Janet Chou, MD, Yousef R. Badran, MD, Christina S. K

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Presentation transcript:

A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T- cell function Janet Chou, MD, Yousef R. Badran, MD, Christina S.K. Yee, MD, PhD, Wayne Bainter, BA, Toshiro K. Ohsumi, PhD, Suleiman Al- Hammadi, MD, Sung-Yun Pai, MD, Stefan Feske, MD, Raif S. Geha, MD Journal of Allergy and Clinical Immunology Volume 136, Issue 2, Pages 479-482.e1 (August 2015) DOI: 10.1016/j.jaci.2015.03.050 Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Sanger sequencing and the effect of ORAI1H165Pfs on ORAI1 protein expression and Ca2+ flux. A, Sanger sequencing of the c.493_494insC mutation. B, Schematic of an ORAI1 monomer showing the patient's mutation in the protein's intracellular loop. C, Left: Immunoblot of Myc in lysates from HEK293T cells that were untransfected or transfected with a construct encoding either N-terminal Myc-tagged ORAI1 or N-terminal Myc-tagged ORAI1H165Pfs. The predicted molecular weight of ORAI1 is 33 kDa (Myc-ORAI1core), but glycosylation leads to multiple bands at approximately 37 kDa and approximately 50 kDa (Myc-ORAI1glc), as has been shown previously.8 Right: Immunoblot of ORAI1 in lysates from the patient's fibroblasts using an antibody to the protein's C-terminus. The nonspecific band (ns) at approximately 50 kDa using this C-terminal anti–ORAI1 antibody cannot represent glycosylated ORAI1 because no ORAI1 protein was detected in HEK293T cells transfected with N-terminal Myc-tagged ORAIH165Pfs. D, Flow-cytometric analysis of Ca2+ influx in fibroblasts from the patient, his affected sister, and a control after treatment with 4 μM of thapsigargin for 300 seconds, followed by the addition of 2 mM Ca2+. Journal of Allergy and Clinical Immunology 2015 136, 479-482.e1DOI: (10.1016/j.jaci.2015.03.050) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Family pedigree of the proband and his affected cousin. Journal of Allergy and Clinical Immunology 2015 136, 479-482.e1DOI: (10.1016/j.jaci.2015.03.050) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions