Literature DB >> 25843602

Signaling impairments in maternal T cells engrafted in an infant with a novel IL-2 receptor γ mutation.

Aaruni Khanolkar1, Jeffrey D Wilks2, Lawrence J Jennings3, Jessica L Davies2, Joshua A Zollett2, Loren L Lott2, Erin R Fullmer2, Nicolas E Bensen2, Katrin M Carlson-Leuer3, William T Tse4, Ramsay L Fuleihan5.   

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Year:  2015        PMID： 25843602     DOI： 10.1016/j.jaci.2015.02.012

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  3 in total

1.  A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.

Authors:  Aaruni Khanolkar; Jeffrey D Wilks; Guorong Liu; Bridget M Simpson; Edward A Caparelli; Dawn A Kirschmann; Jenna Bergerson; Ramsay L Fuleihan
Journal:  Immunol Res       Date:  2020-02       Impact factor: 2.829

2.  Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment.

Authors:  Paola Zangari; Cristina Cifaldi; Silvia Di Cesare; Gigliola Di Matteo; Maria Chiriaco; Donato Amodio; Nicola Cotugno; Maia De Luca; Cecilia Surace; Saverio Ladogana; Simone Gardini; Pietro Merli; Mattia Algeri; Paolo Rossi; Paolo Palma; Caterina Cancrini; Andrea Finocchi
Journal:  Front Immunol       Date:  2019-10-30       Impact factor: 7.561

Review 3.  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors:  Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal:  Genome Med       Date:  2022-02-28       Impact factor: 15.266
  3 in total

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