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

[CIS-PIDD]

This does not sound like CGD and fits more with some sort of Omenn syndrome. The high IgM and absent IgA male gender make NEMO a possibility.

Ashish
Ashish Kumar, MD, PhD
Associate Professor of Pediatrics
Director, Langerhans Cell Histiocytosis Center
Director, Pediatric Hematology/Oncology Fellowship Program
Cincinnati Children's
3333 Burnet Avenue, , Cincinnati, OH 45229

[https://www.cincinnatichildrens.org/-/media/295b830c6eb94ee2b662c61a2945e5e6.ashx?h=67&w=200]<https://www.cincinnatichildrens.org/>

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Wednesday, May 17, 2017 10:32 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net>
Subject: RE: [cis-pidd] Rib abnormalities in CGD !!!

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] 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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