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

[CIS-PIDD]

Dr. Bhattad:

I would suggest directly contacting either/both Dr. Steven Holland in the NIH and Dr. Jean-Laurent Casanova at Rockefeller University (New York) / Howard Hughes Medical Institute.  Both are the bigger names in the IL-12/IFN-gamma axis defect field.

Ahem … I suspect one would say transplant now … another may say to try IFN-gamma therapy     ;-)

In terms of bridging therapy,  I suggest that the child would need non-tuberculous mycobacterial prophylactic therapy at a minimum.  Whether or not the child would need TB prophylaxis would depend on his risk factors (e.g., if kid lives with grandma, who is coughing regularly, then DEFINITELY).  For the former, the standard would be azithromycin long-term.  If this would be given for > 1 month, I would be more careful in the potential side-effects (QT prolongation, hearing impairment due to toxicity, etc.)  For the latter, isoniazid or rifampin is standard of care.  Follow LFTs regularly.

Good luck with the case.

       - Karl

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Scientist and Assistant Director, Center for Infectious Diseases and Immunology
RGH Research Institute | Rochester General Hospital | Rochester Regional Health
1425 Portland Ave., Room R-403, Rochester, NY   14621
Tel  585-922-3709  |  Fax  585-922-2415





From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Monday, October 23, 2017 9:46 AM
To: CIS-PIDD
Subject: [cis-pidd] How to differentiate complete and partial IFNGR2 defect in MSMD?

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/<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.pediatricimmunologist.in_&d=DwMFaQ&c=ZcS_IThVDLRgSnibLQVJ9vwqRPpc3RkFqvJL1VfvJu0&r=SS5WX_zJKFGQt9gnWxXM2zj3mGuaCrOGfogIF4rsPm06T2ggGCIyqTpu8I8GvD7y&m=RYbNgunGwNmHnS1QXA0RGj82WXh7mdOUsNrFC-Upg5o&s=k_pHZLFjOMV3eCJbKweJduTekM_uo84174WM0LOL_BU&e=>
Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar, Bengaluru -560 092, Karnataka
 (Book appointment - 08043420100)




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