Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome

Yu, Hsin-Hui; Chien, Yin‐Hsiu; Lu, Meng‐Yao; Hu, Ya-Chiao; Lee, Jyh‐Hong; Wang, Li‐Chieh; Lin, Yu-Tsan; Yang, Yao‐Hsu; Chiang, Bor‐Luen

doi:10.1007/s10875-022-01340-3

Cited by 7 publications

(7 citation statements)

References 27 publications

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“…While Butcher et al 33 noted that standard Canadian clozapine blood monitoring practices sufficiently detected the occurrence of neutropenia in their study, this observation may not be generalizable given that hematological monitoring approaches differ between countries. 52 Whether or not 22q11.2 deletion syndrome represents a risk factor for the development of neutropenia in response to clozapine therapy remains unclear; while various immunological abnormalities have been described in 22q11.2 deletion syndrome (in particular, T-cell lymphopenia), 53 neutropenia is not a typical finding. Drawing definitive conclusions in this respect is difficult given the limited information provided in the referenced studies.…”

Section: Discussionmentioning

confidence: 99%

“…Whether or not 22q11.2 deletion syndrome represents a risk factor for the development of neutropenia in response to clozapine therapy remains unclear; while various immunological abnormalities have been described in 22q11.2 deletion syndrome (in particular, T-cell lymphopenia), 53 neutropenia is not a typical finding. Drawing definitive conclusions in this respect is difficult given the limited information provided in the referenced studies.…”

Section: Discussionmentioning

confidence: 99%

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Clozapine Use in 22q11.2 Deletion Syndrome

Colijn

2024

J Clin Psychopharmacol

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Background 22q11.2 deletion syndrome confers significant risk for the development of schizophrenia. While current recommendations regarding the management of psychotic symptoms in affected individuals are generally in keeping with treatment guidelines for general schizophrenia populations, evidence for the use of clozapine has come from case reports and retrospective observational data. As no reviews on the topic currently exist, a systematic review of clozapine use in 22q11.2 deletion syndrome was completed. Methods In November 2023, a literature search was completed using both PubMed and Scopus to identify English-language articles that reported the use of clozapine in humans with 22q11.2 deletion syndrome. Results Twenty-six articles describing 57 individuals were deemed eligible for inclusion. Most individuals had a diagnosis of treatment-resistant schizophrenia. Where reported, the mean or median dose of clozapine was relatively low, and the majority of individuals exhibited a good response (approximately 65.5% across individual case reports/series). While seizures were unsurprisingly the most commonly reported serious adverse effect, the majority of individuals were able to remain on (or be restarted on) clozapine by having their dose decreased and/or by adding an anticonvulsant (most commonly valproate). Conclusions This review reaffirms that individuals with 22q11.2 deletion syndrome may benefit from clozapine therapy even at a low dose, assuming they meet criteria for treatment-resistant schizophrenia and provided no contraindications exist. However, given the increased incidence of seizures in 22q11.2 deletion syndrome, the use of prophylactic anticonvulsant therapy should be considered, and hypoparathyroidism/hypocalcemia screened for and corrected before the initiation of clozapine. It is also recommended that clozapine blood levels be monitored.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clozapine Use in 22q11.2 Deletion Syndrome

Colijn

2024

J Clin Psychopharmacol

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“…In addition, IAA is frequently reported in patients with DiGeorge syndrome (approximately 50%), 46 in which prevalence of FTT reaching 58.6%. 47 Thus, the high prevalence of FTT in patients with IAA may be further exacerbated by the presence of DiGeorge syndrome. However, due to the limited data, our study refrained from drawing further conclusions, and the association among IAA, DiGeorge syndrome and FTT remained to be elucidated.…”

Section: Discussionmentioning

confidence: 99%

Failure to thrive in pediatric patients with congenital heart disease: a cross-sectional study of 13,256 patients

He,

Lin,

Zhou

et al. 2024

The Lancet Regional Health - Western Pacific

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“…Due to the absence of the parathyroid glands, up to 50–65% of patients may experience hypocalcemia manifesting with paresthesia, muscle spasms, cramps, tetany, circumoral numbness and seizures [ 40 ]. These symptoms represent red flags for the diagnosis of 22q11.2DS.…”

Section: Main Clinical Featuresmentioning

confidence: 99%

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

Cillo,

Coppola,

Habetswallner

et al. 2024

Genes

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Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients share a 3 Mb 22q11.2 region of hemizygous deletion in which 46 protein-coding genes are included. However, the hemizygosity of the genes of this region cannot fully explain the clinical phenotype and the phenotypic variability observed among patients. Additional mutations in genes located outside the deleted region, leading to “dual diagnosis”, have been described in 1% of patients. In some cases, the hemizygosity of the 22q11.2 region unmasks autosomal recessive conditions due to additional mutations on the non-deleted allele. Some of the deleted genes play a crucial role in gene expression regulation pathways, involving the whole genome. Typical miRNA expression patterns have been identified in 22q11.2DS, due to an alteration in miRNA biogenesis, affecting the expression of several target genes. Also, a methylation epi-signature in CpG islands differentiating patients from controls has been defined. Herein, we summarize the evidence on the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS. The review of the literature confirms the hypothesis that the 22q11.2DS phenotype results from a network of interactions between deleted protein-coding genes and altered epigenetic regulation.

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Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome

Cited by 7 publications

References 27 publications

Clozapine Use in 22q11.2 Deletion Syndrome

Clozapine Use in 22q11.2 Deletion Syndrome

Failure to thrive in pediatric patients with congenital heart disease: a cross-sectional study of 13,256 patients

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

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