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Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities - a Case Report.

ABSTRACT: Herein we described a retrospective analysis of a 13-year-old female patient with facial dysmorphia and immune disorder caused by BCL11B gene mutation. The patient upon physical examination presented a particular face (thin eyebrows, small mandible, and widened eye distance), delayed language and motor development. Supplementary examination showed expansion of CD8+, absence of type 2 Innate Lymphoid Cells, increased IgG and altered distribution of T cells. Genetic testing revealed a heterozygous frameshift variation in exon 4 of the BCL11B gene; c.1887_c.1893delCGGCGGG (p.Gly630Glyfs*91). Finally, a BCL11B gene mutation could lead to abnormal development of the nervous and immune systems, therefore, it is necessary to consider this syndrome in patients with the clinical and immunological phenotype described below.

SUBMITTER: Roa-Bautista A

PROVIDER: S-EPMC9768616 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities - a Case Report.

Roa-Bautista Adriel A López-Duarte Mónica M Paz-Gandiaga Nerea N San Segundo Arribas David D Ocejo-Vinyals J Gonzalo JG

EJIFCC 20221212 4

Herein we described a retrospective analysis of a 13-year-old female patient with facial dysmorphia and immune disorder caused by BCL11B gene mutation. The patient upon physical examination presented a particular face (thin eyebrows, small mandible, and widened eye distance), delayed language and motor development. Supplementary examination showed expansion of CD8+, absence of type 2 Innate Lymphoid Cells, increased IgG and altered distribution of T cells. Genetic testing revealed a heterozygous ...[more]

PMID: 36605301

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