaoyan;
Gou, Lijuan;
Wei, Min;
Xiao, Juan;
Zhang, Tiannan;
Sui, Ruifang;
Zhou, Qing;
Song, Hongmei

Publication type:

Article

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 359, doi. 10.1007/s10875-019-00740-2

By:

Perez, Laura;
Messina, Fernando;
Negroni, Ricardo;
Arechavala, Alicia;
Bustamante, Jacinta;
Oleastro, Matías;
Migaud, Mélanie;
Casanova, Jean-Laurent;
Puel, Anne;
Santiso, Gabriela

Publication type:

Article

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 299, doi. 10.1007/s10875-019-00732-2

By:

Klinken, Elizabeth M.;
Gray, Paul E.;
Pillay, Bethany;
Worley, Lisa;
Edwards, Emily S. J.;
Payne, Kathryn;
Bennetts, Bruce;
Hung, Dorothy;
Wood, Ben A.;
Chan, Jonathan J.;
Marshall, Glenn M.;
Mitchell, Richard;
Uzel, Gulbu;
Ma, Cindy S.;
Tangye, Stuart G.;
McLean-Tooke, Andrew

Publication type:

Article

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 267, doi. 10.1007/s10875-019-00731-3

By:

Novice, Taylor;
Kariminia, Amina;
Del Bel, Kate L.;
Lu, Henry;
Sharma, Mehul;
Lim, Chinten J.;
Read, Jay;
Lugt, Mark Vander;
Hannibal, Mark C.;
O'Dwyer, David;
Hosler, Mirie;
Scharnitz, Thomas;
Rizzo, Jason M;
Zacur, Jennifer;
Priatel, John;
Abdossamadi, Sayeh;
Bohm, Alexandra;
Junker, Anne;
Turvey, Stuart E.;
Schultz, Kirk R.

Publication type:

Article

Use of FEF25–75% to Guide IgG Dosing to Protect Pulmonary Function in CVID.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 310, doi. 10.1007/s10875-019-00730-4

By:

Hwangpo, Tracy;
Wang, Zhixin;
Ghably, Jack;
Bhatt, Surya P.;
Cui, Xiangqin;
Schroeder, Harry W.

Publication type:

Article

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease.

Published in:

2020

By:

Shields, Adrian M.;
Bauman, Bradly M.;
Hargreaves, Chantal E.;
Pollard, Andrew J.;
Snow, Andrew L.;
Patel, Smita Y.

Publication type:

Letter

Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet).

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 289, doi. 10.1007/s10875-019-00725-1

By:

Pulvirenti, Federica;
Sangerardi, Maria;
Plebani, Alessandro;
Soresina, Annarosa;
Finocchi, Andrea;
Pignata, Claudio;
Cirillo, Emilia;
Trizzino, Antonino;
Aiuti, Alessandro;
Migliavacca, Maddalena;
Locatelli, Franco;
Bertaina, Alice;
Naviglio, Samuele;
Carrabba, Maria;
De Carli, Marco;
Barbaro, Maria Grazia Foschino;
Gattorno, Marco;
Quinti, Isabella;
Martire, Baldassarre

Publication type:

Article