Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J

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Presentation transcript:

Common variable immunodeficiency and hemophagocytic features associated with a FAS gene mutation Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J. aan de Kerk, MD, Machiel H. Jansen, Natasja Dors, MD, Rene A.W. van Lier, MD, PhD, Steven T. Pals, MD, PhD Journal of Allergy and Clinical Immunology Volume 127, Issue 6, Pages 1411-1414.e2 (June 2011) DOI: 10.1016/j.jaci.2011.01.046 Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 B-cell proliferation on antigen receptor–dependent and antigen receptor–independent stimulation. Shown are the reactivity of the patient’s CD19+CD20+ B cells compared with a healthy age-matched control subject. The experiment shown is representative for at least 3 different experiments (A). The T-cell receptor αβ–positive CD4−CD8− DNTs are shown in the lower left corner for the patient, his father, and a healthy control subject (right to left, respectively; B). The pedigree of the family is shown. Father and son carry the same mutation; the sister of the father and one of her sons had positive test results for the mutation. The grandmother was found to have a negative test result for the FAS mutation, and the grandfather had died previously from gastric lymphoma (MALT; C). FITC, Fluorescein isothiocyanate; PerCP, peridinin-chlorophyll-protein complex. Journal of Allergy and Clinical Immunology 2011 127, 1411-1414.e2DOI: (10.1016/j.jaci.2011.01.046) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Lymph node of the patient with CVID with a classical FAS gene mutation Lymph node of the patient with CVID with a classical FAS gene mutation. Upper left, Lymph node section showing B-cell follicles (CD20+) and expanded paracortical T-cell areas. Middle left, In the paracortex a marked focal expansion of CD1a+ Langerhans cells is present. Upper right, Increased numbers of terminal deoxynucleotidyl transferase (TdT)–positive lymphocytes. Lower panel, Serial sections comparing expression of CD3, CD4, and CD8 in the T-cell areas. As is shown, the vast majority of T cells (CD3+) are DNT cells, lacking both CD4 and CD8. Journal of Allergy and Clinical Immunology 2011 127, 1411-1414.e2DOI: (10.1016/j.jaci.2011.01.046) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions