Inborn errors of immunity associated with characteristic phenotypes

Bardou, Maine Luellah Demaret; Henriques, Marina Teixeira; Grumach, Anete Sevciovic

doi:10.1016/j.jped.2020.10.015

Cited by 2 publications

(2 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The incidence of 22q11.2 DS has been estimated to range from 1:3000 [2] to 1:4000 live births [1], placing it among frequent syndromic diseases. However, the rate of its clinical suspicion is still challenging, and the process of establishing the definitive diagnosis is an odyssey [3] due to the remarkable heterogeneity of clinical phenotypic expressions and overlapping manifestations with other categories of syndromic disorders [4][5][6]. The disease entities, such as, but not limited to, coloboma-heart defects-choanal atresia-retardation of growth and development-ear anomalies (CHARGE) syndrome [7,8], cardio-facio-cutaneous (CFC) syndrome [9,10], and Takenouchi-Kosaki syndrome (TKS) [11,12], require special pediatrician awareness and multidisciplinary care, as their distinctive phenotypes are associated with immunodeficiencies.…”

Section: Introductionmentioning

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

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: Introductionmentioning

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

“…MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions, or products referred to in the content. remarkable heterogeneity of clinical phenotypic expressions and overlapping manifestations with other categories of syndromic disorders [4,5,6]. The disease entities, such as, but not limited to coloboma-heart defects-choanal atresia-retardation of growth and development-ear anomalies (CHARGE) syndrome [7,8], cardio-facio-cutaneous (CFC) syndrome [9,10], and Takenouchi-Kosaki syndrome (TKS) [11,12] require special pediatrician's awareness and multidisciplinary care as their distinctive phenotypes are associated with immunodeficiencies.…”

Section: Introductionmentioning

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

Inborn errors of immunity associated with characteristic phenotypes

Cited by 2 publications

References 37 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

Contact Info

Product

Resources

About