[CIS PIDD] [cis-pidd] Recurrent Sepsis Syndrome

Thu May 7 17:50:03 EDT 2015

Thank you for your suggestions.

The patient was evaluated by Dr. Pitlock about three years ago and the
studies were negative or normal.

He is not monocytopenic.

I am working on a mitochondrial evaluation.

Does the group think it would be helpful to measure cytokine when he is
well as a baseline and then at presentation? If so, which cytokines?

Thanks,
Richard Wasserman
Dallas

On Fri, May 1, 2015 at 7:29 AM, Kumar, Ashish <Ashish.Kumar at cchmc.org>
wrote:

> Richard,
> This may totally out of the ballpark, but since you mentioned infections
> and edema, and all these other weird things, GATA2 comes to mind. Look at
> the monocyte count and you'll know. I can't explain the seizures but
> everything else you described was present in my first patient with this
> disease, all due to systemic mycobacterial infection.
> Ashish
>
> Ashish Kumar, MD, PhD
> Cancer and Blood Diseases Institute
> Division of Bone Marrow Transplantation and Immune Deficiency
> Cincinnati Children's Hospital Medical Center
> http://www.cincinnatichildrens.org/bio/k/ashish-kumar/
>
> http://www.cincinnatichildrens.org/research/divisions/b/bone-marrow/labs/kumar/default/
>
>
> -----Original Message-----
> From: Boyce, Thomas G., M.D. [mailto:Boyce.Thomas at mayo.edu]
> Sent: Thursday, April 30, 2015 4:31 PM
> To: CIS-PIDD
> Subject: RE: [cis-pidd] Recurrent Sepsis Syndrome
>
> Richard,
>
> We have a patient with an undiagnosed mitochondrial disease who develops
> severe sepsis everytime she gets influenza.  We keep her on oseltamivir
> during the flu season.  She gets it on other occasions as well.  I will
> forward your case to Sean Pittock here and see if he has other thoughts as
> suggested by Mel.
>
> Tom
>
>
> Thomas G. Boyce, MD, MPH
> Pediatric Infectious Diseases and Immunology Mayo Clinic
> email: boyce.thomas at mayo.edu
> phone: 507-255-8464
> fax: 507-255-7767
>
>
> -----Original Message-----
> From: Mel.Berger at cslbehring.com [mailto:Mel.Berger at cslbehring.com]
> Sent: Thursday, April 30, 2015 1:42 PM
> To: CIS-PIDD
> Subject: Re: [cis-pidd] Recurrent Sepsis Syndrome
>
> I can't easily tie it all together, but have two suggestions:
>
> 1. Treat acute episodes with IL-1 or IL-6 antagonist
>
> 2. Repeat work up for dysautonomia- particularly antibodies to ganglionic
> acetylcholine receptors. Actually, I would suggest contacting Sean Pittock
> or Vanda Lennon at the Mayo clinic and get them to test for every neuronal
> antibody they have. They are describing new antibodies mediating Neuro
> syndromes almost as fast as we are defining new PID genes,
>
> Mel Berger
>
> Sent from my iPhone
>
> On Apr 30, 2015, at 12:28, Richard Wasserman <drrichwasserman at gmail.com
> <mailto:drrichwasserman at gmail.com>> wrote:
>
> Colleagues:
>
> I need help with a 23 yo male admitted for the 6th episode of culture
> negative sepsis syndrome since he had H1N1 pneumonia requiring mechanical
> ventilation about one year ago. The episodes are characterized by high
> fever but no focal findings. Hypotension develops in the first 24-36 hours
> and requires fluid resuscitation and pressors. Initial WBC ~4500 and left
> shifted. Increases to ~10,000 in the first few days. CRP increases to ~60.
> He is always treated with multiple antibiotics at presentation and blood
> cultures, fungal blood cultures, respiratory cultures and respiratory virus
> assays have been negative. He improves over three to five days and is
> discharged. The episodes are not temporally related (either before or
> after) to his IGIV.
>
> I apologize for the length of his history but he has had multisystem
> disorders that I don't understand and may stimulate a productive thought.
>
> Immunologic - At age 4, he an evaluation for recurrent infection (see
> below) that showed low normal immunoglobulin concentrations and poor
> response to pneumococcal polysaccharide vaccine.  After prophylactic
> antibiotics failed, he improved with IGIV. At age 14 IGIV was stopped and
> he deteriorated. Reevaluation showed hypogammaglobulinemia. IGIV was
> restarted and bacterial infections have been a minor, occasional problem.
>
> Infection - Chronic otitis as an infant evolved to recurrent sinusitis and
> conjunctivitis. Bacterial chest infections have been rare. There have been
> many episodes of Candida esophagitis related to steroid and antibiotic use.
> At age 14, he had a respiratory tract infection the resulted in symptoms
> that were only partially bronchodilator responsive. Hospitalization was
> prolonged. One year later, he developed parainfluenza 3 pneumonia and was
> hospitalized. At age 22, he developed H1N1 pneumonia and required
> mechanical ventilation. He has returned to baseline of limited activity
> tolerance.
>
> Respiratory - There is long standing cough, chest tightness and shortness
> of breath that responds partially to high dose bronchodilators and
> steroids. Cough worsens with minimal activity. Viral infections are the
> major trigger and recovery is prolonged. FEV1 has always been normal
> without bronchodilator responsiveness. Chest CT when he is not actively
> infected is normal.
>
> Neurologic - Partial complex and Jacksonian seizures with visual
> disturbances and additional minor motor components. At the onset, seizures
> were totally disabling with dozens of seizures per day. Uncontrolled
> seizures required intubation and drug induced paralysis on several
> occasions. During that time, he developed alexia that has resolved after
> about one year of intensive retraining in reading and writing. The
> patient's mother observed that his seizure frequency and severity improved
> after IGIV infusions. Neurologic problems have responded to high dose IGIV,
> pulse steroids and mycophenolate but not to infliximab or etanercept.
> Studies for autoantibodies associated with neurologic disease have been
> negative. Repeated MRI's have been completely normal.
>
> Peripheral edema - At age 14 he developed dependent peripheral edema that
> is partially responsive to diuretics. There is neither abdominal nor pelvic
> compression nor vascular disease on Doppler exam. His cardiologist and
> endocrinologist believe that the problem is neither cardiac nor endocrine.
> An evaluation for dysautonomia was negative.
>
> GI - Motility studies showed esophageal dysmotility, gastroparesis and
> atony of the descending colon. Diet is limited because of food allergy and
> multiple non-IgE mediated food intolerances and is supplemented with
> elemental formula. About 60% of calories are via TPN. Cholecystectomy at
> age 15, polyposis of the gall bladder.
>
> Renal - Hypertension and electrolyte wasting of unknown etiology.
>
> Endocrine - He was thought to have steroid induced adrenal suppression but
> a stimulation test performed after several years without prolonged steroid
> therapy showed no cortisol production. He is maintained with physiologic
> steroid replacement.
>
> Family history - he is an only child. Mother has SLE.
>
> Thank you,
>
> Richard
>
> --
> Richard L. Wasserman, MD, PhD
> DallasAllergyImmunology
> 7777 Forest Lane, Suite B-332
> Dallas, Texas 75230
> Office (972) 566-7788
> Fax (972) 566-8837
> Cell (214) 697-7211
>
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-- 
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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