Combined immunodeficiency in a patient with c-Rel deficiency

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Presentation transcript:

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 606-608.e4 (August 2019) DOI: 10.1016/j.jaci.2019.05.003 Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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 2019 144, 606-608.e4DOI: (10.1016/j.jaci.2019.05.003) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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 2019 144, 606-608.e4DOI: (10.1016/j.jaci.2019.05.003) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions