[CIS PIDD] [cis-pidd] Rib abnormalities in CGD !!!

Thu May 18 06:03:28 EDT 2017

Thanks for all the suggestions and inputs.

NBT and DHR were performed on fresh samples. I am too surprised with the
NBT and DHR results. I have asked for genetic testing with a panel that
covers both SCID/omenn syndrome and CGD.

I hope that shall settle the issue. Will update once I have the results

Thanks again

*Dr.Sagar Bhattad*
MD Pediatrics, DM Pediatric Clinical Immunology and Rheumatology (PGI, CHD)
*Giannina Gaslini Institute, Italy (Observership in Rheumatology)*
Consultant, Pediatric Immunologist and Rheumatologist, ASTER CMI Hospitals,
Bengaluru

*Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar,
Bengaluru -560 092, Karnataka*
* (**Book appointment - 08043420100)*

On Wed, May 17, 2017 at 9:26 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Sagar:
>
> This sure sounds like Omenn or maternal GVHD.  Some thoughts:
>
>
>
> Did you have to ship the specimens for the DHR and NBT?
>
> Get DHR on mother.
>
> Can you get testing for maternal cells in baby’s circulation?
>
> Consider skin biopsy for evidence of GVHD.
>
>
>
> Very challenging case, good luck.
>
>
>
> Joe Church
>
> Children’s Hospital Los Angeles
>
>
>
>
>
> *From:* cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] *On
> Behalf Of *CIS-PIDD
> *Sent:* Wednesday, May 17, 2017 7:37 AM
> *To:* CIS-PIDD
> *Subject:* RE: [cis-pidd] Rib abnormalities in CGD !!! (EXTERNAL EMAIL)
>
>
>
> Sorry for the typo error...
>
> CD3 is 58%
>
>
>
> DHR repeatef twice..... and is abnormal
>
> NBT is also abnormal.
>
>
>
> Will look for activation markers
>
>
>
> Thanks
>
>
>
> On 17 May 2017 8:01 pm, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> wrote:
>
> There are many features in this patient that seem unusual for CGD – might
> be worth repeating the DHR test.  There also seems to be a significant
> deficit of lymphocytes if you add CD3, CD19, and CD56 – perhaps some type
> of Omenn syndrome?  Have you looked at activation markers on T cells – MHC
> Class II etc?
>
>
>
> Prescott
>
>
>
> T. Prescott Atkinson, MD PhD, Professor and Director
>
> Division of Pediatric Allergy, Asthma & Immunology
>
> University of Alabama at Birmingham
>
> Tel: 205-638-6457
>
> Fax: 205-975-7080
>
>
>
>
>
> *From:* cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] *On
> Behalf Of *CIS-PIDD
> *Sent:* Wednesday, May 17, 2017 7:56 AM
> *To:* CIS-PIDD <cis-pidd at lyris.dundee.net>
> *Subject:* [cis-pidd] Rib abnormalities in CGD !!!
>
>
>
> Dear all
>
>
>
> I am Dr Sagar Bhattad, a clinical Immunologist at Bangalore, India.
>
>
>
> I need your expert opinion in the following case
>
>
>
> 4 months old boy
>
> Born of consanguineous wedlock
>
> Failure to thrive (birth weight 2.7 kg and at 4 months - 2.8 kg)
>
> Oral thrush
>
> Erythematous rash over trunk, face and limbs
>
> Loss of hairs over eyelids
>
> Hepatosplenomegaly, lymphadenopathy
>
>
>
> Investigations
>
> Absolute lymphocyte count - 3450
>
> Absolute eosinophil count - 9200
>
>
>
> CD3  33%
>
> CD19 23%
>
> CD56 10%
>
> CD4  26%
>
> CD8 7%
>
>
>
> IgG 568
>
> IgM 1094
>
> IgA  < 40
>
>
>
> IgE > 2500
>
>
>
> NBT - no reduction
>
>
>
> DHR - oxidative index 4.2 and control 102
>
>
>
> Abnormal NBT and DHR strongly suggest Chronic granulomatous disease
>
>
>
>
>
> *Other issues*
>
> Ribcage abnormality ------ bilateral several ribs look abnormal and are
> fused at places
>
>
>
> *Query*
>
> My clinical diagnosis in this child was *Omenn syndrome*. But abnormal
> NBT and DHR make me think of *CGD. *
>
>
>
> Can experts please opine on the diagnosis and the link with rib
> abnormalities
>
>
>
> Warm regards
>
> Sagar
>
>
>
>
>
>
>
>
>
>
>
>
>
>
> *Dr.Sagar Bhattad*
>
> MD Pediatrics, DM Pediatric Clinical Immunology and Rheumatology (PGI, CHD)
>
> *Giannina Gaslini Institute, Italy (Observership in Rheumatology)*
>
> Consultant, Pediatric Immunologist and Rheumatologist, ASTER CMI
> Hospitals, Bengaluru
>
>
>
> *Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar,
> Bengaluru -560 092, Karnataka*
>
> * (**Book appointment - 08043420100**)*
>
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