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

[CIS-PIDD]

I am definitively not an expert, but have you considered about OL-EDA-ID (osteopetrosis+lymphoedema+ectodermal dysplasia+immunodeficiency) ? Do you have other x-ray findings? The rest of the CBC data? 

BW

Enviado desde mi iPhone

> El 17/05/2017, a las 07:56, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> escribió:
> 
> 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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