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Sharapova, Svetlana O.; Haapaniemi, Emma; Sakovich, Inga S.; Kostyuchenko, Larysa V.; Donkó, Agnes; Dulau-Florea, Alina; Malko, Oksana; Bondarenko, Anastasia V.; Stegantseva, Maria V.; Leto, Thomas L.; Uygun, Vedat; Karasu, Gulsun Tezcan; Holland, Steven M.; Hsu, Amy P.; Aleinikova, Olga V.
Clinical immunology (Orlando, Fla.), 08/2019, Letnik: 205Journal Article
Here we describe a 10-year-old girl with combined immunodeficiency presenting as recurring chest infections, lung disease and herpetic skin infections. The patient experienced two hematopoietic stem cell transplantations and despite full chimerism, she developed bone marrow aplasia due to adenovirus infection and died at post-transplant day 86. Immunologic investigation revealed low numbers of TRECs/KRECs, a severe reduction of memory B cells, absence of isohemagglutinins, and low IgG levels. Whole exome sequencing (WES) identified a novel heterozygous mutation in RAC2(c.275A > C, p.N92 T). Flow cytometric investigation of neutrophil migration demonstrated an absence of chemotaxis to fMLP. Cell lines transfected with RAC2 N92 T displayed characteristics of active GTP-bound RAC2 including enhanced NADPH oxidase-derived superoxide production both at rest and in response to PMA. Our findings broaden the clinical picture of RAC2 dysfunction, showing that some individuals can present with a combined immunodeficiency later in childhood rather than a congenital neutrophil disease. •We report a new case of heterozygous RAC2 deficiency, with the clinical presentation of recurrent respiratory infections, lung disease and susceptibility to varicella and herpetic infections.•Our report expands the phenotypic spectrum of RAC2 deficiency•Dominant activating mutations in RAC2 gene can lead to presentations of combined immunodeficiency where both myeloid and lymphoid lineages are affected
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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