Ciano-Petersen, Nicolás LundahlHamad-Cueto, OmarDrissi-Reyes, HaniaDoña-Díaz, ÁlvaroGarcía-Martín, Guillermina2022-07-192022-07-192021-10-14Ciano-Petersen NL, Hamad-Cueto O, Drissi-Reyes H, Doña-Díaz Á, García-Martín G. Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome. Front Immunol. 2021 Oct 14;12:708625http://hdl.handle.net/10668/3804Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances. Despite humoral and cellular immunodeficiency are common in 22q11DS, it is associated with an increased prevalence of autoimmune disorders such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis, likely due to immune dysregulations associated with thymic abnormalities, which plays a major role in self-tolerance. We report an unique case of a 14-year-old girl with 22q11DS that presented with subacute psychotic symptoms, intolerance to antipsychotics, CSF pleocytosis, and EEG abnormalities, that was successfully treated with empiric immunotherapy after fulfilling criteria for probable seronegative autoimmune encephalitis and probable autoimmune psychosis. The autoimmune etiology of these clinical features of 22q11DS has never been postulated despite the predisposition of this syndrome to present autoimmune disorders. We suggest the systematic evaluation with serum and CSF neuronal antibodies, MRI, and EEG of patients with 22q11DS that develop subacute psychotic symptoms or rapidly progressive cognitive decline. Early immunomodulatory therapies should be carefully considered if criteria of probable autoimmune psychosis or possible autoimmune encephalitis are fulfilled, as it may prevent long-term disabilities. Further studies are required to assess the autoimmune origin of psychosis and cognitive impairment associated with 22q11DS.enAtribución 4.0 InternacionalAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Chromosome 22q112 deletion syndromePsychosisAutoimmune encephalitisAutoimmune psychosisCognitive impairmentSíndrome de DiGeorgeEnfermedades autoinmunesDisfunción cognitivaEncefalitisTrastornos psicóticosMedical Subject Headings::Persons::Persons::Age Groups::AdolescentMedical Subject Headings::Diseases::Immune System Diseases::Autoimmune DiseasesMedical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Chromosome Disorders::22q11 Deletion Syndrome::DiGeorge SyndromeMedical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::EncephalitisMedical Subject Headings::Check Tags::FemaleMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Immunologic FactorsMedical Subject Headings::Psychiatry and Psychology::Mental Disorders::Schizophrenia and Disorders with Psychotic Features::Psychotic DisordersMedical Subject Headings::Publication Type::Study Characteristics::Case Reportsresearch article34721378open access10.3389/fimmu.2021.7086251664-3224PMC8551914