[PAGID] CVID/HIGM/ALPS

[Jack Bleesing]

Yes, HIGM6 is NEMO and 2 of my last 4 patients had no ectodermal
dysplasia and/or its stigmata; one came originally for an ALPS
evaluation (Evans' syndrome and LPD); the other was previously diagnosed
with CVID.

Regards,

JB



---------------------------------------------------------------------------
Jack J.H. Bleesing, M.D., Ph.D.
Cincinnati Children's Hospital Medical Center
Division of Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org
http://www.cincinnatichildrens.org/immunodeficiencies/



>>> "Renner, Eleonore  Dr." <Ellen.Renner at med.uni-muenchen.de> 8/7/2008

12:47:34 PM >>>
Hi, 
a hyper-IgM syndrome sound likely with decreased memory b cells, low
IgG, normal to high IgM.
Is there a ratio between IgM memory (CD19+, CD27+, IgM+, IgD+) and
switched memory (CD19+, CD27+, IgM-, IgD-) to determined? Ratios of IgM
memory : switched memory > 2:3 could be a hind.
And the significant cervical lymphadenopathy could lead you to a AID
mutation in my opinion. 
HIGM6 is NEMO (correct?) and would fit IL12/INFg pathways infections
observed? But any ectrodermal dysplasia or abnormal teeth? 
Sincerely, 

Ellen

Dr. med. Ellen D Renner
Kinderklinik und Kinderpoliklinik 
im Dr. von Haunerschen Kinderspital
Ludwig Maximilians Universität
Lindwurmstr. 4
D-80337 München
Germany 

Phone:      **49-(0)89-5160-3157
            **49-(0)89-5160-2811
Fax:     	**49-(0)89-5160-7759 

Ellen.Renner at med.uni-muenchen.de 


 


 

-----Ursprüngliche Nachricht-----
Von: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Jack
Bleesing
Gesendet: Donnerstag, 7. August 2008 18:30
An: pagid at list.clinimmsoc.org 
Betreff: Re: [PAGID] CVID/HIGM/ALPS

HIGM6

Dr. Uzel at the NIH can sequence for you.

JB

---------------------------------------------------------------------------
Jack J.H. Bleesing, M.D., Ph.D.
Cincinnati Children's Hospital Medical Center Division of
Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org 
http://www.cincinnatichildrens.org/immunodeficiencies/ 



>>> "Lisa Kobrynski, MD, MPH" <lkobryn at emory.edu> 8/7/2008 10:45:55 AM



>>> >>>

I was hoping to get some suggestions on a patient of mine I am
following a 10 year old boy who presented initially with lymphadenitis
and bronchiectasis at age 4 years.  He had malakoplakia found by the
pathologists in his tonsillar tissue after a tonsillectomy.

He initially had low IgG and IgA with a normal IgM and very poor
specific antibody responses and was given a diagnosis of CVID.
Over the years he has had assorted infections (yersinia, salmonella
enteritis,
pneumonia) but developed very significant cervical lymphadenopathy last
year. 
Repeated biopsies have not shown any malignant transformation or
clonality of the cells.  One node became necrotic and grew achromobacter
xylosidans, which he has had intermittently in the blood ever since.  It
is not resistant to everything.  Also his IgM is now over 3000.  ALPS
panel initially showed an increase in DN T cells, activated T cells and
a decrease in memory B cells.  DN T cell % had decreased at the last
measurement.
He has minimal hilar adenopathy, some mild inguinal adenopathy, but the
cervical LN are the biggest issue.

I want to take a poll and find out who thinks this is just CVID with
lymphoproliferation?  SHould we treat him with chemotherapeutic agents
to suppress the lymphoproliferation?
Could this have been ALPS all along?
WHo thinks this is a HyperIgM - AID or UNG defect?  (We checked CD40
and CD40L and they were normal)

Thanks
Lisa

Lisa Kobrynski, MD, MPH
Associate Professor of Pediatrics
Division of Allergy and Immunology
Emory University
404-727-3575
404-727-5045 (fax)