[CIS PIDD] [cis-pidd] Rib abnormalities in CGD !!!
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Sun May 21 01:53:25 EDT 2017
Dear Sagar
You need to check for G6PD too .
As severe G6PD may have abnormal DHR test .
Best
Mehdi Adeli,
MD, FAAAAI, FACAAI, FAAP, A.B.A.I, A.B.P
Sr. Consultant Allergy & Immunology
Assistant Professor Weill Cornell Medicine -Qatar
Pediatrics Department.
Hamad Medical Corporation
Sidra Medical And Research Center
Tel (O) :( 974) 4439-0328
Mob : (974) 6688 0048 /33429669.
Fax: (974) 4439-7857
E-Mail: madeli at hamad.qa<mailto:madeli at hmc.org.qa>
Web : http://aiap.hamad.qa
Research Gate : http://www.researchgate.net/profile/Mehdi_Adeli
ORCID ID: http://orcid.org/0000-0002-3051-3080<http://orcid.org/0000-0002-0346-5570>
[Untitled-1]
From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Friday, 19 May, 2017 4:45 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Rib abnormalities in CGD !!!
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<mailto: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<mailto:aisha_mars at hotmail.com>
________________________________
From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto: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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