Works matching IS 02719142 AND DT 2024 AND VI 44 AND IP 1

Results: 41

Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
Published in:
2024
By:
- Lanz, Anna-Lisa;
- Erdem, Serife;
- Ozcan, Alper;
- Ceylaner, Gulay;
- Cansever, Murat;
- Ceylaner, Serdar;
- Conca, Raffaele;
- Magg, Thomas;
- Acuto, Oreste;
- Latour, Sylvain;
- Klein, Christoph;
- Patiroglu, Turkan;
- Unal, Ekrem;
- Eken, Ahmet;
- Hauck, Fabian
Publication type:
Correction Notice
“The Regimental Pediatrician”: Driving in the Wilds.
Published in:
2024
By:
- Kostmann, Rolf
Publication type:
Editorial
Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01640-2
By:
- Soomann, Maarja;
- Prader, Seraina;
- Pinto Monteiro, Aline;
- Zeilhofer, Ulrike;
- Hauri-Hohl, Mathias;
- Güngör, Tayfun;
- Pachlopnik Schmid, Jana;
- Trück, Johannes;
- Felber, Matthias
Publication type:
Article
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01637-x
By:
- Li, Margaret W. Y.;
- Burnett, Leslie;
- Dai, Pei;
- Avery, Danielle T.;
- Noori, Tahereh;
- Voskoboinik, Ilia;
- Shah, Parth R.;
- Tatian, Artiene;
- Tangye, Stuart G.;
- Gray, Paul E.;
- Ma, Cindy S.
Publication type:
Article
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening.
Published in:
2024
By:
- Salou, Sarah;
- Voelkl, Simon;
- Keller, Baerbel;
- Ehl, Stephan;
- Naumann-Bartsch, Nora
Publication type:
Letter
IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01635-z
By:
- Gruber, Conor;
- Lee, Angelica;
- Buta, Sofija;
- Khattri, Saakshi;
- Gottlieb, Alice B.;
- Frost, Jacqueline M.;
- Bowcock, Anne M.;
- Ho, Hsi-en;
- Bogunovic, Dusan
Publication type:
Article
CXCL9 as a Reliable Biomarker for Discriminating Anti–IFN-γ-Autoantibody–Associated Lymphadenopathy that Mimics Lymphoma.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01643-z
By:
- Yuan, Chang-Tsu;
- Huang, Wan-Ting;
- Hsu, Chia-Lang;
- Wang, Hsuan;
- Pan, Yi-Hua;
- Wu, Un-In;
- Wang, Jann-Tay;
- Sheng, Wang-Huei;
- Chen, Yee-Chun;
- Chang, Shan-Chwen
Publication type:
Article
Unusual Manifestations of APECED.
Published in:
2024
By:
- Bosi, Isabelle;
- Wong, Wui-Kwan;
- Mohammad, Shekeeb;
- Britton, Philip;
- Hsu, Peter
Publication type:
Letter
Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01626-0
By:
- Berglund, Lucinda J.
Publication type:
Article
IL-4Rα Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT6.
Published in:
2024
By:
- Faguer, Stanislas;
- Delabesse, Eric;
- Paul, Carle;
- Pasquet, Marlène
Publication type:
Letter
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity.
Published in:
2024
By:
- Bonagura, Vincent R.;
- Casanova, Jean Laurent
Publication type:
Editorial
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01604-6
By:
- Franzblau, Lauren E.;
- Fuleihan, Ramsay L.;
- Cunningham-Rundles, Charlotte;
- Wysocki, Christian A.
Publication type:
Article
The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01603-7
By:
- Chen, Yin-Huai;
- van Zon, Sarah;
- Adams, Alex;
- Schmidt-Arras, Dirk;
- Laurence, Arian D. J.;
- Uhlig, Holm H.
Publication type:
Article
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI.
