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

[CIS-PIDD]

You can email me.


Sullivan, Kathleen MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363
sullivank at email.chop.edu<mailto:sullivank at email.chop.edu>



On Sep 25, 2017, at 3:24 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Thank you so much for all the wonderful information. May I please ask
who the contact person is at CHOP for these types of cases?

Thank you!


On 9/25/17, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
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.

Sent from my iPhone

On Sep 25, 2017, at 8:45 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto: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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