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

Adriel Roa-Bautista; Mónica López-Duarte; Nerea Paz-Gandiaga; David San Segundo Arribas; J Gonzalo Ocejo-Vinyals

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

EJIFCC. 2022 Dec 12;33(4):325-333. eCollection 2022 Dec.

Authors

Adriel Roa-Bautista¹, Mónica López-Duarte², Nerea Paz-Gandiaga³, David San Segundo Arribas¹, J Gonzalo Ocejo-Vinyals¹

Affiliations

¹ Division of Immunology, Marques de Valdecilla University Hospital, University of Cantabria, IDIVAL, Santander, Cantabria, Spain.
² Division of Hematology, Marques de Valdecilla University Hospital, University of Cantabria, IDIVAL, Santander, Cantabria, Spain.
³ Division of Genetics, Marques de Valdecilla University Hospital, University of Cantabria, IDIVAL, Santander, Cantabria, Spain.

PMID: 36605301
PMCID: PMC9768616

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.

Keywords: BCL11B gene mutation; facial dysmorphia; immune disorder; type 2 innate lymphoid cells.

Publication types

Case Reports