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New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy

2018; Elsevier BV; Volume: 141; Issue: 5 Linguagem: Inglês

10.1016/j.jaci.2017.12.995

1097-6825

María Bravo García‐Morato, Francisco Javier Aracil Santos, Alejandro C. Briones, Alfonso Blázquez Moreno, Ángela del Pozo Maté, Ángeles Domínguez‐Soto, Maria J. Merino, Lucía del Pino Molina, Juan Manuel Torres, Ana V. Marín, Elena Vallespín García, M. F. Prieto Rodríguez, Diego Plaza López Sabando, Anaïs Jiménez-Reinoso, Yasmina Mozo, Francisco José Sanz-Santaeufemia, R. de Lucas‐Laguna, Paula P. Cárdenas, Laura Polo, María Coronel Díaz, Mar Valés‐Gómez, Ernesto Roldán Santiago, A Cerdán, Julián Nevado Blanco, Ángel L. Corbí, Hugh T. Reyburn, José R. Regueiro, Eduardo López‐Granados, Rebeca Rodríguez Pena,

Tumors and Oncological Cases

Primary immunodeficiencies (PIDs) are a group of around 300 rare and usually monogenic disorders, mostly caused by point mutations.1 Uniparental disomy (UPD) is a condition in which both copies of a chromosome or chromosomal region are inherited from the same progenitor.2 Uniparental isodisomy (UPID) is a type of UPD caused by nondisjunction errors in one of the parental gametes in meiosis II. UPID can be pathogenic, either because of imprinting defects or inheritance of a recessive condition from a single carrier parent.