[CIS PIDD] [cis-pidd] Can it still be a PID with negative genetic testing?

[CIS-PIDD]

Dear all

I need the group's opinion in this tricky situation...



*8.5 months old boy*

*Current weight – 6.2 kg*


Normal delivery, no perinatal issues

*First admission* at 3 months – severe pneumonia –developed ARDS. He was
ventilated *for 32 days.*

Organisms isolated – pseudomonas (ET), acinetobacter (blood – hospital
acquired)

*Second admission* at 4.5 months – severe pneumonia – required oxygen
support for 8 days – H1N1 positive.


Gastro-esophageal reflux treatment – fundoplication done


*Third admission* at 6 months of age - Admitted with respiratory failure
and abdominal distension. Diagnosed with ARDS. Noted to have lower
esophageal perforation. Managed with gastrostomy. Ventilated for 15 days.
Organism –Pseudomonas (ET aspirate).


Also noted to have severe PAH and is on medical therapy for the same.


In view of repeated episodes of pneumonia and lymphopenia (ALC of 700 to
2000/mm3), possibility of immune deficiency (PID) considered.


Immunological work up ----

*IgG < 270*

IgA < 40

IgM  55

IgE 3.9



ALC – 1610 cells/mm3

T  51%,   B  41%      NK   3%

NBT  normal

DHR  normal

CD4   538/mm3

CD8   235/mm3


In view of recurrent infections and hypogammaglobulinemia, he was initiated
on IVIg infusions.


*Mutation testing for PID genes – revealed no mutation on NGS with a panel
> 4000 genes (covers all the genes for SCID, hyper IgM syndrome and other
well-known genes associated with PID). *



At present, he is 8.5 months of age and gaining weight. No infections for
the past 1.5 months. He is maintained on co-trimoxazole, fluconazole
prophylaxis and monthly IVIg infusions.



*Queries*

1)      Can it still be a PID with normal genetic study?

2)      Is it a newly described PID and not being covered in the panel?

3)      Can I confirm this is not a PID?

4)      How long do I continue IVIg infusions?
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
*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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