[CIS PIDD] [cis-pidd] Baby with intestingal lymphangiectasia

Thu Jul 23 07:07:42 EDT 2015

So what is a good functional test for GATA2?
Genetics is not definitive to rule it outŠ clinic is very variableŠ
Yours, Bodo
****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
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bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

Von:  Nacho Gonzalez <nachgonzalez at gmail.com>
Antworten an:  CIS-PIDD <cis-pidd at lyris.dundee.net>
Datum:  Wednesday 22 July 2015 23:32
An:  CIS-PIDD <cis-pidd at lyris.dundee.net>
Betreff:  Re: [cis-pidd] Baby with intestingal lymphangiectasia

Dear all,

Despite WES for GATA2, keep in mind that intronic mutations are not detected
in this way

BW

Nacho  

El 22/7/2015 23:15, "Pere Soler Palacin" <psoler at vhebron.net> escribió:
> Dear all, in our experience, PLE (both post-Fontan and primary
> lymphangiectasia) remain free of infections and vaccine response is usually
> normal despite very low IgG levels. However, we have decided to put them all
> on IV or SC Ig therapy since no clear clinical evidence on how to manage this
> patients is available as far as I know and cases with serious infectious
> complications have been described. We only start cotrimoxazole when CD4+ count
> is below 250/mm3 or 15% depending on patients' age.
> In my opinion, I'd not worry about IgA values since the patient is only 18 mo
> of age. Since lymphedema is described in GATA-2 deficient patients I would
> check his monocyte count.
> Besides, would you consider putting all our data on PLE patients from an
> immunological point of view to shed some light on that field?
> 
> Hope this helps.
> 
> Best,
> 
> Pere
> 
> Pere Soler Palacín, MD, PhD.Pediatric Infectious Diseases and
> Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron    Assistant
> Professor. Universitat Autònoma de Barcelona (UAB)
> Pg. de la Vall d'Hebron, 119-129
> 08035 Barcelona. Spain.
> Tel. 0034934893140 <tel:0034934893140>   /  Fax 0034934893039
> <tel:0034934893039>
> psoler at vhebron.net  /  34660psp at comb.cat
> Web: www.upiip.com <http://www.upiip.com/> ORCID ID:
> http://orcid.org/0000-0002-0346-5570 <http://orcid.org/0000-0002-0346-5570>
> Scopus Author ID: http://www.scopus.com/authid/detail.url?authorId=55923378300
> ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin
> LinkedIn: http://es.linkedin.com/pub/pere-soler-palac%C3%ADn/73/918/b16
> 
> No imprimir aquest correu ajudarà a preservar el medi ambient.
> Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau
> notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut.
> Està prohibida la distribució no autoritzada del contingut d'aquest missatge.
> 
> No imprimir este correo ayudará a preservar el medio ambiente.
> Si usted no es el destinatario del mensaje, o lo ha recibido por error,
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> 
> 
> 
> 
> De: "Jennifer Heimall" <heimallj at email.chop.edu>
> Per: "CIS-PIDD" <cis-pidd at lyris.dundee.net>
> Enviats: Dimecres, 22 de Juliol 2015 22:07:11
> Assumpte: RE: [cis-pidd] Baby with intestingal lymphangiectasia
> 
> 
> In our cohort of post-Fontan PLE patients we have an median IgG level about
> 200, but the 95% range does dip under 100mg/dL.
> 
> In the setting of no infections, I would not start immunoglobulin replacement,
> but would monitor closely and have a low threshold to start if under 150mg/dL
> and becoming symptomatic with infections.
> 
> Agree that if going to use it would use SubQ
> 
> Jen
> 
> 
> Jennifer Heimall, MD
>  The Children's Hospital of Philadelphia
> Medical Director Day Medicine
>  Allergy/Immunology Attending Physician
> 3550 Market Street
>  3rd Floor
>  Philadelphia, PA 19104
> 215-590-2549 (p)
> 215-590-4529 (f)
>  
> 
> From: Joshi, Avni Y., M.D. <Joshi.Avni at mayo.edu>
>  Sent: Wednesday, July 22, 2015 4:00 PM
>  To: CIS-PIDD
