1. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency 
Laura Gámez-Díaz, MSc, Dietrich August, cand. MD, Polina Stepensky, MD, Shoshana Revel-Vilk, MD, MSc, Markus G. Seidel, MD, Mitsuiki Noriko, MD, Tomohiro Morio, MD, PhD, Austen J.J. Worth, MD, PhD, Jacob Blessing, MD, PhD, Frank Van de Veerdonk, MD, PhD, Tobias Feuchtinger, MD, Maria Kanariou, MD, PhD, Annette Schmitt-Graeff, MD, Sophie Jung, DD, PhD, Suranjith Seneviratne, MD, PhD, Siobhan Burns, MD, Bernd H. Belohradsky, MD, Nima Rezaei, MD, PhD, Shahrzad Bakhtiar, MD, Carsten Speckmann, MD, Michael Jordan, MD, Bodo Grimbacher, MD 
Journal of Allergy and Clinical Immunology 
Volume 137, Issue 1, Pages (January 2016)
DOI: /j.jaci
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2. Fig 1
Clinical manifestations of LRBA-deficient patients grouped by organs or affected systems. Clinical manifestations are represented as percentages. Blue bars indicate immune dysregulatory diseases, red bars indicate organomegalies, green bars cluster respiratory tract infections and parenchymal lung damages, orange bars represent low levels of immunoglobulin classes, the dark blue bar indicates failure to thrive, and purple and dark green bars denote stroke and deafness, respectively.
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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3. Fig 2
Intestinal, pulmonary, and splenic alterations in LRBA-deficient patients. A, Colonoscopy in patient revealed severe circular inflammation in the rectum, numerous ulcerations, and mucosal edema and erythema. B, Magnetic resonance image from patient 109 showing marked splenomegaly. C, High-resolution chest computed tomographic scan from patient showing atypical, partly conflating patchy alveolar consolidations in both lungs. D, Marked regression of alveolar consolidation 2 years after therapy and slight bilateral ground-glass infiltrates.
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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4. Fig 3
Reduced Treg cell numbers and B-cell subsets in LRBA-deficient patients. Immunophenotyping of blood cells in LRBA-deficient patients is shown as follows: reduction of absolute numbers or relative percentages (only B-cell subsets) in red, normal values in white, and increases in blue. Normal ranges are age related.9,10 Detailed information is provided in Table E2 in this article's Online Repository at
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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5. Fig 4
Schematic representation of LRBA protein domains and genetic variants. Mutations identified in our LRBA-deficient cohort are printed above the LRBA pictogram, whereas published mutations in LRBA that are not part of our cohort are shown below the pictogram.
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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6. Fig E1
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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7. Fig E2
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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8. Fig E3
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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9. Fig E4
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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10. Fig E5
Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci )
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