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
10.3389/fimmu.2019.02471
Front Immunol
2019 Oct 30;10:2471.
il-7rα gene scid atypical onset maternal engraftment novel compound heterozygous mutations
CC BY
https://pubmed.ncbi.nlm.nih.gov/31736942/
Heterozygote Mutation Receptors, Interleukin-7 / genetics T-Lymphocytes / immunology T-Lymphocytes / metabolism Thrombocytopenia / diagnosis Thrombocytopenia / etiology
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
PMC6831519
31736942
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
2019