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

Fri May 19 09:44:44 EDT 2017

Thanks Dr Aisha

I shall repeat DHR once the child is better. Also the genetic tests would
clarify the issue

Regards
Sagar

On 19 May 2017 2:52 pm, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> wrote:

> Dear Dr Sagar
>
>
> I had once a 4 m old girl (consanguineous parents) with Labs suggesting
> SCID and very defective DHR test as well.
>
> This patient was confirmed SCID: she had 3 homozygous RAG mutations:
>
> ·       *Molecular testing (Erasmus-2016): 3 homozygous RAG mutations – *
>
> o   *Homozygous RAG1 mutation: c.577G>a (p.Glu193Lys) – benign*
>
> o   *Homozygous RAG2 mutation: c.644C>T (p.Th215lle) – probably damaging*
>
> o   *Homozygous RAG2 mutation: c.686G>A (p.Arg229Gln) – probably damaging*
>
>
> We think our patient was a SCID patient. DHR is mentioned to be
> transiently abnormal during the course of a severe infection and reverts to
> normal thereafter. The patient died during her severe infection, allowing
> no chance to repeat DHR at another occasion.
>
> We had other patients with an abnormal DHR initially, but after resolution
> of the infection it reverted to normal. In our unit, we always confirm CGD
> diagnosed by DHR test by assessing NADPH oxidase component protein
> expression by flowcytometry.
>
>
> Aisha Elmarsafy
>
> Professor of Pediatrics/Chief of PID Unit
>
> Faculty of Medicine - Cairo University - Egypt
>
> Cell phone: +2 01223985147
>
> e-mail: aisha_mars at hotmail.com
>
> ------------------------------
> *From:* cis-pidd at lyris.dundee.net <cis-pidd at lyris.dundee.net> on behalf
> of CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
> *Sent:* Thursday, May 18, 2017 10:03 AM
> *To:* CIS-PIDD
> *Subject:* Re: [cis-pidd] Rib abnormalities in CGD !!!
>
> 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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