[CIS PIDD] [cis-pidd] 17q trisomy

[CIS-PIDD]

Dear all, we would appreciate your help with this case, 

It is a 5 yo boy who presented with EBV-related acute nephritis (confirmed primo infection, no HLH, no fulminant MI) that leaded to end-stage renal disease and required renal transplantation. At that point, low IgG (290 mg/dl) was detected with concomitant urine protein loss, lymphocyte subsets were almost normal except for increased CD4+ (4650/mm3) and decreased NK+ cells (200/mm3) and negative autoantibodies, degranulation and NK cytotoxicity were normal and SAP and XIAP sequencing showed no mutations. 

One year after transplantation, while receiving immunosuppressant therapy, the patient has presented recurrent episodes of demyelinating encephalopathy associated with high EBV viral load in blood and positive but low EBV-VL in CSF. The patient has been treated with high-dose steroids and rituximab with good clinical response and partial recovery. 

r-CGH was performed and a segmental trisomy in 17q21.2 that includes 17 genes (including STAT5B, STAT5A, STAT3 and NKIRAS2 (NFKB pathway), DHX58 (Innate Immune System), RAB5C (Innate Immune System), GHDC (Innate Immune System) ) was demonstrated. 

Functional analysis to assess the functional effect of this trisomy are difficult due to patient’s baseline immunosuppressant therapy (added to current high-dose steroids and rituximab) and we have reviewed the literature and only a similar case has been reported without almost any clinical concordance ( European Journal of Medical Genetics Volume 56, Issue 4, April 2013, Pages 226–228 ). 

Do you have any experience with PID caused by similar chromosomal abnormalities? 

Any other proposal? 

Best regards from BCN, 

P. 

Pere Soler Palacín, MD, PhD, MSc. 
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron. 
Vall d'Hebron Research Institute (VHIR) 
Assistant Professor. Universitat Autònoma de Barcelona (UAB) 
Director of the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies (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 
ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin 
LinkedIn: www.linkedin.com/in/pere-soler-palacin 


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