[CIS PIDD] [cis-pidd] Seeking advice on early and severe IBD

[CIS-PIDD]

Dear all,



I have a 2 year old male with past medical history of centronuclear myopathy (MTM1 gene mutation) s/p g-tube/nissen/hiatal hernia repair, s/p trach/vent dependent, hydrocephalus s/p VP shunt in 3/23/2014

Diagnosed with severe and refractory Crohns disease around 2 years of age, pancolitis, never true remission despite high dose steroids and high dose remicade.

He has had had otherwise a benign infectious history with only a few AOM and sinusitis

slightly low T,B, NK cells but normal naïve thymic emigrants, normal quantitative immunoglobulins.  He had normal mitogens

negative tetanus titer despite vaccination

One abnormal TLR assay (while sick and hospitalized)



He had genetic testing done through Emory Genetics laboratory

Early Onset Inflammatory Bowel Disease Sequencing Panel

which covers the following genes:

AICDA<http://www.omim.org/entry/605257>, BTK<http://www.omim.org/entry/300300>, CD40LG<http://www.omim.org/entry/300386>, CYBA<http://www.omim.org/entry/608508>, CYBB<http://www.omim.org/entry/300481>, DCLRE1C<http://www.omim.org/entry/605988>, FOXP3<http://www.omim.org/entry/300292>, HPS1<http://www.omim.org/entry/604982>, HPS4<http://www.omim.org/entry/606682>, HPS6<http://www.omim.org/entry/607522>, ICOS<http://www.omim.org/entry/604558>, IL10RA<http://www.omim.org/entry/146933>, IL2RA<http://www.omim.org/entry/147730>, LRBA<http://www.omim.org/entry/606453>, MEFV<http://www.omim.org/entry/608107>, MVK<http://www.omim.org/entry/251170>, NCF2<http://www.omim.org/entry/608515>, NCF4<http://www.omim.org/entry/601488>, PTEN<http://www.omim.org/entry/601728>, RET<http://www.omim.org/entry/164761>, SH2D1A<http://www.omim.org/entry/300490>, SLC37A4<http://www.omim.org/entry/602671>, STXBP2<http://www.omim.org/entry/601717>, TTC37<http://www.omim.org/entry/614589>, WAS<http://www.omim.org/entry/300392>, XIAP<http://www.omim.org/entry/300079>



            And no pathogenic variant was found.



Is there something else I am missing?

I would appreciate any thoughts.



Thank you very much



Hey Chong



Hey Jin Chong MD PhD
Assistant Professor of Pediatrics
Division of Pulmonary Medicine, Allergy & Immunology
Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
tel 412-692-7885
fax 412-692-8499


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