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- W2914015936 abstract "Heterozygous gain-of-function mutations in phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene (PIK3CD), encoding the p110d subunit of phosphoinositide-3-kinase cause primary immunodeficiency with clinical manifestations of recurrent infections, lymphoproliferation, autoimmune cytopenias, and lymphoma. We present a patient with a de novo coding variant and unexpected phenotype. We report the clinical and immunologic phenotype of a patient with a novel de novo PIK3CD-coding mutation. Clinical, immunologic, and in vitro signaling analysis of PI3K function was compared to our larger PIK3CD mutation-positive cohort (n = 62 from 58 families). A 14-year-old female with history of severe atopy, recurrent infections, elevated IgE 49,789 IU/mL, and eosinophilia (4380/mm3), was diagnosed with granulomatosis with polyangiitis (GPA; ANCA negative, PR3 positive) involving her upper airway with nasal septal perforation and saddle nose deformity. Whole exome sequencing revealed a heterozygous, novel, de novo PIK3CD variant (c.1546G>A; p.E522K), in the helical domain. Significantly high baseline phosphorylation and stimulation-induced hyperactivation of AKTS473 and S6 in T and B cells, increased transitional and diminished class-switched B cells findings were similar to the rest of this cohort. Bone marrow biopsy ruled out an eosinophilic malignancy and revealed increased B cell precursors. Patient was started on a rapalog, to which she demonstrated clinical improvement. This initial report of GPA, significant atopy with associated eosinophilia and elevated IgE in a patient with a novel mutation in PIK3CD, expands the disease spectrum for this PIDD. It remains to be explored if this phenotype is mutation-specific. Our findings also suggest a potential role for PI3K in hypereosinophilic states." @default.
- W2914015936 created "2019-02-21" @default.
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- W2914015936 date "2019-02-01" @default.
- W2914015936 modified "2023-10-06" @default.
- W2914015936 title "Granulomatosis with Polyangiitis and Severe Systemic Eosinophilia Due to a Novel PIK3CD mutation" @default.
- W2914015936 doi "https://doi.org/10.1016/j.jaci.2018.12.958" @default.
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