Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes

Huisman, Elise J.; Brooimans, A Rick; Mayer, Samone; Joosten, Marieke; Bont, Louis; Dekker, Marleen; Rammeloo, Elisabeth L M; Smiers, Frans J.; Hagen, P. Martin van; Zwaan, C. Michel; Haas, Masja de; Cnossen, Marjon H.; Dalm, Virgil A. S. H.

doi:10.1007/s10875-022-01303-8

Cited by 4 publications

(3 citation statements)

References 44 publications

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“…Установлено, что ген FLI-1 модулирует маргинальную зону и развитие фолликулярных В-клеток у мышей [27]. Ранее было показано, что пациенты с синдромом Якобсена нередко являются обладателями делеции гена FLI-1 [2,28,29,30]. Гаплонедостаточность гена FLI-1 была предложена как генетическое изменение, ответственное за дефекты иммунной системы при синдроме Якобсена.…”

Section: Discussionunclassified

“…В предыдущих исследованиях было показано, что снижение Т-лимфоцитов [28,32] и их функциональные дефекты [15,20] наблюдаются у большинства пациентов с нарушениями 11q, что нередко сопровождается повышенной чувствительностью к персистирующим герпесвирусам ЦМВ, HSV1, VZV, вирусам папилломы человека [34].…”

Section: Discussionunclassified

“…Другой пациент с гетерозиготной делецией TIRAP, FLI-1, NFRKB, THYN1 и SNX19 перенес тяжелую бактериальную инфекцию, имел преимущественно низкое количество переключенных В-клеток памяти [30]. Существует мнение, что клинические проявления иммунодефицита у пациентов с СЯ могут иметь различную степень выраженности, однако усугубляются с возрастом при отсутствии лечения [23,28,34,35].…”

Section: Discussionunclassified

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Jacobsen’s syndrome: case report

Barycheva,

Bachieva,

Koz’mova

2024

jour

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Introduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated, which leads to recurrent infectious complications. Presentation of a clinical case. The article presents a clinical case of a patient with a deletion of chromosome 11q and combined immunodeficiency. Our patient had recurrent infections, cytopenic syndrome, combined immunodeficiency, as well as other clinical manifestations of Jacobsen syndrome. In addition to a decrease in serum immunoglobulins, a deep deficiency of the T-cell link of immunity with a low content of T-lymphocytes, recent emigrants from the thymus, has been established. Conclusions. The peculiarity of the presented clinical case is that with a relatively small amount of deletion 11q, the child realized a complete clinical phenotype of the disease and a deep combined immunodeficiency. The article was written to improve doctors’ knowledge about this rare form of congenital immunodeficiency.

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Section: Discussionunclassified

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Jacobsen’s syndrome: case report

Barycheva,

Bachieva,

Koz’mova

2024

jour

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Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound

Chen,

Huang,

et al. 2024

Taiwanese Journal of Obstetrics and Gynecology

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Genetic etiology and phenotypic characteristics of fetuses with 11q deletion (11q23.3-q25) syndrome

Zhang,

Cong,

et al. 2024

Preprint

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Objective: To investigate the clinical phenotype, genetic etiology, and diagnosis of 11q deletion (11q-) syndrome. Methods: In this study, pregnant women were selected from prenatal testing in Longgang Maternal and Child Health Hospital of Shenzhen. After screening for prenatal serological analysis, noninvasive prenatal genetic testing screening (NIPS), chromosome karyotype analysis, and chromosome microarray analysis (CMA), 4 pregnant women diagnosed with 11q- syndrome were selected for retrospective analysis. Result: Pregnant women of advanced age and with a history of adverse pregnancy need to have regular monitoring of fetal development. When high-risk results are obtained in NIPS and serological analysis during prenatal check-ups, early interventional prenatal diagnosis and genetic counseling should be carried out under the guidance of clinicians. The results of SNP array analysis suggest a large fragment deletion in the long arm of chromosome 11, including the telomeric region. The results of chromosome karyotype analysis supplement and indicate the structural variation of balanced translocation in cases 1 and 4 and verify the pathogenic variation results of SNP array analysis. Ultrasound monitoring reveals that the fetus has cardiac abnormalities such as ventricular septal defect and single arterial trunk. The incomplete penetrance of congenital heart malformations may be caused by multigene regulation, epigenetics, and environmental factors that can suppress the expression of congenital heart malformations in fetuses with 11q- syndrome. Conclusion: The differences and severity of fetal phenotypes may depend on the types and quantities of functional genes contained in fragments of different sizes. Fetuses with 11q- syndrome have incomplete penetrance and variable expressivity. The combined use of SNP array analysis and chromosome karyotype analysis can clarify the variation source of fetuses with 11q- syndrome. Especially when one of the parents has a chromosomal reciprocal translocation, chromosome karyotype analysis can further clarify its genetic etiology. This is conducive to providing a theoretical basis for the genotype-phenotype correlation of 11q- syndrome.

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Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes

Cited by 4 publications

References 44 publications

Jacobsen’s syndrome: case report

Jacobsen’s syndrome: case report

Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound

Genetic etiology and phenotypic characteristics of fetuses with 11q deletion (11q23.3-q25) syndrome

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