Presentation is loading. Please wait.

Presentation is loading. Please wait.

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency  Heidi Schaballie, MD, Rémy Rodriguez, MS, Emmanuel Martin, PhD, Leen Moens,

Published byOlaf Jakobsen Modified over 5 years ago

Similar presentations

Presentation on theme: "A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency  Heidi Schaballie, MD, Rémy Rodriguez, MS, Emmanuel Martin, PhD, Leen Moens,"— Presentation transcript:

1 A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency 
Heidi Schaballie, MD, Rémy Rodriguez, MS, Emmanuel Martin, PhD, Leen Moens, PhD, Glynis Frans, MPharm, Christelle Lenoir, MS, Joris Dutré, MD, Danielle Canioni, MD, PhD, Xavier Bossuyt, MD, PhD, Alain Fischer, MD, PhD, Sylvain Latour, PhD, Isabelle Meyts, MD, PhD, Capucine Picard, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 136, Issue 3, Pages e4 (September 2015) DOI: /j.jaci Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Strongly reduced store-operated calcium entry with residual STIM1 protein expression. A, Ca2+ flux in PBMCs and PHA-induced T-cell blasts from patient 7 (P7), patient 8 (P8), the mother, the father, and a healthy control in response to stimulation with anti-CD3 and antimouse IgG crosslinker (F(ab)2). B, Western blot analysis of lysates from T blasts, a healthy control, patient 8, patient 7, and the heterozygous mother incubated with anti-STIM1 and antiactin antibodies. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Partially impaired T-cell proliferation in patients with STIM1 deficiency. CFSE proliferation assay using PBMCs from a healthy donor, patient 7 (P7), and patient 8 (P8) after stimulation with PHA, anti-CD3, anti-CD3 + IL-2, and PMA + ionomycin for 4 and 6 days. The histograms are gated on CD3+CD4+ cells and CD3+CD8+ cells. CFSE, Carboxyfluorescein succinimidyl ester; PMA, phorbol 12-myristate 13-acetate. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E1 STIM1 deficiency caused by a novel homozygous missense mutation c.494C>A. A, Enamel hypoplasia in patient 8 (P8). B, Sanger sequencing of genomic STIM1 DNA revealed the mutation c.494C>A, homozygous in patient 7 (P7) and P8, heterozygous in the mother. C, The pedigree of the index patient (P7) and his affected sister (P8). The STIM1 genotypes of patients and family members are listed under their symbols. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E2 Impaired NK-cell degranulation due to STIM1 mutation. A, CD107a expression in PBMCs from a healthy donor (HD) and patient 7 (P7) and patient 8 (P8) with STIM1 deficiency, stimulated with K562 cells for 23 hours at 37°C. CD56 is plotted against CD107a in CD3(−)CD56(+) cells. B, CD107a expression in CD3(−)CD56(+) cells in unstimulated condition, after stimulation with PHA (2.5 μg/mL) and after stimulation with K562 target cells. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Download ppt "A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency  Heidi Schaballie, MD, Rémy Rodriguez, MS, Emmanuel Martin, PhD, Leen Moens,"

Similar presentations

Monica G. Lawrence, MD, Jennifer W. Leiding, MD, Jonathan J

Monica G. Lawrence, MD, Jennifer W. Leiding, MD, Jonathan J
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO  Sofie E. Jørgensen, MS, Pernille Bøttger, PhD, Emil Kofod-Olsen,

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO  Sofie E. Jørgensen, MS, Pernille Bøttger, PhD, Emil Kofod-Olsen,
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis  Giuliana Giardino,

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis  Giuliana Giardino,
Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of.

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of.
The human polysaccharide- and protein-specific immune response to Streptococcus pneumoniae is dependent on CD4+ T lymphocytes, CD14+ monocytes, and the.

The human polysaccharide- and protein-specific immune response to Streptococcus pneumoniae is dependent on CD4+ T lymphocytes, CD14+ monocytes, and the.
Janet Chou, MD, Yousef R. Badran, MD, Christina S. K

Janet Chou, MD, Yousef R. Badran, MD, Christina S. K
Defective calcium signaling and disrupted CD20–B-cell receptor dissociation in patients with common variable immunodeficiency disorders  Annick A.J.M.

Defective calcium signaling and disrupted CD20–B-cell receptor dissociation in patients with common variable immunodeficiency disorders  Annick A.J.M.
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,
Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease  Vassilios Lougaris, MD, Giovanna Tabellini, PhD, Massimiliano Vitali,

Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease  Vassilios Lougaris, MD, Giovanna Tabellini, PhD, Massimiliano Vitali,
Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood  Glynis Frans, MPharm, Leen Moens, PhD, Heidi.

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood  Glynis Frans, MPharm, Leen Moens, PhD, Heidi.
Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation  Glynis Frans, MPharm, PhD, Jutte Van der Werff Ten.

Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation  Glynis Frans, MPharm, PhD, Jutte Van der Werff Ten.
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency 

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency 
William A. Comrie, PhD, Aiman J

William A. Comrie, PhD, Aiman J
A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity  Raquel.

A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity  Raquel.
A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD,

A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD,
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment  Federica Cattaneo, MD, Mike.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment  Federica Cattaneo, MD, Mike.
Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J

Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal- dominant gain-of-phosphorylation STAT1 mutations  Pamela P.W. Lee,

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal- dominant gain-of-phosphorylation STAT1 mutations  Pamela P.W. Lee,
Targeting Toll-like receptors on dendritic cells modifies the TH2 response to peanut allergens in vitro  Pierre Pochard, PhD, Brian Vickery, MD, M. Cecilia.

Targeting Toll-like receptors on dendritic cells modifies the TH2 response to peanut allergens in vitro  Pierre Pochard, PhD, Brian Vickery, MD, M. Cecilia.

Similar presentations

Ads by Google