[CIS PIDD] [cis-pidd] diagnostic dilemma in infant with early onset IBD

[CIS-PIDD]

Hi all:



I am hoping to get diagnostic advice about a patient that Dr. Mark Ballow and I follow. He is a 2 year old Caucasian male with many anatomical abnormalities who presented with very early onset colitis and failure to thrive at about 6 months of age. He is profoundly small <<<1% for weight. Endoscopy and colonoscopy show: gastritis, duodenitis, ileitis, nodular hyperplasia, and colitis. No granulomas were visualized. This patient has profound diarrhea that is sometimes bloody. Calprotectin is always >200.



Anatomical abnormalities include:

Cloacal exstrophy of the urinary bladder

Imperforate anus

Polydactyly of the foot

Sacral agenesis





Chromosomal microarray was normal
ALC 6292, CD3 3757, CD4 2162, CD8 1196, CD56 949, CD19 1518
DHR  normal
IgG 696, IgA 36, IgM 74, IgE 9.16

FOXP3 expression by flow: normal

Normal NK cell function



An IBD panel was performed at Emory Genetics sequencing the following genes. No mutations were found in any.

ADAM17, AICDA, ATG16L1, BtK, C1orf106, CD40LG, COL7A1, CYBA, CYBB, DCLRE1C, DOCK8, ERAP2, FERMT1, FOXP3, FUT2, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IL10, IL10RA, IL18RAP, IL23R, IL2RA, IRGM, ITGAM, LRBA, MEFV, MVK, NCF2, NCF4, NOD2, PIK3R1, PLCG2, PTEN, PTPN22, RAC2, RB1, RET, SH2D1A, SLC37A4, STAT1, STXBP2, TTC37, WAS, XIAP.



Short of doing WES, is there any candidate genes that anyone suggests we look at or any additional testing that we should do?



Thanks and Happy New Year,

Jen Leiding

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