PMC Articles for MedGen (Select 331474) - PMC

Select item 110229291.

Defects in mucosal immunity and nasopharyngeal dysbiosis in HSC-transplanted SCID patients with IL2RG/JAK3 deficiency

Pedro Goncalves, Jean-Marc Doisne, Toshiki Eri, Bruno Charbit, Vincent Bondet, Celine Posseme, Alba Llibre, Armanda Casrouge, Christelle Lenoir, Bénédicte Neven, Darragh Duffy, Alain Fischer, James P. Di Santo, The Milieu Intérieur Consortium

Blood. 2022 Apr 28; 139(17): 2585–2600. Published online 2022 Feb 16. doi: 10.1182/blood.2021014654

PMCID:: PMC11022929

Article

Select item 78748392.

Whole‐exome sequencing of T^‐B⁺ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants

R. El Hawary, S. Meshaal, A.A. Mauracher, L. Opitz, D. Abd Elaziz, S. Lotfy, A. Eldash, J. Boutros, N. Galal, J. Pachlopnik Schmid, A. Elmarsafy

Clin Exp Immunol. 2021 Mar; 203(3): 448–457. Published online 2020 Nov 2. doi: 10.1111/cei.13536

PMCID:: PMC7874839

Article PDF–374K

Select item 63697083.

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

Jahnavi Aluri, Mukesh Desai, Maya Gupta, Aparna Dalvi, Antony Terance, Sergio D. Rosenzweig, Jennifer L. Stoddard, Julie E. Niemela, Vasundhara Tamankar, Snehal Mhatre, Umair Bargir, Manasi Kulkarni, Nitin Shah, Amita Aggarwal, Harsha Prasada Lashkari, Vidya Krishna, Geeta Govindaraj, Manas Kalra, Manisha Madkaikar

Front Immunol. 2019; 10: 23. Published online 2019 Feb 4. doi: 10.3389/fimmu.2019.00023

PMCID:: PMC6369708

Article PDF–277K

Select item 61607004.

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long‐known gene

Gigliola Di Matteo, Maria Chiriaco, Alessia Scarselli, Cristina Cifaldi, Susanna Livadiotti, Silvia Di Cesare, Valentina Ferradini, Alessandro Aiuti, Paolo Rossi, Andrea Finocchi, Caterina Cancrini

Mol Genet Genomic Med. 2018 Sep; 6(5): 713–721. Published online 2018 Jul 21. doi: 10.1002/mgg3.391

PMCID:: PMC6160700

Article PDF–1.4M

Select item 5085165.

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

N Sharfe, M Shahar, C M Roifman

J Clin Invest. 1997 Dec 15; 100(12): 3036–3043. doi: 10.1172/JCI119858

PMCID:: PMC508516

Summary PDF–524K

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