[CIS-PAGID] 8 year old girl with mitochondrial disorder andsevere infections

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

Joe,
 
Interesting.  Anything published?  If not, and you would like to include
my patient, let me know.
 
Tom

________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Church, Joseph
Sent: Tuesday, May 29, 2012 5:29 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] 8 year old girl with mitochondrial disorder
andsevere 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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