Published in:
2024
By:
- Bucciol, Giorgia;
- Ombrello, Amanda K.;
- Chambers, Eugene P.;
- Meyts, Isabelle
Publication type:
Letter
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01634-0
By:
- Staines-Boone, Aidé Tamara;
- Vignesh, Pandiarajan;
- Tsumura, Miyuki;
- de la Garza Fernández, Germán;
- Tyagi, Reva;
- Rawat, Amit;
- Das, Jhumki;
- Tomomasa, Dan;
- Asano, Takaki;
- Hijikata, Atsushi;
- Salazar-Gálvez, Yuridia;
- Kanegane, Hirokazu;
- Okada, Satoshi;
- Reyes, Saul O Lugo
Publication type:
Article
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01633-1
By:
- Banday, Aaqib Zaffar;
- Nisar, Rahila;
- Patra, Pratap Kumar;
- Kaur, Anit;
- Sadanand, Rohit;
- Chaudhry, Chakshu;
- Bukhari, Syed Tariq Ahmed;
- Banday, Saquib Zaffar;
- Bhattarai, Dharmagat;
- Notarangelo, Luigi D.
Publication type:
Article
A Phase 1 Open-Label Study to Assess the Tolerability, Safety, and Immunogenicity of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 20% in Healthy Adults.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01632-2
By:
- Nagy, Andras;
- Duff, Kimberly;
- Bauer, Alexander;
- Okonneh, Fred;
- Rondon, Juan Carlos;
- Yel, Leman;
- Li, Zhaoyang
Publication type:
Article
“The Regimental Pediatrician”: the Hungarian Professor.
Published in:
2024
By:
- Kostmann, Rolf
Publication type:
Editorial
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01630-4
By:
- Arts, Rob J. W.;
- van der Linden, Tristan J.;
- van der Made, Caspar I.;
- Hendriks, Marianne M. C.;
- van der Heijden, Wouter A.;
- de Mast, Quirijn;
- Schuurs-Hoeijmakers, Janneke H. M.;
- Simons, Annet;
- Spaan, András N.;
- Mulders-Manders, Catharina M.;
- van de Veerdonk, Frank L.
Publication type:
Article
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?
Published in:
2024
By:
- Miskinyte, Snaigune;
- Delage, Maïa;
- Join-Lambert, Olivier;
- Nassif, Aude;
- Hovnanian, Alain
Publication type:
Letter
Duplication of Exons 8–9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease.
Published in:
2024
By:
- Venancio Hernández, Marco Antonio;
- Sanchez Flores, Carlos;
- Jiménez Juárez, María;
- Chronic Granulomatous Disease Consortium;
- Espinosa Padilla, Sara;
- Condino Neto, Antonio;
- Blancas Galicia, Lizbeth
Publication type:
Letter
Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function.
Published in:
2024
By:
- Guess, Rachel;
- Harocopos, George;
- Bednarski, Jeffrey J.;
- Hassmann, Lynn M.;
- Bigley, Tarin M.
Publication type:
Letter
Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01621-5
By:
- Wouters, Flore;
- Bogie, Jeroen;
- Wullaert, Andy;
- van der Hilst, Jeroen
Publication type:
Article
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01620-6
By:
- Bilgic Eltan, Sevgi;
- Nain, Ercan;
- Catak, Mehmet Cihangir;
- Ezen, Ege;
- Sefer, Asena Pınar;
- Karimi, Nastaran;
- Kiykim, Ayca;
- Kolukisa, Burcu;
- Baser, Dilek;
- Bulutoglu, Alper;
- Kasap, Nurhan;
- Yorgun Altunbas, Melek;
- Yalcin Gungoren, Ezgi;
- Kendir Demirkol, Yasemin;
- Kutlug, Seyhan;
- Hancioglu, Gonca;
- Dilek, Fatih;
- Yildiran, Alisan;
- Ozen, Ahmet;
- Karakoc-Aydiner, Elif
Publication type:
Article
Inherited Human BCL10 Deficiencies.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01619-z
By:
- Alsaidalani, Ashwag A.;
- García-Solís, Blanca;
- Bukhari, Esraa;
- Van Den Rym, Ana;
- López-Collazo, Eduardo;
- Sánchez-Ramón, Silvia;
- Corvillo, Fernando;
- López-Lera, Alberto;
- de Andrés, Ana;
- Martínez-Barricarte, Rubén;
- Perez de Diego, Rebeca
Publication type:
Article
Plasma Levels of mir-34a-5p Correlate with Systemic Inflammation and Low Naïve CD4 T Cells in Common Variable Immunodeficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01618-0
By:
- Nyström, Sofia;
- Hultberg, Jonas;
- Blixt, Emelie;
- Nilsdotter-Augustinsson, Åsa;
- Larsson, Marie
Publication type:
Article
Impact of Exposure to Vaccination and Infection on Cellular and Antibody Response to SARS-CoV-2 in CVID Patients Through COVID-19 Pandemic.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01616-2
By:
- Costanzo, Giulia Anna Maria Luigia;
- Deiana, Carla Maria;
- Sanna, Giuseppina;
- Perra, Andrea;
- Campagna, Marcello;
- Ledda, Andrea Giovanni;
- Coghe, Ferdinando;
- Palmas, Vanessa;
- Cappai, Riccardo;
- Manzin, Aldo;
- Chessa, Luchino;
- Del Giacco, Stefano;
- Firinu, Davide
Publication type:
Article
Prevalence and Characteristics of Non-tuberculous Mycobacteria (NTM) Infection in Recipients of Allogeneic Hematopoietic Stem Cell Transplantation: a Systematic Review and Meta-analysis.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01615-3
By:
- Cinicola, Bianca Laura;
- Ottaviano, Giorgio;
- Hashim, Ilie Fadzilah;
- Zainudeen, Zarina Thasneem;
- Hamid, Intan Juliana Abd;
- Elfeky, Reem
Publication type:
Article
Isolated Full Donor T-Cell Chimerism After Haploidentical TCRαβ/CD19 Depleted HSCT Maintains Remission of Familial HLH.
Published in:
2024
By:
- Consonni, Filippo;
- Coniglio, Maria Luisa;
- Florence HLH consortium;
- Martini, Beatrice;
- Santoro, Rosalba;
- Chinnici, Aurora;
- Beneforti, Linda;
- Allegro, Elisa;
- Bambi, Franco;
- Brugnolo, Francesca;
- Cuzzubbo, Daniela;
- Ermini, Stefano;
- Frenos, Stefano;
- Pegoraro, Francesco;
- Sanvito, Maria Chiara;
- Tintori, Veronica;
- Trambusti, Irene;
- Favre, Claudio;
- Sieni, Elena;
- Gambineri, Eleonora
Publication type:
Letter
Four-Year-History of Recurrent Fever, Skin Lesions, and Liver Abscesses in a Patient with Common Variable Immune Deficiency due to Helicobacter cinaedi Infection.
Published in:
2024
By:
- Rotella, Karina;
- Schiano, Thomas D.;
- Fiel, Maria Isabel;
- Ho, Hsi-en;
- Cunningham-Rundles, Charlotte
Publication type:
Letter
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
Published in:
2024
By:
- Sakovich, Inga S.;
- Haapaniemi, Emma;
- PID_team_Belarus;
- Aleshkevich, Svetlana N.;
- Pakhomava, Iryna V.;
- Belobokova, Victoria D.;
- Poliakova, Ekaterina A.;
- Volodashchik, Tatiana P.;
- Migas, Alexandr A.;
- Kupchinskaya, Aleksandra N.;
- Mikhaleuskaya, Taisiya M.;
- Belevtsev, Mikhail V.;
- Proleskovskaya, Inna V.;
- Demidchik, Valeria;
- Saarela, Janna;
- Sharapova, Svetlana O.
Publication type:
Letter
Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01608-2
By:
- Benavides, Nathalia;
- White, Jason C.;
- Sanmillan, Maria L.;
- Thomas, Morgan;
- Le, Trong;
- Caywood, Emi;
- Giraudo, Claudio G.
