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Primary immunodeficiency disorder caused by phosphoinositide 3–kinase δ deficiency  Georgios Sogkas, MD, PhD, Mykola Fedchenko, MD, Akshay Dhingra, MSc,

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Presentation on theme: "Primary immunodeficiency disorder caused by phosphoinositide 3–kinase δ deficiency  Georgios Sogkas, MD, PhD, Mykola Fedchenko, MD, Akshay Dhingra, MSc,"— Presentation transcript:

1 Primary immunodeficiency disorder caused by phosphoinositide 3–kinase δ deficiency 
Georgios Sogkas, MD, PhD, Mykola Fedchenko, MD, Akshay Dhingra, MSc, Alexandra Jablonka, MD, Reinhold E. Schmidt, MD, Faranaz Atschekzei, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 142, Issue 5, Pages e2 (November 2018) DOI: /j.jaci Copyright © 2018 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 A, Segregation of PIK3CD (c.1653_1653delG) mutations in the patients' family. Pedigree and chromatograms are depicted. Yellow color indicates unaffected family members, and red color indicates affected family members. −, Deletion of G in position het., Heterozygous; hom., homozygous; WT, wild-type. B, Amino acid sequence encoded by mutated PIK3CD (V552Sfs*26) lacks the kinase domain. C, Sorted CD3+ T cells of the living patient (left panel) and a healthy blood donor (right panel) were stimulated with anti-CD3 for 10 minutes in the presence or absence of 0.1 μmol/L IC87114 or equal amount of carrier (dimethyl sulfoxide). Subsequently, cells were evaluated for Akt phosphorylation at the Ser473 residue with flow cytometry. D, Histologic findings of an ileocecal biopsy specimen from the living patient stained with hematoxylin and eosin. Right panel, Active chronic inflammation with lymphocytic and partly neutrophilic infiltrates and slight crypt hyperplasia (×10 magnification). Left panel, Higher magnification of the area indicated with an asterisk. Villous atrophy and mild lymphocytic infiltration of crypt epithelium is shown (×40 magnification). E, High-resolution computed tomography indicating peribronchial thickening in the absence of bronchiectasis (white arrows). Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2018 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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