[CIS PIDD] [cis-pidd] 14 month old with Hypogamma

[CIS-PIDD]

The early onset IBD center at CHOP sees many such patients.  The strongest predictors of a monogenic immune deficiency are the small bowel pathology, age of onset and abnormal flow cytometry.  We would do whole exonerated sequencing because the monogenic defects often have a very different treatment approach.

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> On Sep 25, 2017, at 8:45 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Good Morning,
> 
> My colleague asked me to post a case of a 14 month Middle Eastern
> female who has chronic diarrhea. Has had the diarrhea for approx 6
> months however they have been gradually improving. Diarrhea does not
> occur at night, 3x a day.  No bleeding assoc with the diarrhea and no
> relationships to food or medications.
> 
> Parents are not related by blood
> The child was hospitalized for FTT, vomiting, diarrhea and was found
> to have CMV hepatitis.  EGD/colonoscopy was done which showed diffuse
> disaccharidase deficiency with no evidence of CMV enteropathy.  But
> found have non specific colitis on sigmoidoscopy.
> 
> US abdomen is normal. Patient was on TPN and is currently on Elecare
> 26 cal. She received 2 doses of IVIG because she was found to have low
> IgG and they wanted to see if it would help with her illness at the
> time.
> She did have CDiff x1, and treated with Flagyl. She has also had RSV,
> UTI and this all has been happening since 3 months old. Only 1 OM in
> her lifetime. No PNA, no sinusitis, no abscesses, no cellulitis, no
> thrush. She did need IV Abx when she was hospitalized. No issues with
> her skin teeth or nails. She sweats. No family history
> FT, Vaginal, no complications. Breastfed. Normal NBS. No miscarriages
> 
> IGA 31
> IGM 27 (LOW)
> IGE 8
> IGG 164 (post IVIG about 6 months)
> C4 21
> CH50 65 (HIGH)
> NK CELL FUNCTION Normal
> Electrolytes are normal, except Potassium was elevated at 5.7
> Albumin 4.4 high
> ALT 105 (High)
> AST 75 (HIGH NORMAL 0-75)
> DIPTHERA AND TETANUS ARE PROTECTIVE (BUT POST IVIG)
> PNEUMOCOCCALS POST IVIG are all <0.3, except one is 0.4 and one is 0.8
> (out of 23 titers)
> 
> CBC was elevated absolute LCs 9.5, Mono 1.4 and Eos 0.7
> Nomral H/H
> WBC elevated at 17.4
> Platelets high normal 441
> 
> FLOW CYTOMETRY: Abs CD19 is normal 1378 but the % is low 14.5 (15-39%)
> CD3 abs is elevated 7581 (1600-6700)
> % cd3 79.8% (54-76%)
> Absolute CD4 3487 (1000-4600)
> CD4% 36.7 (31-54)
> Absolute CD8 is elevated at 3943 ( 400-2100)
> CD8% 41.5 (12-28%)
> CD4/CD8 ratio is 0.88 LOW
> Abs CD56/16 456 (200-1200)
> Patient has Type O blood and there were no Antibodies produced to A or
> B on isohemagluttin testing
> 
> HIV RNA PCR and DNA PCR pending. Mitogen pending
> 
> Any additional thoughts and recommendations and diagnoses are appreciated.
> Thank you
> Pam
> 
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