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

Fri May 19 05:22:26 EDT 2017

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<mailto: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> [mailto: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<mailto: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> [mailto: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<mailto: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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