>  Subject: RE: [cis-pidd] Baby with intestingal lymphangiectasia
>  
> Hi Joe,
> Have you ruled out Emberger syndrome(?GATA2)?
>  
> Thanks,
> Avni
>  
> Mayo Clinic
>  
> 
> From: Church, Joseph [mailto:JChurch at chla.usc.edu]
>  Sent: Wednesday, July 22, 2015 2:31 PM
>  To: CIS-PIDD
>  Subject: RE: [cis-pidd] Baby with intestingal lymphangiectasia
>  
> Thanks, All.  
>  
> IF I were to try Ig it would be via SC route.  But should I even try in a
> patient with no infections?
>  
> Richard:  
> I think the reason this kid has no IgA is because she is losing so much Ig via
> her gut.  An IgG of 83 is pretty darn low for a protein losing process.  We
> see a fair number of PLEs secondary to Fontan heart procedures, and they
> usually aren¹t this low.
>  
> Our lab does not normalize mitogen preps for lymphocyte counts.  So, I¹m not
> too worried about her T-cells.
>  
> Regarding ticks vs fleas vs both, we will continue to watch her carefully.
>  
> JC
>  
> From: Richard Wasserman [mailto:drrichwasserman at gmail.com]
>  Sent: Wednesday, July 22, 2015 12:16 PM
>  To: CIS-PIDD
>  Subject: Re: [cis-pidd] Baby with intestingal lymphangiectasia
>  
> 
> Joe,
> 
> Why is there no IgA? That concerns me a little. Most of the PLE's do pretty
> well without supplementation. Does your lab normalize mitogen result for
> lymphocyte count? I'd hate to give her two problems but while most dogs have
> ticks OR fleas some have ticks AND fleas.
> 
> Richard Wasserman
> 
> Dallas
> 
>  
> 
> On Wed, Jul 22, 2015 at 1:28 PM, Nacho Gonzalez <nachgonzalez at gmail.com>
> wrote:
> 
> Dear Dr. Church,
> 
>  
> 
> the last 2 XLA patients I have seen recently were under the first year of
> life. They had poor vascular access... every IVIG infusion was a pain. Now
> they are under SCIG and doing fine. But going back to your patient, I do not
> think she needs IgG replacement therapy if she is free of infections.
> 
>  
> 
> Best regards,
> 
>  
> 
> Luis Ignacio Gonzalez-Granado
> 
> Immunodeficiencies Unit
> 
> Pediatric Hematology & Oncology Unit
> 
> Hospital 12 octubre
> 
> Madrid. Spain
> 
>  
> 
> 2015-07-22 20:19 GMT+02:00 Verbsky, James <jverbsky at mcw.edu>:
>> 
>> Not sure if this will work as well in teliangiectasia but in other PLE states
>> subQ has been beneficialŠmight be tough in an 18mo..but it¹s a thought
>>  
>> james
>>  
>> 
>> From: Church, Joseph [mailto:JChurch at chla.usc.edu]
>>  Sent: Wednesday, July 22, 2015 1:08 PM
>>  To: CIS-PIDD
>>  Subject: [cis-pidd] Baby with intestingal lymphangiectasia
>> 
>>  
>> Colleagues:
>>  
>> I have consulted on an 18 month-old girl with intestinal lymphangiectasia and
>> unilateral lymphedema.  She has experienced no infectious complications.
>>  
>> However, labs demonstrate
>>             Serum albumin 2.3 g/dL
>>             IgG      83 mg/dL
>>             IgA      <7 mg/dL
>>             IgM      27 mg/dL
>>             Tetanus antibody 0.49 IU/mL (considered protective)
>>             Haemophilus influenzae antibody 0.48 mcg/mL (considered
>> unprotective)
>>             Pneumococcal antibody response to Prevnar 13 positive (>1.3
>> mcg/ml) for 10 of 12 serotypes tested.
>>             CD3+ 46% (1399/mcL)
>>             CD4+ 14% (328/mcL)
>>             CD8+ 46% (1113/mcL)
>>             CD19+ 24% (590/mcL)
>>             NK 16% (391/mcL)
>>             PHA and PWM responses decreased (~ 25% of concurrent control)
>>  
>> The child is clearly losing protein, immunoglobulins and T-cells (CD4+ >
>> CD8+), but has fair circulating antibody responses to tetanus toxoid and
>> conjugated pneumococcal vaccine.
>>  
>> I would appreciate your opinions regarding immunoglobulin replacement
>> therapy.
>>  
>> Joe Church, MD
>> Children¹s Hospital Los Angeles
>>  
>>  
>> 
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> --
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