[CIS PIDD] [cis-pidd] Autoimmunity

Tue Jul 19 13:04:14 EDT 2016

Thanks Bodo!

The microarray suggested a different area of chromosome 2 --- 
arr2q13(110,190,958-110,340,962)x1

Dave

>>> "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 7/18/2016 3:25 PM >>>
Dear Dave, 
CTLA4 and ICOS are on chr2q.
May it be CTLA4 haploinsufficiency? Would fit as AD…
Best, Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Breisacherstraße 115, 79106 Freiburg
bodo.grimbacher at uniklinik-freiburg.de 
www.uniklinik-freiburg.de/cci

and 

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk

www.centreforimmunodeficiency.com

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net>
Datum: Thursday 14 July 2016 09:40
An: CIS-PIDD <cis-pidd at lyris.dundee.net>
Betreff: Re:[cis-pidd] Autoimmunity

Dear Colleagues,

I have another young man that would benefit from additional
thoughts......

I have a 17 year old young man that came to me with a history of
autism, platelet dysfunction, and a diagnosis of CVID.  No issues with
lymphadenopathy or organomegaly. He does have significant autoimmunity. 
His mother also suffers from autoimmunity.  Notably, he has had Graves
disease.  He has detectable autoantibodies to thyroid peroxidase and
thyroglobulin.  He has a positive DAT, but no clinically significant
hemolysis.  He also has some mild thrombocytopenia.  He also has had
biopsy evidence of small and large bowel inflammation with granuloma
formation.  More recently, he has developed peri-anal fistulas that have
been problematic.   He has been diagnosed with a "Crohn's-like" issue.  
No immunomodulatory therapy has been provided.  I have tried some
platelet support to see if it would help with his peri-anal fistula with
respect to healing.  It helped for a short while, but now there is
worsening.  

He has remained on immunoglobulin support for many years.  On
immunoglobulin support his immunoglobulin levels are normal including a
IgE level (not elevated).  His lymphocyte immunophenotyping is
relatively unremarkable. Absolute numbers are as follows:  CD3 682,  CD4
460, CD8 207, CD19 140, CD45RA 322, and CD45RO 183. Memory B cells and
class switched memory B cells are slightly diminished at 12 and 5;
respectively.  Absolute numbers of naive B cells are fine.    

He has had some genetic testing done including testing for
mitochondrial issues and Fragile X.  A microarray was done -  a 150 Kb
loss was noted on the long arm of chromosome #2 - thought to be likely
benign. Exome analysis was done 2 years ago without any variants of
clinical relevance at a outside center.  I looked for a few things
functionally -  his DHR was normal.  WAS protein expression was normal. 
FOXP3 analysis was normal.  IL-10 pathway analysis was unremarkable.  I
did platelet EM to look for evidence of HPS - normal.  

I welcome any suggestions for additional targeted genetic or functional
analysis.  I was also considering additional immunomodulatory therapy -
focusing on his fistualizing issues (? rituximab + azathioprine or other
agents such as ? sirolimus).  Any suggestions would be welcome as well
in this arena.

Thanks as always,

Dave Buchbinder, MD
CHOC Children's Hospital 

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