FIGURE SUMMARY
Title

A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation

Authors
Lu, H.Y., Sertori, R., Contreras, A.V., Hamer, M., Messing, M., Del Bel, K.L., Lopez-Rangel, E., Chan, E.S., Rehmus, W., Milner, J.D., McNagny, K.M., Lehman, A., Wiest, D.L., Turvey, S.E.
Source
Full text @ Front Immunol
Figure 1

Patient phenotype and functional validation of a novel BCL11B variant. (A) Family pedigree. Arrow, proband. (B) Patient IgE at ages 8 and 11. (C) Patient eosinophil counts from ages 7 to 14. (B, C) Shaded region, reference range. (D) Patient brain magnetic resonance imaging. (E) Schematic of BCL11B protein. Red, substitution location. Asterisks, conservation. Black triangles, zinc coordinating residues. ZF, zinc finger. (F) Homology-based modeling of affected region. (G) Rescue of T-cell development visualized by lck probe post-bcl11ba knockdown with Bcl11b ATG mo and heat-inducible reexpression of WT (bottom left) or p.Cys826Tyr BCL11B (bottom right). Indicated are the number of individuals with observed phenotype.

PHENOTYPE:
Fish:
Knockdown Reagent:
Observed In:
Stage: Day 5
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Front Immunol
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