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

Fri Jul 14 22:07:35 EDT 2017

Thanks for the suggestions. We did look for genes involved in inherited
surfactant deficiency diseases and they were normal. In case small
deletions cannot be identified by routine sequencing, what is the way
forward? If Sanger sequencing needs to be done, what should be the target
genes? Performing Sangers on a large number of genes would be a very costly
affair and the family has to bear the cost (no insurance cover or
governmental support).

The biggest challenge at present is to decide on how long should I continue
IVIG infusions?

Kindly opine

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)*

On Sat, Jul 15, 2017 at 1:13 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Consider “primary” pulmonary diseases such as cystic fibrosis and
> surfactant deficiencies.
>
>
>
> Also, I don’t think small deletions or duplications will be readily
> identified with routine sequencing.
>
>
>
> Joe Church
>
> Children’s Hospital Los Angeles
>
>
>
> *From:* cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] *On
> Behalf Of *CIS-PIDD
> *Sent:* Friday, July 14, 2017 10:58 AM
> *To:* CIS-PIDD
> *Subject:* Re: [cis-pidd] Can it still be a PID with negative genetic
> testing? (EXTERNAL EMAIL)
>
>
>
>
>
>   "heterozygous"
>
>
>
> 2017-07-14 12:17 GMT-05:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:
>
> 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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> --
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