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

[Church, Joseph]

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<mailto:Boyce.Thomas at mayo.edu>


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