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

[CIS-PIDD]

Hi Elena, 

I definitely would pull the trigger. Some of the candidates you already list, others like NFKB1, MALT1, LRBA, TMEM173 spring to mind and have been published recently as articles or abstracts/posters.

For what it's worth, 

Mikko


Mikko Seppänen
MD, PhD, associate prof
Head, RD Center
Finland
 
 
  




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Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Lähetetty: 1. maaliskuuta 2017 7:36
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net>
Aihe: [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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