[CIS PIDD] [cis-pidd] Severe lymphadenopathy and chronic enteritis

Tue Oct 28 10:26:46 EDT 2014

Dear colleagues, we'd really appreciate your thoughts about this tough case we are currently facing since we are in an impasse and the patient is severely ill. Currently, t he main problem is persistent diarrhoea and malnutrition. Any suggestions would be highly appreciated, including possible therapies to improve the enteritis. 

He is a 13 year-old male patient with uncontrolled persistent recurrent benign B-cell lymphoproliferation associated with chronic EBV infection since early infancy that needed repeated courses of rituximab with good but transient response and uncontrolled diarrhoea in the last 4 months. 

Family history: 

Caucasian. No consanguinity. Mother with coeliac disease 

Medical history 

-Since 18 months of age, the patient presents recurrent and severe episodes of lymphadenopathies both peripheral and profound , and splenomegaly with persistent EBV viraemia that did not respond to antiviral therapy (only transient responses were observed) and finally, partially responded to repeated courses of rituximab ( see pictures in the attached document ). EBV viraemia remains negative since the last course of RTX (2013). 

- He has never developed haemophagocytosis. 

- Normal liver function throughout all the episodes. 

- No persistent fever. 

- No other infections. 

-        No autoimmune manifestations. 

-        No endocrine disorders. 

-     Failure to thrive due to persistent diarrhoea with elevated faecal calprotectin . He was on gluten free diet since 8 years of age, and after 9 months of a gluten free diet the intestinal biopsy showed no improvement. Budesonide was no effective (no clinical or pathological improvement). Bowel biopsy (July 2013): A moderate amount of villi with a shortened length were observed. The lamina propria contains an inflamatory cellular infiltrate, predominately lymphoplasmacytic. Using a CD3 immunohistochemical technique a percentage of 27% lymphocytes within the epithelial cells was calculated. These lymphocytes coexpress CD3+ and CD8+. 

  - Immunological tests    

    * Undetectable IgA + high IgM + low limit IgG. Periodic IVIG therapy restored IgG levels to normal although high doses needed. 
    * Lymphocyte subsets: CD3: 79.45 (3.58 10E9/L), CD3+CD4+: 12.55 (0.56 10E9/L), CD3+CD8+: 65.68 (2.68 10E9/L), INDEX CD4/CD8 0.19, CD19: 0.88 (0.04 10E9/L), CD56+CD16+: 18.36 (0.83 10E9/L),  TCR alpha/beta on DNT cells: 1% 
    * Proliferation assays: Low proliferation with PHA, normal with anti-CD3. 
    * IgE= 0 UI/ml, Vitamin B12= 583 ng/ml: 
    * FOXP3 and CD25 expression: Normal. 
    * CD40 and CD40L expression: Normal. 
    * Neutrophil burst assay: Normal. 
    * Mild decrease in intracellular SH2DA1. 
    * High perforin expression in CD8 + . 

  Genetic tests: 

    * No mutations in SAP, XIAP, FAS, ITK and MAGT1 genes. 
    * CD27 expression in CD3+: normal (no assessable in B cells due to several courses of rituximab). 
    * PKCd and Coronin 1 not tested. 

 Best regards from BCN, 

Pere Soler Palacín, MD, PhD. 
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     
Assistant Professor. Universitat Autònoma de Barcelona.                                                       
Pg. de la Vall d'Hebron, 119-129 
08035 Barcelona. Spain. 
Tel. 0034934893140. Fax 0034934893039. 
psoler at vhebron.net ; 34660psp at comb.cat .  
Web: www.upiip.com 
My ORCID is: http://orcid.org/0000-0002-0346-5570 
LinkedIn 

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