article_metadata: 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
article_metadata: 10.3389/fimmu.2019.02471
article_metadata: Front Immunol
article_metadata: 2019 Oct 30;10:2471.
article_metadata: il-7rα gene scid atypical onset maternal engraftment novel compound heterozygous mutations
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31736942/
article_metadata: Heterozygote Mutation Receptors, Interleukin-7 / genetics T-Lymphocytes / immunology T-Lymphocytes / metabolism Thrombocytopenia / diagnosis Thrombocytopenia / etiology
article_metadata: Heterozygote Mutation Receptors, Interleukin-7 / genetics T-Lymphocytes / immunology T-Lymphocytes / metabolism Thrombocytopenia / diagnosis Thrombocytopenia / etiology Case Reports Research Support, Non-U.S. Gov't Biomarkers Female Humans Immunophenotyping Infant Lymphocyte Count Pedigree Phenotype Severe Combined Immunodeficiency / complications Severe Combined Immunodeficiency / diagnosis Severe Combined Immunodeficiency / genetics Thrombocytopenia / blood Biomarkers Receptors, Interleukin-7 interleukin-7 receptor, alpha chain
article_metadata: PMC6831519
article_metadata: 31736942
article_metadata: 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
article_metadata: 2019