[CIS PIDD] [cis-pidd] 22q11.2 del Syndrome from Mexico

Wed Nov 9 09:57:58 EST 2016

Thank you very much for your insight!

 We will look more in depth at the T-cell compartment and consider disseminated m. bovis/BCG-osis -  although aspirates/cultures/tissue stains, etc.  have all been negative in addition to the T-Spot test.

The most recent lymph node biopsy is being further reviewed with concern for histiocytosis.

Thank you again for your time and consideration!

Buddy Tierce

Millard L. Tierce IV, DO, MBA, MS, FACAAI, FAAP
Board Certified Allergy and Immunology
Board Certified Pediatrics

<http://www.texas>http://texasallergyexperts.com/
6310 Southwest Boulevard Suite 200
Benbrook, Texas 76109
817-731-9198
Fax 817-731-9199

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From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Monday, November 7, 2016 2:08 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] 22q11.2 del Syndrome from Mexico

You mentioned that TB was excluded, but I am wondering if disseminated BCG infection has been ruled out. The clinical picture and previous BCG vaccination could suggest disseminated BCG-osis. Also how TB was ruled out matters, since even in immunocompetent host Quantiferon would not turn positive due to BCG.

It might be a bit of stretch, but adjuvant effect of mycobacteria might be the etiology of her exuberant response to pneumococcal vaccination.

All the best,

Soheil Chegini, M.D.
Exton Allergy & Asthma Associates
656 West Lincoln Hwy.
Exton, PA 19341
Phone: (610) 269-3066
Fax: (610) 269-8615

________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Sent: Monday, November 7, 2016 2:25 PM
Subject: [cis-pidd] 22q11.2 del Syndrome from Mexico

Good afternoon - I am looking for any thoughts regarding a a 10mo old female that has a new diagnosis of 22q11.2 del syndrome and has been hospitalized for 2 months with continued respiratory issues, lymphadenopathy, and is now back in the ICU due to respiratory failure.

She was born and lived in Mexico until just prior to presentation at 8mo of age with respiratory distress in the first weeks of life, diagnosed with milk allergy due to difficulty feeding and recurrent emesis and cough, improved somewhat after switching to soy formula -  2 respiratory infections treated with antibiotics in first 8mo of life.  No contributory family history.

Initially admitted at 8mo of age with pneumonia and lymphopenia from an outside hospital.  Shortly after admission she was diagnosed with 22q11.2 del on FISH.  She had hypocalcemia, abnormal swallow study, facial nerve palsy, a small PFO on cardiac echo, and vertebral compression fractures .   After treatment for pneumonia, calcium stabilization, and G-button placement due to aspiration risk, she had acute worsening of respiratory status 3 weeks ago and was rhinovirus positive (continues with a positive PCR). She has been in and out of the ICU for respiratory decompensation, ongoing extensive lymphadenopathy (paratracheal, axillary, mediastinal), atalectasis and intermittent pleural effusion on CT with vacillating respiratory issues and persistent oxygen requirement over the last month.

All TB studies have been negative.  She is on TB treatment as well as bactrim and fluconazole prophylaxis.  Multiple investigations for infection - including TB (a positive PPD, but received BCG in MX), histo, coccidio, crypto, galactomannin, HIV, EBV, hemobartonella, blood cultures, urine cultures,  MRSA surveillance cultures .  Rhinovirus is only positive infectious marker - fevers off and on through hospitalization and empiric antibiotics.  Axillary lymphnode biopsy and FNA of mediatinal mass are "reactive lymph tissue" - polymorphous lymphoid tissue with scattered neutrophils.  Reviewed and evaluated by oncology with no concern for malignancy.

Labs at 10mo:
CD3+ - 465
CD4+ -425
CD8+ -30
CD19+ - 1030
CD16/56+ - 945
IgG - 892, M of 126, A <10
Dip 0.6 and Tet 7.4
Pneumococcal titers - all but 2 are greater than UPPER limit of detection (9V and 23F are 13.32 and 9.47 respectively)

Any suggestions regarding this case - other infections we should be looking for or thoughts of why she continues to decompensate?
Comments on the degree of lymphadenopathy (is this all rhinovirus or secondary to chronic aspiration syndrome?)
The compression fractures in this age group being attributed to hypocalcemia? - a case report of DiGeorge and vertebral compression fractures in literature
Facial paresis (normal MRI's)? - is this a different syndrome?
Why the seemingly hyper- response to pneumococcal vaccine?
Is 22q11.2 del syndrome the right diagnosis  (hypocalcemia, quantitative T-cell deficiency, dysmorphic ears (cupped appearance and posterior rotation), and feeding issues - chronic aspiration...) ... or should we look for other etiology of T-cell deficiency?

Thank you very much for any insight!

Millard L. Tierce IV, DO, MBA, MS, FACAAI, FAAP
6310 Southwest Boulevard Suite 200
Benbrook, Texas 76109
817-731-9198
Fax 817-731-9199

**This transmission is considered strictly confidential. This information is intended only for the use of the individual(s) to whom it is addressed.If you are the intended recipient, further disclosures are prohibited without proper authorization. If you are not the intended recipient of this message, you may not disclose, print, copy, forward or use this information in any way. If you have received this in error, please reply and notify the sender (only) and delete this message.If you are not the intended recipient, any disclosure, copying, printing, or use of this information is strictly prohibited and may be a violation of federal or state law and regulations.Unauthorized interception of this message is a violation of federal criminal law.

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