Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome.
Nijmegen breakage syndrome (NBS) is a chromosomal breakage disorder with characteristic physical features, chromosomal instability, and combined immunodeficiency. It is closely related to other chromosomal breakage disorders like ataxia telangiectasia. Noninfectious granulomatous inflammation refractory to treatment is a relatively common feature in ataxia telangiectasia. Herein we report a patient with NBS who developed chronic refractory necrotizing granulomatous ulcerations and review the pathophysiology of NBS and noninfectious granulomas in primary immunodeficiency syndromes.
Vogel
Curt A
CA
University of Wisconsin, Madison, Wisconsin, USA.
Stratman
Erik J
EJ
Reck
Samuel J
SJ
Lund
Jared J
JJ
D002648:Child; D002908:Chronic Disease; D005260:Female; D006099:Granuloma / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006801:Humans; D009336:Necrosis; D049932:Nijmegen Breakage Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D053632:X-Linked Combined Immunodeficiency Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology