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Case Reports
. 2013 Feb;131(2):594-7.e1-3.
doi: 10.1016/j.jaci.2012.10.062.

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

Darrell L Dinwiddie, Stephen F Kingsmore, Sonia Caracciolo, Giuseppe Rossi, Daniele Moratto, Cinzia Mazza, Cristiano Sabelli, Rosa Bacchetta, Laura Passerini, Chiara Magri, Callum J Bell, Neil A Miller, Shannon L Hateley, Carol J Saunders, Lu Zhang, Gary P Schroth, Sergio Barlati, Raffaele Badolato
Case Reports

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

Darrell L Dinwiddie et al. J Allergy Clin Immunol. 2013 Feb.
No abstract available

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Figures

Figure 1
Figure 1
(A)Family tree. The proband is indicated by arrow. (B) Scatter plot of absolute counts of T-, B- and NK- cells (◆ II-1, ● II-3, ■ II-4) compared to 20 age-matched HD (○)( mean±SD). (C)FOXP3 expression in CD4 of II-1 versus an healthy donor. (D)Capacity of CD4+CD25+ Treg from II-1 and II-4 to suppress autologous CD4+CD25- T cell response as inhibition percentage of 3H-thymidine incorporation (upper panel) and IFN-gamma production (lower panel).
See this image and copyright information in PMC

References

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