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

Fri Jul 14 13:57:33 EDT 2017

  "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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-- 
Saúl Oswaldo Lugo Reyes

Investigador en Ciencias Médicas
Unidad de Investigacion en Inmunodeficiencias
9° piso, Torre de Investigacion,
Instituto Nacional de Pediatria
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