Works matching IS 02719142 AND DT 2022 AND VI 42 AND IP 8

Results: 25

Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1778, doi. 10.1007/s10875-022-01339-w
By:
- Chen, Xuemei;
- Chen, Junjie;
- Chen, Ran;
- Mou, Huilin;
- Sun, Gan;
- Yang, Lu;
- Jia, Yanjun;
- Zhao, Qin;
- Wen, Wen;
- Zhou, Lina;
- Ding, Yuan;
- Tang, Xuemei;
- Yang, Jun;
- An, Yunfei;
- Zhao, Xiaodong
Publication type:
Article
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1766, doi. 10.1007/s10875-022-01346-x
By:
- Michniacki, Thomas F.;
- Walkovich, Kelly;
- DeMeyer, Lauren;
- Saad, Nadine;
- Hannibal, Mark;
- Basiaga, Matthew L.;
- Horst, Kelly K.;
- Mohan, Smriti;
- Chen, Liang;
- Brodeur, Kailey;
- Du, Yan;
- Frame, David;
- Ngo, Sandra;
- Simoneau, Jillian;
- Brown, Noah;
- Lee, Pui Y.
Publication type:
Article
High Inborn Errors of Immunity Risk in Patients with Granuloma.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1795, doi. 10.1007/s10875-022-01342-1
By:
- Süleyman, Merve;
- Serin, Oğuzhan;
- Koçali, Büşra;
- Orhan, Diclehan;
- Yalçın, Elmas Ebru;
- Özçelik, Uğur;
- Ceyhan, Mehmet;
- Kiper, Nural;
- Tezcan, İlhan;
- Dogru, Deniz;
- Çağdaş, Deniz
Publication type:
Article
Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte–Macrophage Colony-Stimulating Factor.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1730, doi. 10.1007/s10875-022-01341-2
By:
- Wang, Shang-Yu;
- Lo, Yu-Fang;
- Shih, Han-Po;
- Ho, Mao-Wang;
- Yeh, Chun-Fu;
- Peng, Jhan-Jie;
- Ting, He-Ting;
- Lin, Kuo-Hsi;
- Huang, Wen-Chi;
- Chen, Yi-Chun;
- Chiu, Yu-Hsin;
- Hsu, Chien-Wei;
- Tseng, Yu-Ting;
- Wang, Lih-Shinn;
- Lei, Wei-Yi;
- Lin, Chen-Yuan;
- Aoh, Yu;
- Chou, Chia-Huei;
- Wu, Tsai-Yi;
- Ding, Jing-Ya
Publication type:
Article
Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1721, doi. 10.1007/s10875-022-01340-3
By:
- Yu, Hsin-Hui;
- Chien, Yin-Hsiu;
- Lu, Meng-Yao;
- Hu, Ya-Chiao;
- Lee, Jyh-Hong;
- Wang, Li-Chieh;
- Lin, Yu-Tsan;
- Yang, Yao-Hsu;
- Chiang, Bor-Luen
Publication type:
Article
Anaphylaxis to SARS-CoV-2 Vaccines in the Setting of a Nationwide Passive Epidemiological Surveillance Program.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1593, doi. 10.1007/s10875-022-01350-1
By:
- Toledo-Salinas, Carla;
- Scheffler-Mendoza, Selma Cecilia;
- Castano-Jaramillo, Lina Maria;
- Ortega-Martell, José Antonio;
- Del Rio-Navarro, Blanca Estela;
- Santibáñez-Copado, Ana María;
- Díaz-Ortega, José Luis;
- Baptista-Rosas, Raúl;
- Sánchez-Novoa, Paulina;
- García-Grimshaw, Miguel;
- Valdés-Ferrer, Sergio Iván;
- Reyes-Terán, Gustavo;
- Mendoza-Hernández, David Alejandro
Publication type:
Article
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1742, doi. 10.1007/s10875-022-01338-x
By:
- Migliavacca, Maddalena;
- Basso Ricci, Luca;
- Farinelli, Giada;
- Calbi, Valeria;
- Tucci, Francesca;
- Barzaghi, Federica;
- Ferrua, Francesca;
- Cicalese, Maria Pia;
- Darin, Silvia;
