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

[CIS-PIDD]

Dear Prof Grimbacher,

Thanks for the suggestions. I think the genetic analysis is reliable and
its from an accredited lab. Coverage was more than 95% for most of the
genes. More than 200 PID genes and overall more than 4000 genes are
covered.

Can you please throw more light on "het deletions". I will discuss with the
scientist at the genetic lab.


Regards


*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)*



On Fri, Jul 14, 2017 at 12:59 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> … How much do you trust this genetic analysis?
> I am surprised. What was the coverage? Where were the gaps? Have they
> looked for het deletions?
> Best, Bodo
>
> ****************************************
>
> Univ.-Prof. Dr. med. B. Grimbacher
>
>
>
> Scientific-Director
>
> CCI-Center for Chronic Immunodeficiency
>
> UNIVERSITÄTSKLINIKUM FREIBURG
>
> Tel.: 0761 270-77731  Fax: -77744
>
> Breisacherstraße 115, 79106 Freiburg
>
> bodo.grimbacher at uniklinik-freiburg.de
>
> www.uniklinik-freiburg.de/cci
>
> Von: <cis-pidd at lyris.dundee.net> on behalf of CIS-PIDD <
> cis-pidd at lists.clinimmsoc.org>
> Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net>
> Datum: Friday 14 July 2017 08:42
> An: CIS-PIDD <cis-pidd at lyris.dundee.net>
> Betreff: [cis-pidd] Can it still be a PID with negative genetic testing?
>
> 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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