Presentation is loading. Please wait.

Presentation is loading. Please wait.

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency  Abdullah Alangari, MD,

Published byDeborah Nash Modified over 6 years ago

Similar presentations

Presentation on theme: "LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency  Abdullah Alangari, MD,"— Presentation transcript:

1 LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency  Abdullah Alangari, MD, Abdulrahman Alsultan, MD, Nouran Adly, BSc, Michel J. Massaad, PhD, Iram Shakir Kiani, MD, Abdulrahman Aljebreen, MD, Emad Raddaoui, MD, Abdul-Kareem Almomen, MD, Saleh Al-Muhsen, MD, Raif S. Geha, MD, Fowzan S. Alkuraya, MD  Journal of Allergy and Clinical Immunology  Volume 130, Issue 2, Pages e2 (August 2012) DOI: /j.jaci Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Pedigree of a multiplex consanguineous family with a novel phenotype of CVID, immune dysregulation, or both characterized by IBD. Solid symbols denote affected status. Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Histology of patients' intestinal biopsy specimens. A, Duodenal biopsy specimen from patient VI:2 showing marked villous atrophy and increased chronic inflammatory lymphoplasma cells in the lamina propria (hematoxylin and stain, original magnification ×20). B, High-power view of a duodenal biopsy specimen from patient VI:2 showing increased intraepithelial lymphocytes (arrows; hematoxylin and eosin stain, original magnification ×60). C, Colonic biopsy specimen from patient V:4 (transverse colon) showing a remarkable increase in mixed acute and chronic inflammatory cell numbers in the lamina propria and a decreased number of crypts and fibrosis, mainly subepithelial (arrow; hematoxylin and eosin stain, original magnification ×20). D, High-power view of a colonic biopsy specimen from patient V:4 (transverse colon) showing increased intraepithelial lymphocyte numbers (arrows; hematoxylin and eosin stain, original magnification ×60). Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig 3 Filtration scheme of the exome variants identified in patient VI:5. Note the dramatic reduction in the number of candidate variants when filtered by the coordinates of the autozygosity intervals that are exclusively shared between the affected members. Only 1 of the 13 coding/splicing variants was novel (ie, not found in publically available single nucleotide polymorphism databases or our in-house 183 Saudi exomes). Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig 4 A, Genomic structure of the LRBA gene. The location of the mutation is denoted by the red bar, and the genomic sequence around it in the patient (Pt) and control subject (NC) is shown under it. B, Schematic structure of the LRBA protein. Note that the truncating mutation removes the BEACH and WD40 domains at the C-terminus, which are functionally important in CHS/LYST. ARM, Armadillo; DUF, domain of unknown function. C, Western blot analysis reveals the absence of the hypothetical 247-kDa truncated LRBA in 2 patients' cell lines compared with the 320-kDa normal LRBA band seen in both control cell lines (NC 1 and NC 2). Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E1 A, Lymph node (left axilla) shows marked follicular lymphoid hyperplasia with prominent germinal centers (hematoxylin and eosin stain, original magnification ×20). B, The same lymph node. A CD20 immunohistochemistry stain specific for B cells (Novocastra, Newcastle Upon Tyne, United Kingdom) shows dense staining (CD20 marker, immunohistochemical stain, original magnification ×20). Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

7 Fig E2 RT-PCR analysis shows no evidence of significant nonsense-mediated decay affecting the aberrant LRBA transcript in patients because it appears to have comparable abundance with the normal transcript seen in control subjects. Journal of Allergy and Clinical Immunology  , e2DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Download ppt "LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency  Abdullah Alangari, MD,"

Similar presentations

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,
A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene  Suna Büyüköztürk, MD, Belgin Kesim Eroğlu, MD, Aslı Gelincik, MD,

A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene  Suna Büyüköztürk, MD, Belgin Kesim Eroğlu, MD, Aslı Gelincik, MD,
Janet Chou, MD, Yousef R. Badran, MD, Christina S. K

Janet Chou, MD, Yousef R. Badran, MD, Christina S. K
Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency  Andrea Newell, BSc, Harjit Dadi, PhD, Rachel Goldberg, BSc, Bo-Yee Ngan, MD,

Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency  Andrea Newell, BSc, Harjit Dadi, PhD, Rachel Goldberg, BSc, Bo-Yee Ngan, MD,
Zeynep Yesim Kucuk, MD, Louis-Marie Charbonnier, PhD, Richard L

Zeynep Yesim Kucuk, MD, Louis-Marie Charbonnier, PhD, Richard L
BCG-osis and tuberculosis in a child with chronic granulomatous disease  Jacinta Bustamante, MD, PhD, Guzide Aksu, MD, Guillaume Vogt, PhD, Ludovic de.

BCG-osis and tuberculosis in a child with chronic granulomatous disease  Jacinta Bustamante, MD, PhD, Guzide Aksu, MD, Guillaume Vogt, PhD, Ludovic de.
Disease-specific expression and regulation of CCAAT/enhancer-binding proteins in asthma and chronic obstructive pulmonary disease  Peter Borger, PhD,

Disease-specific expression and regulation of CCAAT/enhancer-binding proteins in asthma and chronic obstructive pulmonary disease  Peter Borger, PhD,
Ann-Marie M. Schoos, MD, PhD, Jacob D

Ann-Marie M. Schoos, MD, PhD, Jacob D
Intrinsic atopic dermatitis shows similar TH2 and higher TH17 immune activation compared with extrinsic atopic dermatitis  Mayte Suárez-Fariñas, PhD,

Intrinsic atopic dermatitis shows similar TH2 and higher TH17 immune activation compared with extrinsic atopic dermatitis  Mayte Suárez-Fariñas, PhD,
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.
Alefacept (lymphocyte function-associated molecule 3/IgG fusion protein) treatment for atopic eczema  Dagmar Simon, MD, Jennifer Wittwer, MD, Ganna Kostylina,

Alefacept (lymphocyte function-associated molecule 3/IgG fusion protein) treatment for atopic eczema  Dagmar Simon, MD, Jennifer Wittwer, MD, Ganna Kostylina,
Histologic eosinophilic gastritis is a systemic disorder associated with blood and extragastric eosinophilia, TH2 immunity, and a unique gastric transcriptome 

Histologic eosinophilic gastritis is a systemic disorder associated with blood and extragastric eosinophilia, TH2 immunity, and a unique gastric transcriptome 
Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J

Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation  Ali Sobh, MD, Janet Chou,

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation  Ali Sobh, MD, Janet Chou,
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations  Dimitra Kiritsi,

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations  Dimitra Kiritsi,
Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency  Vy Hong-Diep Kim, MD, Brenda Reid,

Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency  Vy Hong-Diep Kim, MD, Brenda Reid,
Is 9 more than 2 also in allergic airway inflammation?

Is 9 more than 2 also in allergic airway inflammation?
Association Between Ipilimumab and Celiac Disease

Association Between Ipilimumab and Celiac Disease
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association  Christina S. Yee,

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association  Christina S. Yee,
Pathergy response to skin prick testing

Pathergy response to skin prick testing

Similar presentations

Ads by Google