Publication type:
Article
Chest Computed Tomography Characteristics of Critically Ill COVID-19 Patients with Auto-antibodies Against Type I Interferons.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01606-4
By:
- Lafont Rapnouil, Baptiste;
- Zaarour, Youssef;
- Arrestier, Romain;
- Bastard, Paul;
- Peiffer, Bastien;
- Moncomble, Elsa;
- Parfait, Mélodie;
- Bellaïche, Raphaël;
- Casanova, Jean-Laurent;
- Mekontso Dessap, Armand;
- Mule, Sébastien;
- de Prost, Nicolas
Publication type:
Article
Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01605-5
By:
- Alemayehu, Tinsae;
- Asfaw, Yemisrach Mekonnen;
- Weldetsadik, Abate Yeshidinber
Publication type:
Article
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01601-9
By:
- Noma, Kosuke;
- Tsumura, Miyuki;
- Nguyen, Tina;
- Asano, Takaki;
- Sakura, Fumiaki;
- Tamaura, Moe;
- Imanaka, Yusuke;
- Mizoguchi, Yoko;
- Karakawa, Shuhei;
- Hayakawa, Seiichi;
- Shoji, Takayo;
- Hosokawa, Junichi;
- Izawa, Kazushi;
- Ling, Yun;
- Casanova, Jean-Laurent;
- Puel, Anne;
- Tangye, Stuart G.;
- Ma, Cindy S.;
- Ohara, Osamu;
- Okada, Satoshi
Publication type:
Article
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01629-x
By:
- Lévy, Romain;
- Escudier, Agathe;
- Bastard, Paul;
- Briand, Coralie;
- Polivka, Laura;
- Stoupa, Athanasia;
- Talbotec, Cécile;
- Rothenbuhler, Anya;
- Charbit, Marina;
- Debray, Dominique;
- Bodemer, Christine;
- Casanova, Jean-Laurent;
- Linglart, Agnès;
- Neven, Bénédicte
Publication type:
Article
“The Regimental Pediatrician”: “Dog March” with the Ranger Battalion.
Published in:
2024
By:
- Kostmann, Rolf
Publication type:
Editorial
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01614-4
By:
- Keller, Baerbel;
- Kfir-Erenfeld, Shlomit;
- Matusewicz, Paul;
- Hartl, Frederike;
- Lev, Atar;
- Lee, Yu Nee;
- Simon, Amos J.;
- Stauber, Tali;
- Elpeleg, Orly;
- Somech, Raz;
- Stepensky, Polina;
- Minguet, Susana;
- Schraven, Burkhart;
- Warnatz, Klaus
Publication type:
Article
Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01617-1
By:
- César, Thibaut;
- Le, Minh P.;
- Klifa, Roman;
- Castelle, Martin;
- Fournier, Benjamin;
- Lévy, Romain;
- Chbihi, Marwa;
- Courteille, Virginie;
- Moshous, Despina;
- Blanche, Stéphane;
- Alligon, Mickaël;
- Leruez-Ville, Marianne;
- Peytavin, Gilles;
- Frange, Pierre;
- Neven, Bénédicte
Publication type:
Article
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01627-z
By:
- Riestra, Maria Rodrigo;
- Pillay, Bethany A.;
- Willemsen, Mathijs;
- Kienapfel, Verena;
- Ehlers, Lisa;
- Delafontaine, Selket;
- Pinton, Antoine;
- Wouters, Marjon;
- Hombrouck, Anneleen;
- Sauer, Kate;
- Bossuyt, Xavier;
- Voet, Arnout;
- Soenen, Stefaan J.;
- Conde, Cecilia Dominguez;
- Bucciol, Giorgia;
- Boztug, Kaan;
- Humblet-Baron, Stephanie;
- Touzart, Aurore;
- Rieux-Laucat, Frédéric;
- Notarangelo, Luigi D.
Publication type:
Article
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01602-8
By:
- Lanz, Anna-Lisa;
- Erdem, Serife;
- Ozcan, Alper;
- Ceylaner, Gulay;
- Cansever, Murat;
- Ceylaner, Serdar;
- Conca, Raffaele;
- Magg, Thomas;
- Acuto, Oreste;
- Latour, Sylvain;
- Klein, Christoph;
- Patiroglu, Turkan;
- Unal, Ekrem;
- Eken, Ahmet;
- Hauck, Fabian
Publication type:
Article