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A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome
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DOI：10.1017/erm.2026.10031.png)
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Abstract
En 中文
BackgroundThe 22q11.2 Deletion Syndrome (22q11DS) 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 22q11DS; fulfilling the need for an unbiased and comprehensive synthesis of the current literature.MethodsAn extensive search was conducted through PubMed; Web of Science; EMBASE; CINAHL; and the Cochrane Library using Boolean combinations of relevant keywords. Qualitative studies; abstracts; conference proceedings and non-English studies were excluded.ResultsA total of 82 peer-reviewed studies published since 1968 were identified. 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 24 studies.ConclusionOur review confirms that autoimmunity is a complication of 22q11DS and highlights the need for epidemiological studies across organ-systems and inclusion of ethnically diverse populations. There was substantial variation in study designs; underscoring the need for more standardised approaches and larger sample sizes.
Keywords:
22q.11DS
22q11.2DS
autoimmune
autoimmune thyroid disease
autoimmunity
DiGeorge
DiGeorge syndrome
systematic review
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