[CIS-PAGID] 8 year old girl with mitochondrialdisorder and severe infections

[Boyce, Thomas G., M.D.]

would be interesting to collaborate and write up a case series unless
this is already well known in the literature.  i did not find much with
my search.

________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Daniel Conway
Sent: Tuesday, May 29, 2012 5:44 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] 8 year old girl with mitochondrialdisorder and
severe infections


I have one young man presenting with mitochondrial deficiency, IgG of
150 at 11 years of age.  No febrile response to infections.  Pneumoniae
(6), sinusitis, and enteritides were common and prolonged.  

IgG replacement changed that and he has not had a pneumonia for 10
years. 

Sincerely, 
Daniel H. Conway, MD 
Assistant Professor of Pediatrics
St. Christopher's Hospital for Children
Drexel University College of Medicine

On May 29, 2012, at 6:35 PM, "Nelson, Robert P Jr" <ronelson at iupui.edu>
wrote:



	Dr. Boyce,

	Yes, I 've also wondered about this.  I have one child with
antibody deficiency, mannose binding lectin deficiency, mitochondrial
disorder and asthma.  Doing well on IVIG.

	Bob 

	

	Robert P. Nelson Jr., MD

	Professor of Medicine and Pediatrics

	Divisions of Hematology/Oncology

	535 Barnhill Dr. Ste 473

	Indianapolis, IN  46202

	Telephone: 317-948-1186

	E-mail: ronelson at iupui.edu <mailto:ronelson at iupui.edu> 

	pager:  317-312-1773

	

	From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Church, Joseph
	Sent: Tuesday, May 29, 2012 6:29 PM
	To: pagid at list.clinimmsoc.org
	Subject: Re: [CIS-PAGID] 8 year old girl with mitochondrial
disorder and severe infections

	

	Tom:

	

	We (myself and our Geneticist) have identified a number of
pediatric and adult patients with mito disorders and antibody
deficiency.  Many of the issues with these patients are related to
autonomic nervous system dysfunction (temperature regulation, gut
dysmotility, chronic pain syndrome, fatigue).  

	

	They seem to have limited reserve in responding to infections
that is not responsive to Ig replacement.

	

	Joe Church

	Children's Hospital Los Angeles

	

	From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Boyce, Thomas
G., M.D.
	Sent: Tuesday, May 29, 2012 3:23 PM
	To: pagid at list.clinimmsoc.org
	Subject: [CIS-PAGID] 8 year old girl with mitochondrial disorder
and severe infections

	

	Do any of you see poorly characterized immune deficiencies in
patients with mitochondrial disorders? 

	This is an 8 year old girl born at 32 weeks' gestation who spent
5 weeks in the NICU with multiple chest tubes for chylous effusions and
pneumothoraces and mechanical ventilation for 14 days.  She had severe
bowel motility problems and is now TPN dependent.  She has neurogenic
bladder and has a vesicostomy.  She has a poorly characterized
mitochondrial disorder with complex deficiencies in the electron
transport chain. 

	Despite getting the inactivated influenza vaccine each year,
twice she has developed severe ARDS and DIC with influenza, first in
October 2009 and then in March 2011.  She will sometimes go into DIC
with other infections as well, such as line infections with coagulase
negative staph.  I measured her response to vaccine and she does make an
immune response to influenza vaccine (and the infection).  After the
second episode of severe complications associated with influenza, we
have placed her on oseltamivir for the duration of the local flu season.
This year she did not get influenza (although it was a very mild flu
year here).

	Most of her other infections are recurrent UTIs which are
presumably more anatomical in predisposition. 

	When she gets infection, she generally does not mount much of a
febrile response.  She also does not develop leukocytosis.  

	Her labs are as follows (not during an episode of DIC): 

	Hb 11.9 
	WBC 3.7 (1.92N, 1.45L, 0.22M, 0.12E, 0.03B) 
	PLT 78 
	ESR 3 
	CD3 1161 
	CD19 107 
	NK 146 
	CD4 503 
	CD8 478 
	H/S ratio 1.1 

	B cell subsets essentially normal. 
	CD4 RTEs were adequate 119 (38%) 

	Igs are normal (IgG is supranormal as she gets IVIG monthly for
autoimmune neuropathy) 

	Slightly decreased (but not absent) NK cell function. 

	Normal neutrophil oxidative burst. 

	Normal lymphocyte proliferative response to PHA but no response
to tetanus toxoid. 

	Adequate tetanus and diphtheria serology (prior to starting on
IVIG). 

	Very poor response to polysaccharide pneumococcal vaccine
(postvaccination, she has titers >1.3 mcg/mL to only 6 of 23 serotypes).


	Her specific mitochondrial defect remains undefined.  She
clearly seems prone to severe manifestations of certain infections.  Are
there other investigations that might characterize her immune
susceptibility?

	Thanks. 

	Tom 

	Thomas G. Boyce, MD, MPH 
	Pediatric Infectious Diseases and Immunology 
	Mayo Clinic 
	Rochester, MN 55905 
	phone: 507-255-8464 
	fax: 507-255-7767 
	Boyce.Thomas at mayo.edu 

	
	
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