Universität zu Köln

Bergbreiter, Astrid, Jaeger, Teresa, Karle, Antje, Bitzinger, Diane, Ettl, Tobias, Spanier, Gerrit ORCID: 0000-0002-0226-7580, Jaegle, Herbert, Neu, Reiner, Soeder, Yorick, Evert, Matthias, Reichert, Torsten E., Berneburg, Mark, Brochhausen, Christoph, Schreml, Julia, Fliegauf, Manfred, Salzer, Ulrich, Redel, Andreas and Schreml, Stephan (2021). Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation. Eur. J. Med. Genet., 64 (3). AMSTERDAM: ELSEVIER. ISSN 1878-0849

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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:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Bergbreiter, Astrid UNSPECIFIED UNSPECIFIED UNSPECIFIED Jaeger, Teresa UNSPECIFIED UNSPECIFIED UNSPECIFIED Karle, Antje UNSPECIFIED UNSPECIFIED UNSPECIFIED Bitzinger, Diane UNSPECIFIED UNSPECIFIED UNSPECIFIED Ettl, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Spanier, Gerrit UNSPECIFIED orcid.org/0000-0002-0226-7580 UNSPECIFIED Jaegle, Herbert UNSPECIFIED UNSPECIFIED UNSPECIFIED Neu, Reiner UNSPECIFIED UNSPECIFIED UNSPECIFIED Soeder, Yorick UNSPECIFIED UNSPECIFIED UNSPECIFIED Evert, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Reichert, Torsten E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Berneburg, Mark UNSPECIFIED UNSPECIFIED UNSPECIFIED Brochhausen, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Schreml, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Fliegauf, Manfred UNSPECIFIED UNSPECIFIED UNSPECIFIED Salzer, Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Redel, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Schreml, Stephan UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-589141
DOI:	10.1016/j.ejmg.2021.104144
Journal or Publication Title:	Eur. J. Med. Genet.
Volume:	64
Number:	3
Date:	2021
Publisher:	ELSEVIER
Place of Publication:	AMSTERDAM
ISSN:	1878-0849
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/58914