[CIS PIDD] [cis-pidd] Type 1 diabetes, autoimmune thyroiditis, and now inflammatory bowel disease-- related?

[CIS-PIDD]

Hi Elena
I would be inclined to get the WES- gof in stat3,  gof in stat1 would be on my list in addition to the ones below and those you mention. 
You might also  start to consider hct  as a treatment option especially if the tree flow is abnormal 
Jen

Sent from my iPhone

> On Mar 1, 2017, at 12:43 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Hi Elena,
> 
> you might as well consider CTLA4, LRBA and others...
> Given the broad possibilities of monogenetic causes and disease severity, I would consider WES.
> 
> Kind regards, Fabian
> 
> Dr. med. Dr. sci. nat. Fabian Hauck
> 
> Oberarzt / Leiter Immundefektambulanz und Immundiagnostisches Labor
> Kinder- und Jugendarzt / Kinderhämatologe und -onkologe / Fachimmunologe (DGfI)
> 
> Dr. von Haunersches Kinderspital
> Klinikum der Universität München 
> Lindwurmstr. 4, 80337 München
> 
> Tel.: (089) 4400-53931
> Fax: (089) 4400-53964
> E-Mail: fabian.hauck at med.uni-muenchen.de
> 
> 
> 
> Das Klinikum der Universität München ist eine Anstalt des öffentlichen Rechts (AöR)
> The Klinikum der Universität München is an Institution under Public Law
> 
> -----Ursprüngliche Nachricht-----
> Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
> Gesendet: Mittwoch, 1. März 2017 06:36
> An: CIS-PIDD
> Betreff: [cis-pidd] Type 1 diabetes, autoimmune thyroiditis, and now inflammatory bowel disease-- related?
> 
> Hi all,
> 
> I am writing to ask an opinion about a patient with multiple autoimmune/inflammatory pathology and possible relationship.
> 
> He is a 10yo boy with type 1 diabetes diagnosed ~ 1 year ago, autoimmune thyroiditis diagnosed ~6 months ago (positive anti TPO), and now admitted for recent onset of diarrhea with 12lbs weight loss, and electrolyte abnormalities, such as hypocalcemia.  PTH very elevated. No adrenal insufficiency. No liver or renal disease.  Interestingly, his T1D and thyroid disease were rather hard to control, until his recent onset of GI symptoms.  His GI biopsy showed colonic crypt apoptosis, with some eosinophils in the ileum.  He had an appendectomy during this hospitalization for appendicitis and it showed crypt architecture abnormalities, but also crypt accesses concerning for IBD.  No granulomas, with focal transmural inflammation.
> 
> Fairly benign infectious history, no CMC.  Oddly, started to develop eosinophilia, >1.5X10^9 on several occasions in the last two months.  No new meds started recently, no travel history, O&P pending.  Normal Vitamin B12, IgE level (a smudge high), and tryptase pending.  He has bradycardia which is perceived related to electrolyte abnormalities, though no echo done yet.  T/B/NK and immunoglobulin levels normal.  Tregs an TH17 (intracellular cytokine by flow) pending.  
> 
> Would you have concern for underlying immune dysregulatory syndrome? like STAT3 GOF? STAT5b? (I would not say he is terribly short) CD25 deficiency? would you pull the trigger on WES?
> 
> Thanks,
> 
> Elena Hsieh, MD
> Boettcher Investigator
> Assistant Professor
> University of Colorado Denver
> Children’s Hospital Colorado
> Department of Immunology and Microbiology Department of Pediatrics, Division of Allergy and Immunology
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