- Barzaghi, Lina Raffaella;
- Giglio, Fabio;
- Peccatori, Jacopo;
- Fumagalli, Francesca;
- Nicoletti, Roberto;
- Giannelli, Stefania;
- Sartirana, Claudia;
- Bandiera, Alessandro;
- Esposito, Maria;
- Milani, Raffaella;
- Mazzi, Benedetta
Publication type:
Article
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1618, doi. 10.1007/s10875-022-01337-y
By:
- Sharafian, Samin;
- Jacomelli, Gabriella;
- Tamizifar, Banafshe;
- Shahrooei, Mohammad;
- Parvaneh, Nima
Publication type:
Article
First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1608, doi. 10.1007/s10875-022-01336-z
By:
- Oegema, Sanne;
- Henriet, Stefanie S. V.;
- van Aerde, Koen J.;
- Bredius, Robbert G. M.;
- Berghuis, Dagmar
Publication type:
Article
Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1622, doi. 10.1007/s10875-022-01329-y
By:
- Françoise, Ugo;
- Lafont, Emmanuel;
- Suarez, Felipe;
- Lanternier, Fanny;
- Lortholary, Olivier
Publication type:
Article
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1672, doi. 10.1007/s10875-022-01333-2
By:
- Yang, Lu;
- Liu, Ping;
- Du, Hongqiang;
- Chen, Ran;
- Zhou, Bo;
- Li, Yanan;
- Zhou, Lina;
- Wang, Xiangli;
- Liu, Cuihua;
- Ding, Yuan;
- Tang, Xuemei;
- Chen, Yongwen;
- An, Yunfei;
- Zhao, Xiaodong
Publication type:
Article
Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1604, doi. 10.1007/s10875-022-01332-3
By:
- Fitch, Taylor;
- Bleesing, Jack;
- Marsh, Rebecca A.;
- Chandra, Sharat
Publication type:
Article
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1614, doi. 10.1007/s10875-022-01331-4
By:
- Hui, Xiaoying;
- Yang, Jingmin;
- Zhang, Jing;
- Sun, Jinqiao;
- Wang, Xiaochuan
Publication type:
Article
Algerian Registry for Inborn Errors of Immunity in Children: Report of 887 Children (1985–2021).
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1660, doi. 10.1007/s10875-022-01330-5
By:
- Yagoubi, Abdelghani;
- Tahiat, Azzeddine;
- Touri, Nabila Souad;
- Ladj, Mohamed Samir;
- Drali, Ouardia;
- Belaid, Brahim;
- Mohand-Oussaid, Ayda;
- Dehimi, Abdelhak;
- Belbouab, Reda;
- Ferhani, Yacine;
- Melzi, Souhila;
- Guedouar, Assia;
- Hakem, Saliha;
- Khemici, Ouardia;
- Inouri, Yacine;
- Meddour, Yanis;
- Dib, Saadeddine;
- Mansouri, Zohra;
- Iddir, Samir;
- Boufersaoui, Abderrahmane
Publication type:
Article
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1696, doi. 10.1007/s10875-022-01335-0
By:
- Wakamatsu, Manabu;
- Kojima, Daiei;
- Muramatsu, Hideki;
- Okuno, Yusuke;
- Kataoka, Shinsuke;
- Nakamura, Fumiko;
- Sakai, Yoshimi;
- Tsuge, Ikuya;
- Ito, Tsuyoshi;
- Ueda, Kazuto;
- Saito, Akiko;
- Morihana, Eiji;
- Ito, Yasuhiko;
- Ohashi, Naoki;
- Tanaka, Makito;
- Tanaka, Taihei;
- Kojima, Seiji;
- Nakajima, Yoko;
- Ito, Tetsuya;
- Takahashi, Yoshiyuki
Publication type:
Article
HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1583, doi. 10.1007/s10875-022-01327-0
By:
- Cook, Sarah;
- Lenardo, Michael J.;
- Freeman, Alexandra F.
