Blanca García-Solís, María Tapia-Torres, Ana García-Soidán, Elisa Hernández-Brito, María Teresa Martínez-Saavedra, José M Lorenzo Salazar, Sonia García-Hernández, Ana Van Den Rym, Karan Mayani Mayani, José Vicente Govantes-Rodríguez, Adrian Gervais, Paul Bastard, Anne Puel, Jean-Laurent Casanova, Carlos Flores, Rebeca Pérez de Diego, Carlos Rodríguez-Gallego
BACKGROUND: Monoallelic loss-of-function IKZF1 (IKAROS) variants cause B-cell deficiency or combined immunodeficiency, whereas monoallelic gain-of-function IKZF1 variants have recently been reported to cause hypergammaglobulinemia, abnormal plasma cell differentiation, autoimmune and allergic manifestations, and infections. METHODS: We studied seven relatives with autoimmune/inflammatory diseases and lymphoproliferative diseases. We analysed biopsy results and performed whole-exome sequencing and immunological studies...
April 3, 2024: Journal of Allergy and Clinical Immunology