[CIS PIDD] [cis-pidd] How to differentiate complete and partial IFNGR2 defect in MSMD?

[CIS-PIDD]

Dear all

I need your opinion in this 2 year old boy.

Born to consanguineously married couple, he presented with disseminated BCG
infection at 6 months of age. He was treated with anti-mycobacterial drugs
and is currently doing fine.

Genetic testing was carried out -------- Homozygous mutation was noted in
IFNGR2 gene

(*chr21:34805081_34805090del c.782_790del p.Val261GlufsTer8*)


My concern is, how to proceed with the treatment?


I am aware that complete defect in IFNGR2 warrants HSCT, while partial
defect can be managed more conservatively.

How do you differentiate complete vs partial defects?

Is HSCT mandatory for all children with complete defect?

What is the preferred antibiotic prophylaxis in children with partial
defect?

Kindly provide your valuable inputs.

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
*http://www.pediatricimmunologist.in/
<http://www.pediatricimmunologist.in/>*

*Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar,
Bengaluru -560 092, Karnataka*
* (**Book appointment - 08043420100)*

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