The 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.

An 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.

A 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.

Our 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.

22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive impairments and an increased risk of psychopathology. Most of the research has been conducted in children and adolescents, although the majority of affected individuals live well into adulthood. Hence, limited data are available on functional outcomes in adults.

To provide more insight in cognitive and adaptive abilities, and daily life functioning (marital status, living situation and work situation) in adults with 22q11.2DS.

This retrospective study included 250 Dutch-speaking adults (16–69 years) with 22q11.2DS from three sites in The Netherlands and Belgium. Data on full-scale IQ (FSIQ) scores (assessed with the Wechsler Adult Intelligence Scale), adaptive functioning (assessed with the Vineland Adaptive Behavior Scale II), and functional outcomes including marital status, living and work situation were systematically collected from clinical files. In addition, we examined predictors of adaptive functioning.

The majority of individuals in our adult sample demonstrated a low level of adaptive functioning (65%). In contrast to previous findings in children and adolescents, the majority functioned at an intellectual disability level (56%). Male sex, lower FSIQ and autism spectrum disorder were predictors of lower adaptive functioning (P = 0.016, P < 0.001 and P = 0.16, respectively).

These results suggest that low levels of cognitive and adaptive functioning are common in adults with 22q11.2DS. Future longitudinal and multicentre studies including older patients (>40 years) are needed to further investigate cognitive and adaptive trajectories and their interactions with physical and psychiatric comorbidities.