A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency

Affiliations

¹ Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
² Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass.
³ Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy.
⁴ Institute for Molecular Medicine A. Nocivelli, Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
⁵ Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
⁶ Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School and Harvard Stem Cell Institute, Boston, Mass.
⁷ Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address: Raif.Geha@childrens.harvard.edu.

Case Reports

Vassilios Lougaris et al. J Allergy Clin Immunol. 2019 Apr.

. 2019 Apr;143(4):1649-1653.e3.

doi: 10.1016/j.jaci.2019.01.001. Epub 2019 Jan 14.

¹ Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
² Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass.
³ Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy.
⁴ Institute for Molecular Medicine A. Nocivelli, Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
⁵ Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
⁶ Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School and Harvard Stem Cell Institute, Boston, Mass.
⁷ Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address: Raif.Geha@childrens.harvard.edu.

No abstract available

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