Maria Chiriaco Gigliola Di Matteo Francesca Conti Davide Petricone Maia De Luca Silvia Di Cesare Cristina Cifaldi Rita De Vito Matteo Zoccolillo Jessica Serafinelli Noemi Poerio Maurizio Fraziano Immacolata Brigida Fabio Cardinale Paolo Rossi Alessandro Aiuti Caterina Cancrini Andrea Finocchi
10.3389/fimmu.2019.00130
Front Immunol
2019 Feb 14;10:130.
card9 myd88 ngs primary immune deficiency (pid) pyogenic infections
CC BY
https://pubmed.ncbi.nlm.nih.gov/30837984/
CARD Signaling Adaptor Proteins / genetics Dendritic Cells / physiology Epstein-Barr Virus Infections / genetics Herpesvirus 4, Human / physiology Immunoglobulin E / blood Macrophages / immunology Mutation / genetics Myeloid Differentiation Factor 88 / genetics Primary Immunodeficiency Diseases / genetics Viremia / genetics
CARD Signaling Adaptor Proteins / genetics Dendritic Cells / physiology Epstein-Barr Virus Infections / genetics Herpesvirus 4, Human / physiology Immunoglobulin E / blood Macrophages / immunology Mutation / genetics Myeloid Differentiation Factor 88 / genetics Primary Immunodeficiency Diseases / genetics Viremia / genetics Case Reports Research Support, Non-U.S. Gov't Child, Preschool Consanguinity Female High-Throughput Nucleotide Sequencing Homozygote Humans Pedigree CARD Signaling Adaptor Proteins CARD9 protein, human MYD88 protein, human Myeloid Differentiation Factor 88 Immunoglobulin E MYD88 Deficiency
PMC6383679
30837984
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia
2019