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      A 23-Year-Old Man with Hyper-IgM Syndrome Presenting with Asymptomatic Violaceous Facial Plaques

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          Abstract

          Tumid lupus is a rare subtype of chronic cutaneous lupus that is characterized by urticaria-like photosensitive plaques. Unlike discoid lupus, it has minimal to no surface change and resolves without scarring. On pathological examination, it may be distinguished from other types of lupus by abundant interstitial mucin deposits. Herein, we describe a case of tumid lupus in a 23-year-old Kuwaiti male with hyper-IgM syndrome. To our best knowledge, this is the first report of tumid lupus in a patient with a primary immunodeficiency.

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          Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.

          Alain Fischer, Ozden Sanal, Alessandro Plebani … (2003)
          Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' median age at diagnosis and at last evaluation was 4.9 years (range: 0 to 53) and 14.2 years (range: 2.7 to 63), respectively. Most patients had suffered from recurrent and severe infections, however, intravenous immunoglobulin (IVIG) replacement therapy resulted in a dramatic decrease in the number of infections. Lymphoid hyperplasia developed in 22 patients and persisted in 7 at last follow-up. It is striking to note that six patients developed autoimmune or inflammatory disorders including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn's disease and chronic uveitis. Fifteen distinct AID mutations were found but there was no significant genotype-phenotype correlation. In conclusion, AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders.
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            Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans.

            Eric Meffre, Greta Meyers, Gokhan S. Kilic … (2011)
            Impaired immune functions leading to primary immunodeficiencies often correlate with paradoxical autoimmune complications; patients with hyper-IgM syndromes who are deficient in activation-induced cytidine deaminase (AID), which is required for class-switch recombination and somatic hypermutation, are prone to develop autoimmune diseases. To investigate the impact of AID-deficiency on early B-cell tolerance checkpoints in humans, we tested by ELISA the reactivity of recombinant antibodies isolated from single B cells from AID-deficient patients. New emigrant/transitional and mature naive B cells from AID-deficient patients express an abnormal Ig repertoire and high frequencies of autoreactive antibodies, demonstrating that AID is required for the establishment of both central and peripheral B-cell tolerance. In addition, B-cell tolerance was further breached in AID-deficient patients as illustrated by the detection of anti-nuclear IgM antibodies in the serum of all patients. Thus, we identified a major and previously unsuspected role for AID in the removal of developing autoreactive B cells in humans.
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              Lupus Erythematosus Tumidus

              Annegret Kuhn, Dagmar Richter-Hintz, Claudia Oslislo … (2000)
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                Author and article information

                Journal
                Journal ID (publisher-id): DPA
                Journal ID (pmc): DPA
                Journal ID (doi): 10.1159/issn.2296-3529
                Title: Dermatopathology
                Publisher: S. Karger AG
                ISSN (Electronic): 2296-3529
                Publication date Subscription-year: 2019
                Publication date Collection: August 2020 2019
                Publication date (Electronic): 22 January 2020
                Volume: 6
                Issue: 4
                Pages: 246-250
                Affiliations
                [_a] aDepartment of Radiology, Brigham and Womens Hospital, Boston, Massachusetts, USA
                [_b] bDepartment of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA
                [_c] cHarvard Combined Dermatology Residency Program, Boston, Massachusetts, USA
                [_d] dDepartment of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA
                Author notes
                *Daniela Kroshinsky, MD, MPH, Department of Dermatology, Massachusetts General Hospital, 50 Staniford Street, 2nd Floor, Boston, MA 02114 (USA), E-Mail dkroshinsky@partners.org
                Article
                Publisher ID: 503744 Pmcid ID: PMC7011746 Other ID: Dermatopathology 2019;6:246–250
                DOI: 10.1159/000503744
                PMC ID: PMC7011746
                PubMed ID: 32083062
                SO-VID: 896c1db2-0b74-4303-bb89-d13b86c6b9b1
                Copyright © © 2020 The Author(s) Published by S. Karger AG, Basel
                License:

                This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND). Usage and distribution for commercial purposes as well as any distribution of modified material requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Date received : 02 September 2019
                Date accepted : 29 September 2019
                Page count
                Figures: 2, Pages: 5
                Categories
                Subject: Clinico-Pathological Correlation in Dermatopathology

                ScienceOpen disciplines: Oncology & Radiotherapy,Pathology,Surgery,Dermatology,Pharmacology & Pharmaceutical medicine
                Keywords: Activation-induced cytidine deaminase deficiency,Tumid lupus,Hyper-IgM syndrome,Facial plaques
                Data availability:
                ScienceOpen disciplines: Oncology & Radiotherapy, Pathology, Surgery, Dermatology, Pharmacology & Pharmaceutical medicine
                Keywords: Activation-induced cytidine deaminase deficiency, Tumid lupus, Hyper-IgM syndrome, Facial plaques

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