Works matching IS 02719142 AND DT 2023 AND VI 43 AND IP 2

Results: 26

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 247, doi. 10.1007/s10875-022-01418-y
By:
- Mustillo, Peter J.;
- Sullivan, Kathleen E.;
- Chinn, Ivan K.;
- Notarangelo, Luigi D.;
- Haddad, Elie;
- Davies, E. Graham;
- de la Morena, Maria Teresa;
- Hartog, Nicholas;
- Yu, Joyce E.;
- Hernandez-Trujillo, Vivian P.;
- Ip, Winnie;
- Franco, Jose;
- Gambineri, Eleonora;
- Hickey, Scott E.;
- Varga, Elizabeth;
- Markert, M. Louise
Publication type:
Article
B-cell Immunodeficiency in a Patient with Pearson Syndrome.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 335, doi. 10.1007/s10875-022-01406-2
By:
- Chen, Yu-Chia;
- Jou, Shiann-Tarng;
- Lee, Ni-Chung;
- Chiang, Bor-Luen;
- Yu, Hsin-Hui
Publication type:
Article
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 299, doi. 10.1007/s10875-022-01402-6
By:
- Milito, Cinzia;
- Cinetto, Francesco;
- Garzi, Giulia;
- Palladino, Andrea;
- Puca, Marco;
- Brambilla, Elena;
- De Vitis, Camilla;
- Costanzo, Giulia;
- Scarpa, Riccardo;
- Punziano, Alessandra;
- Lagnese, Gianluca;
- Del Giacco, Stefano;
- Spadaro, Giuseppe;
- Quinti, Isabella;
- Firinu, Davide
Publication type:
Article
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 331, doi. 10.1007/s10875-022-01400-8
By:
- Chougule, Akshaya;
- Taur, Prasad;
- Gowri, Vijaya;
- C. O. E. Consortium;
- Iyengar, Vaishnavi V.;
- Mudaliar, Sangeeta;
- Madkaikar, Manisha R.;
- Bodhanwala, Minnie;
- Desai, Mukesh M.
Publication type:
Article
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 479, doi. 10.1007/s10875-022-01399-y
By:
- Sheikh, Farrukh;
- Alajlan, Huda;
- Albanyan, Maram;
- Alruwaili, Hibah;
- Alawami, Fatimah;
- Sumayli, Safia;
- Al Gazlan, Sulaiman;
- Abu Awwad, Sawsan;
- Al-Dhekri, Hasan;
- Al-Saud, Bandar;
- Arnaout, Rand;
- Alrayes, Hassan;
- Sayes, Najla;
- Al-Hamed, Mohamed H.;
- Al-Mousa, Hamoud;
- AlShareef, Saad;
- Alazami, Anas M.
Publication type:
Article
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 485, doi. 10.1007/s10875-022-01398-z
By:
- Moundir, Abderrahmane;
- Ouair, Hind;
- Benhsaien, Ibtihal;
- Jeddane, Leila;
- Rada, Nouredine;
- Amenzoui, Naïma;
- Jouhadi, Zineb;
- Adnane, Fatima;
- Hafidi, Naïma El;
- Kili, Amina;
- Bourhanbour Drissi, Asmaa;
- Babakhouya, Abdeladim;
- Benmiloud, Sarra;
- Hbibi, Mohamed;
- Benajiba, Noufissa;
- Hida, Mustapha;
- Bouskraoui, Mohamed;
- Mahraoui, Chafiq;
- Admou, Brahim;
- Bakkouri, Jalila El
Publication type:
Article
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 440, doi. 10.1007/s10875-022-01389-0
By:
- Topal, Joseph;
- Panchal, Neelam;
- Barroeta, Amairelys;
- Roppelt, Anna;
- Mudde, Annelotte;
- Gaspar, H. Bobby;
- Thrasher, Adrian J.;
- Houghton, Benjamin C.;
- Booth, Claire
Publication type:
Article
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 512, doi. 10.1007/s10875-022-01395-2
By:
- Sacco, Keith;
- Kuehn, Hye Sun;
- Kawai, Tomoki;
- Alsaati, Nouf;
- Smith, Lauren;
- Davila, Blachy;
- Bundy, Vanessa;
- Kuhns, Douglas B.;
- Dobbs, Kerry;
- Delmonte, Ottavia;
- Notarangelo, Luigi D.;
- Rosenzweig, Sergio D.;
- Keller, Michael D.
Publication type:
Article
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 452, doi. 10.1007/s10875-022-01394-3
By:
- Al-Tamemi, Salem;
- Al-Zadjali, Shoaib;
- Bruwer, Zandre;
- Naseem, Shafiq-Ur-Rehman;
- Al-Siyabi, Nabila;
- ALRawahi, Mohammed;
- Alkharusi, Khalsa;
- Al-Thihli, Khalid;
- Al-Murshedi, Fathiya;
- AlSayegh, Abeer;
- Al-Maawali, Almundher;
- Dennison, David
Publication type:
Article
CD40LG Triplication Associates with Immune Dysregulation and Exhaustion.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 323, doi. 10.1007/s10875-022-01392-5
By:
- Santaniemi, Wenny;
- Pernaa, Nora;
- Glumoff, Virpi;
- Hautala, Timo;
- CD40L consortium;
- Åström, Pirjo;
- Kuismin, Outi
Publication type:
Article
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 421, doi. 10.1007/s10875-022-01390-7
By:
- Gottschalk, Ilona;
- Kölsch, Uwe;
- Wagner, Dimitrios L.;
- Kath, Jonas;
- Martini, Stefania;
- Krüger, Renate;
- Puel, Anne;
- Casanova, Jean-Laurent;
- Jezela-Stanek, Aleksandra;
- Rossi, Rainer;
- Chehadeh, Salima El;
- Van Esch, Hilde;
- von Bernuth, Horst
Publication type:
Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 466, doi. 10.1007/s10875-022-01396-1
By:
- Ono, Rintaro;
- Tsumura, Miyuki;
- Shima, Saho;
- Matsuda, Yusuke;
- Gotoh, Kenji;
- Miyata, Yurina;
- Yoto, Yuko;
- Tomomasa, Dan;
- Utsumi, Takanori;
- Ohnishi, Hidenori;
- Kato, Zenichiro;
- Ishiwada, Naruhiko;
- Ishikawa, Aki;
- Wada, Taizo;
- Uhara, Hisashi;
- Nishikomori, Ryuta;
- Hasegawa, Daisuke;
- Okada, Satoshi;
- Kanegane, Hirokazu
Publication type:
Article
Germline Variant Interpretation in Children with Severe Sepsis.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 312, doi. 10.1007/s10875-022-01388-1
By:
- Prince, Benjamin T.;
- Varga, Elizabeth A.;
- McBride, Kim L.
Publication type:
Article
Combination of WFDC2, CHI3L1, and KRT19 in Plasma Defines a Clinically Useful Molecular Phenotype Associated with Prognosis in Critically Ill COVID-19 Patients.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 286, doi. 10.1007/s10875-022-01386-3
By:
- Ebihara, Takeshi;
- Matsubara, Tsunehiro;
- Togami, Yuki;
- Matsumoto, Hisatake;
- Tachino, Jotaro;
- Matsuura, Hiroshi;
- Kojima, Takashi;
- Sugihara, Fuminori;
- Seno, Shigeto;
- Okuzaki, Daisuke;
- Hirata, Haruhiko;
- Ogura, Hiroshi
Publication type:
Article
Disseminated Acanthamoeba Infection in a Bone Marrow Transplant Recipient with CTLA-4 Haploinsufficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 319, doi. 10.1007/s10875-022-01385-4
By:
- Al Dhaheri, Fatima;
- Gunasekera, Nicole;
- Wardell, Hanna;
- Drobysheva, Anastasia;
- Hussain, Sadaf
Publication type:
Article
MAGT1 Gene Mutation is Associated with Myositis and CD127 Expression Downregulation.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 315, doi. 10.1007/s10875-022-01384-5
By:
- Chen, Sheng;
- Wang, Xuan;
- Sun, Chong;
- Zhao, Chong-Bo;
- Lin, Jie
Publication type:
Article
Functional STAT3 Deficiency from Co-Localization with SMAD2/3 Can Account for Infective Predisposition and Hyper IgE-like Manifestation in Loeys-Dietz Syndrome.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 327, doi. 10.1007/s10875-022-01383-6
By:
- Ravikumar, Sharada;
- Amali, Aseervatham Anusha;
- Capinpin, Sharah Mae;
- Ho, Han Kiat;
- Chai, Louis Yi Ann
Publication type:
Article
Serving Underserved Patients with Primary Immune Deficiency Disorders: A Pilot Educational Program for Clinical Fellows.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 308, doi. 10.1007/s10875-022-01377-4
By:
- Galant-Swafford, Jessica;
- George, Elizabeth;
- Meyer, Anna
Publication type:
Article
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 350, doi. 10.1007/s10875-022-01380-9
By:
- David, Odeya;
- Kristal, Eyal;
- Ling, Galina;
- Broides, Arnon;
- Hadad, Nurit;
- Shubinsky, George;
- Nahum, Amit
Publication type:
Article
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans — Balancing Natural Selection and Clinical Implications.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 495, doi. 10.1007/s10875-022-01366-7
By:
- Aschenbrenner, Dominik;
- Ye, Ziqing;
- Zhou, Ying;
- Hu, Wenhui;
- Brooks, Isabel;
- Williams, Isabelle;
- Capitani, Melania;
- Gartner, Lisa;
- Kotlarz, Daniel;
- Snapper, Scott B.;
- Klein, Christoph;
- Muise, Aleixo M.;
- Marsden, Brian D.;
- Huang, Ying;
- Uhlig, Holm H.
