scholarly journals Inflammatory bowel disease after allogeneic stem cell transplantation

2015 ◽  
Vol 50 (10) ◽  
pp. 1365-1366
Author(s):  
I Boussen ◽  
H Sokol ◽  
S Aractingi ◽  
O Georges ◽  
N Hoyeau-Idrissi ◽  
...  
2003 ◽  
Vol 75 (10) ◽  
pp. 1745-1747 ◽  
Author(s):  
Markus Ditschkowski ◽  
Hermann Einsele ◽  
Rainer Schwerdtfeger ◽  
Donald Bunjes ◽  
Rudolf Trenschel ◽  
...  

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Neslihan Edeer Karaca ◽  
Guzide Aksu ◽  
Ezgi Ulusoy ◽  
Serap Aksoylar ◽  
Salih Gozmen ◽  
...  

Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.


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