Bergbreiter, Astrid and Jaeger, Teresa and Karle, Antje and Bitzinger, Diane and Ettl, Tobias and Spanier, Gerrit and Jaegle, Herbert and Neu, Reiner and Soeder, Yorick and Evert, Matthias and Reichert, Torsten E. and Berneburg, Mark and Brochhausen, Christoph and Schreml, Julia and Fliegauf, Manfred and Salzer, Ulrich and Redel, Andreas and Schreml, Stephan (2021) Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation. EUROPEAN JOURNAL OF MEDICAL GENETICS, 64 (3): 104144. ISSN 1769-7212, 1878-0849
Full text not available from this repository. (Request a copy)Abstract
Background: Mutations in NFKB1(nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) are associated with a variety of clinical symptoms, including lymphadenopathy, splenomegaly, hepatomegaly, autoimmune haemolytic anaemia, arthralgia, recurrent respiratory tract infections and post-operative necrotizing cellulitis. Case presentation: We describe a case of a 47-year-old man, who presented with deep necrotizing cellulitis after incision of a submucous abscess by a dentist. Surgical intervention led to a massive progress. Pyoderma gangraenosum (PG) was diagnosed clinically and confirmed histopathologically. High dose corticosteroids and intravenous immunoglobulins (IVIG) improved wound healing dramatically. Until now, immune mediated inflammation events not only affected the skin, but also multiple inner organs, i.e. the heart, lungs and gut. Sequencing of all coding exons of NFKB1 revealed a heterozygous 1bp deletion in exon 23 predicting a frameshift starting at codon Ala891 and resulting in a subsequent stop codon at position 6 in the new reading frame: NM_003998.4: c.2671del; p.(Ala891Glnfs*6) Acute episodes were always successfully treated with corticosteroids, IVIG and concomitant antibiotics. To prevent further exacerbations, the patient receives IVIG once a month, low-dose corticosteroids and methotrexate. Conclusion: This is the first case of a patient with recurrent necrotizing cellulitis and immune mediated multi organ involvement (heart, lungs, intestine) carrying the novel frameshift mutation c.2671del (p. Ala891Glnfs*6) in NFKB1 effectively treated with IVIG, low-dose corticosteroids and methotrexate.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ; NFKB1; Necrotizing cellulitis; Pyoderma gangraenosum; Immune mediated disorders; Immunodeficiency; Immunoglobulins |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Anästhesiologie Medicine > Lehrstuhl für Augenheilkunde Medicine > Lehrstuhl für Chirurgie Medicine > Lehrstuhl für Dermatologie und Venerologie Medicine > Lehrstuhl für Herz-, Thorax- und herznahe Gefäßchirurgie Medicine > Lehrstuhl für Mund-, Kiefer- und Gesichtschirurgie Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 22 Aug 2022 08:47 |
| Last Modified: | 22 Aug 2022 08:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/46326 |
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