Publication type:
Article
CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 391, doi. 10.1007/s10875-022-01378-3
By:
- Block, Violeta;
- Sevdali, Eirini;
- Recher, Mike;
- Abolhassani, Hassan;
- Hammarstrom, Lennart;
- Smulski, Cristian R.;
- Baronio, Manuela;
- Plebani, Alessandro;
- Proietti, Michele;
- Speletas, Matthaios;
- Warnatz, Klaus;
- Voll, Reinhard E.;
- Lougaris, Vassilios;
- Schneider, Pascal;
- Eibel, Hermann
Publication type:
Article
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 271, doi. 10.1007/s10875-022-01382-7
By:
- Erra, Lorenzo;
- Uriarte, Ignacio;
- Colado, Ana;
- Paolini, María Virginia;
- Seminario, Gisela;
- Fernández, Julieta Belén;
- Tau, Lorena;
- Bernatowiez, Juliana;
- Moreira, Ileana;
- Vishnopolska, Sebastián;
- Rumbo, Martín;
- Cassarino, Chiara;
- Vijoditz, Gustavo;
- López, Ana Laura;
- Curciarello, Renata;
- Rodríguez, Diego;
- Rizzo, Gastón;
- Ferreyra, Malena;
- Ferreyra Mufarregue, Leila Romina;
- Badano, María Noel
Publication type:
Article
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 358, doi. 10.1007/s10875-022-01375-6
By:
- Tuovinen, Elina A.;
- Pöysti, Sakari;
- Hamdan, Firas;
- Le, Kim My;
- Keskitalo, Salla;
- Turunen, Tanja;
- Minier, Léa;
- Mamia, Nanni;
- Heiskanen, Kaarina;
- Varjosalo, Markku;
- Cerullo, Vincenzo;
- Kere, Juha;
- Seppänen, Mikko R. J.;
- Hänninen, Arno;
- Grönholm, Juha
Publication type:
Article
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 371, doi. 10.1007/s10875-022-01379-2
By:
- Strohmeier, Valentina;
- Andrieux, Geoffroy;
- Unger, Susanne;
- Pascual-Reguant, Anna;
- Klocperk, Adam;
- Seidl, Maximilian;
- Marques, Otavio Cabral;
- Eckert, Marleen;
- Gräwe, Katja;
- Shabani, Michelle;
- von Spee-Mayer, Caroline;
- Friedmann, David;
- Harder, Ina;
- Gutenberger, Sylvia;
- Keller, Baerbel;
- Proietti, Michele;
- Bulashevska, Alla;
- Grimbacher, Bodo;
- Provaznik, Jan;
- Benes, Vladimir
Publication type:
Article
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 338, doi. 10.1007/s10875-022-01364-9
By:
- Alabbas, Fahad;
- Alanzi, Talal;
- Alrasheed, Abdulrahman;
- Essa, Mohammed;
- Elyamany, Ghaleb;
- Asiri, Abdulrahman;
- Almutairi, Sajdi;
- Al-Mayouf, Sulaiman;
- Alenazi, Abdullatif;
- Alsafadi, Danyah;
- Ballourah, Walid;
- Albalawi, Naif;
- Hanafy, Ehab;
- Al-Hebshi, Abdulqader;
- Alrashidi, Seham;
- Albatniji, Fatma;
- Alfaraidi, Huda;
- Ali, Tahani Bin;
- Al Qwaiee, Mansour;
- AlHilali, Maryam
Publication type:
Article
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 406, doi. 10.1007/s10875-022-01376-5
By:
- Korol, Cecilia B.;
- Belkaya, Serkan;
- Alsohime, Fahad;
- Lorenzo, Lazaro;
- Boisson-Dupuis, Stéphanie;
- Brancale, Joseph;
- Neehus, Anna-Lena;
- Vilarinho, Silvia;
- Zobaida, Alsum;
- Halwani, Rabih;
- Al-Muhsen, Saleh;
- Casanova, Jean-Laurent;
- Jouanguy, Emmanuelle
Publication type:
Article