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

[CIS-PIDD]

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> 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>
>> 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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