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Combined immunodeficiency in a patient with c-Rel deficiency

Published byLars-Olof Nyberg Modified over 5 years ago

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Presentation on theme: "Combined immunodeficiency in a patient with c-Rel deficiency"— Presentation transcript:

1 Combined immunodeficiency in a patient with c-Rel deficiency
Sarah Beaussant-Cohen, MD, Faris Jaber, MD, Michel J. Massaad, PhD, Sabrina Weeks, BA, Jennifer Jones, BA, Mohammed F. Alosaimi, MD, Jacqueline Wallace, BSPH, Waleed Al-Herz, MD, Raif S. Geha, MD, Janet Chou, MD  Journal of Allergy and Clinical Immunology  Volume 144, Issue 2, Pages e4 (August 2019) DOI: /j.jaci Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 A, Representative electrophoresis (left) and densitometric quantification of REL cDNA from EBV-LCLs from control subjects and the patient. B, Schematic of REL cDNA and protein, with the patient's deleted nucleotides and residues in red. C, Representative immunoblot of c-Rel in lysates of PBMCs from the patient and control subjects. D, CD3+ T-cell proliferation to PHA, as measured by means of CellTrace Violet (CTV) dilution. E, IL-2 secretion from PBMCs from the patient and control subjects with or without PHA stimulation. F, CD3+ T-cell proliferation to PHA plus IL-2. G and H, Secretion of IFN-γ (Fig 1, G) and IL-23 (Fig 1, H) by PBMCs from the patient and control subjects cultured with the indicated stimuli. I and J, Secretion of IL-12 (Fig 1, I) and IL-8 (Fig 1, J) by EBV-LCLs from the patient and control subjects stimulated with phorbol 12, 13-dibutyrate stimulation. K, CD19+ B-cell proliferation to anti-CD40 plus IL-21. L, IL-21 secretion by PHA blasts from the patient or control subjects with or without PHA plus IL-23 stimulation. M, Schematic of the contribution of c-Rel to adaptive and innate immunity. *P < .05 and **P < .01. n.s., Not significant. Data in Fig 1, A, E, G–J, and L are pooled from 2 independent experiments; data in Fig 1, C, D, F, and K, are representative of 2 to 3 independent experiments. C, Control subjects; Pt, patient. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 Chromatograms of Sanger sequencing of the REL mutation in the patient, his parents, and his healthy brother. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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