Publication type:
Article
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1653, doi. 10.1007/s10875-022-01323-4
By:
- Hiwarkar, Prashant;
- Bargir, Umair;
- Pandrowala, Ambreen;
- Bodhanwala, Minnie;
- Thakker, Naresh;
- Taur, Prasad;
- Madkaikar, Manisha;
- Desai, Mukesh
Publication type:
Article
Chronic Enteroviral Meningoencephalitis in a Patient with Good's Syndrome Treated with Pocapavir.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1611, doi. 10.1007/s10875-022-01321-6
By:
- Grammatikos, Alexandros;
- Bright, Philip;
- Pearson, Justin;
- Likeman, Marcus;
- Gompels, Mark
Publication type:
Article
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1638, doi. 10.1007/s10875-022-01320-7
By:
- Staels, Frederik;
- Lorenzetti, Flaminia;
- De Keukeleere, Kerstin;
- Willemsen, Mathijs;
- Gerbaux, Margaux;
- Neumann, Julika;
- Tousseyn, Thomas;
- Pasciuto, Emanuela;
- De Munter, Paul;
- Bossuyt, Xavier;
- Gijsbers, Rik;
- Liston, Adrian;
- Humblet-Baron, Stephanie;
- Schrijvers, Rik
Publication type:
Article
Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1626, doi. 10.1007/s10875-022-01319-0
By:
- Globig, Anna-Maria;
- Strohmeier, Valentina;
- Surabattula, Rambabu;
- Leeming, Diana J.;
- Karsdal, Morten A.;
- Heeg, Maximilian;
- Kindle, Gerhard;
- Goldacker, Sigune;
- von Spee-Mayer, Caroline;
- Proietti, Michele;
- Bausch, Birke;
- Bettinger, Dominik;
- Schultheiß, Michael;
- Thimme, Robert;
- Schuppan, Detlef;
- Warnatz, Klaus
Publication type:
Article
Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1600, doi. 10.1007/s10875-022-01316-3
By:
- Narahari, Prasanth G.;
- Gebbia, Jennifer;
- Alperstein, Warren;
- Kleiner, Gary;
- Gans, Melissa
Publication type:
Article
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1685, doi. 10.1007/s10875-022-01315-4
By:
- Zondag, Timo C. E.;
- Torralba-Raga, Lamberto;
- Van Laar, Jan A. M.;
- Hermans, Maud A. W.;
- Bouman, Arjen;
- Hollink, Iris H. I. M.;
- Van Hagen, P. Martin;
- Briggs, Deborah A.;
- Hume, Alistair N.;
- Bryceson, Yenan T.
Publication type:
Article
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1748, doi. 10.1007/s10875-022-01312-7
By:
- Geier, Christoph B.;
- Ellison, Maryssa;
- Cruz, Rachel;
- Pawar, Sumit;
- Leiss-Piller, Alexander;
- Zmajkovicova, Katarina;
- McNulty, Shannon M;
- Yilmaz, Melis;
- Evans 2nd, Martin Oman;
- Gordon, Sumai;
- Ujhazi, Boglarka;
- Wiest, Ivana;
- Abolhassani, Hassan;
- Aghamohammadi, Asghar;
- Barmettler, Sara;
- Bhar, Saleh;
- Bondarenko, Anastasia;
- Bolyard, Audrey Anna;
- Buchbinder, David;
- Cada, Michaela
Publication type:
Article
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies.
Published in:
2022
By:
- Barranca, Alexis;
- Jonca, Nathalie;
- Martin-Blondel, Audrey;
- Apoil, Pol-André;
- Mazereeuw-Hautier, Juliette
Publication type:
Correction Notice
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1708, doi. 10.1007/s10875-022-01302-9
By:
- Lyra, Paula T.;
- Souza, Edvaldo;
- Moura, Ana Carla A.;
- Matta, Marina C.;
- Torres, Leuridan C.;
- Coelho, Antonio Victor Campos;
- Rocha, Maria Ângela W.;
- Arraes, Luiz;
- Oliveira, João Bosco
Publication type:
Article