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

Fri Jul 14 15:43:27 EDT 2017

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<mailto: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/
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<mailto: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<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci<http://www.uniklinik-freiburg.de/cci>

Von: <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Friday 14 July 2017 08:42
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto: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/
Aster CMI Hospital, No 43/2, International Airport Rd, Sahakara Nagar, Bengaluru -560 092, Karnataka
 (Book appointment - 08043420100)

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