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

Wed May 17 10:32:42 EDT 2017

I would consider checking ADA levels in this setting

Jen Heimall, MD
Allergy/Immunology Attending Physician
Medical Director Day Medicine
Assistant Professor of Clinical Pediatrics
Perelman School of Medicine at University of Pennsylvania

The Children's Hospital of Philadelphia
3401 Civic Center Blvd
Philadelphia, PA 19104
215-590-2549 (p)
215-590-6849 (f)

________________________________
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: Wednesday, May 17, 2017 10:31 AM
To: CIS-PIDD
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] 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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