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Case Reports
. 2015 May;135(5):1380-4.e1-5.
doi: 10.1016/j.jaci.2014.10.039. Epub 2014 Dec 12.

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

Omar K Alkhairy  1 , Nima Rezaei  2 , Robert R Graham  3 , Hassan Abolhassani  4 , Stephan Borte  5 , Kjell Hultenby  6 , Chenglin Wu  7 , Asghar Aghamohammadi  8 , David A Williams  9 , Timothy W Behrens  3 , Lennart Hammarström  7 , Qiang Pan-Hammarström  10
Affiliations
Case Reports

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

Omar K Alkhairy et al. J Allergy Clin Immunol. 2015 May.

Abstract

We report the first patients with a homozygous loss of function mutation in the RAC2 gene, presenting with clinical features of common variable immunodeficiency. In addition, the patients suffered from glomerulonephritis, coagulopathy, multiple hormone deficiencies potentially on the autoimmune basis and abnormalities of neutrophil granules.

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Figures

Figure 1
Figure 1
a) Family pedigree (solid fill, homozygous; half fill, heterozygous carrier). The proband is indicated by an arrow. The father's sample was not available (NA). b) Sequence analysis of the RAC2 gene. c) Detection of RAC2 expression by Western blot analysis. Control, fibroblast cells without transfection.
Figure 2
Figure 2
TEM images of neutrophils. a) proband: cytoplasmic inclusions (arrow). b) control, normal ultrastructure. c) proband: fewer cytoplasmic granules, with most secondary granules displaying an elongated or collapsed shape (arrow). d) control: normal, rounded secondary granules (arrow). e) proband: cytoplasmic inclusion, showing dense multi membrane layered structure (arrow) surrounded by a double membrane (arrowhead). f) control: normal ultrastructure.
See this image and copyright information in PMC

References

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