Safety of Live Immunization in DiGeorge Syndrome: A Retrospective Single-Center Study in Korea, 2005–2021

Lim, Sung Min; Shin, Je Hee; Baek, Jee Yeon; Lee, Ji Young; Kang, Jong-Gu; Ahn, Jong Gyun

doi:10.3390/vaccines10122165

Cited by 2 publications

(2 citation statements)

References 23 publications

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“…However, many individuals with 22q11.2 DS with mild to moderate immunosuppression receive live viral MMR and varicella vaccines despite the known diagnosis and tolerate them well, without serious adverse effects [149,150]. Given the risk of natural infection, the benefits of protection following immunizations with live vaccines outweigh the risks of potential AEFLI.…”

Section: Therapeutic Approachmentioning

confidence: 99%

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Szczawińska-Popłonyk¹,

Schwartzmann

Chmara

et al. 2023

IJMS

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The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.

show abstract

Section: Therapeutic Approachmentioning

confidence: 99%

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Szczawińska-Popłonyk¹,

Schwartzmann

Chmara

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

“…However, many individuals with 22q11.2 DS with mild to moderate immunosuppression, receive live viral MMR and varicella vaccines despite the known diagnosis and tolerate them well without serious adverse effects [144,145]. Given the risk of natural infection, the benefits of protection following immunizations with live vaccines outweigh the risks of potential AEFLI.…”

Section: Therapeutic Approachmentioning

confidence: 99%

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical Approach

Szczawińska-Popłonyk¹,

Schwartzmann²,

Chmara³

et al. 2023

Preprint

View full text Add to dashboard Cite

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects, most frequently conotruncal cardiac anomalies, thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of the 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers, environmental factors as well as the impact of hemizygosity on the remaining allele contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.

show abstract

Safety of Live Immunization in DiGeorge Syndrome: A Retrospective Single-Center Study in Korea, 2005–2021

Cited by 2 publications

References 23 publications

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical Approach

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