A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, characterised by a heterogeneous clinical spectrum including immunodeficiency, autoimmunity, and neuropsychiatric comorbidities.This systematic review critically appraises current evidence on autoimmunity in 22q11.2DS,fulfilling the need for an unbiased and comprehensive synthesis of current literature.A total of 82 peer-reviewed studies published since 1968 were included.Qualitative studies, abstracts, conference proceedings and non-English studies were excluded.An extensive search was conducted through PubMed, Web of Science, EMBASE, CINAHL, and the Cochrane Library using Boolean combinations of relevant keywords.There was substantial variation in study designs, underscoring the need for more standardized approaches and larger sample sizes.We identified a total of 40 distinct autoimmune conditions involving multiple organ systems.Haematological disorders were most frequently cited, followed by autoimmune thyroid diseases and systemic autoimmune diseases.Less common conditions included coeliac disease, psoriasis, vitiligo, alopecia areata, Raynaud's phenomenon, and vasculitis, while 19 diseases appeared only as single-case reports.Neuropsychiatric manifestations were addressed in just 24 studies.Our review confirms that autoimmunity is a complication of 22q11.2DSand highlights the need for epidemiological studies across organ-systems and inclusion of ethnically diverse populations.