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

Wed Jul 22 17:32:27 EDT 2015

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  /  Fax 0034934893039
> psoler at vhebron.net  /  34660psp at comb.cat
> Web: www.upiip.comORCID ID: http://orcid.org/0000-0002-0346-5570Scopus
> 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
>
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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 aren’t this low.
>
>
>
> Our lab does not normalize mitogen preps for lymphocyte counts.  So, I’m
> 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
> <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 beneficial…might be tough in an 18mo..but it’s 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
>
> Children’s Hospital Los Angeles
>
>
>
>
>
>
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> --
>
> Richard L. Wasserman, MD, PhD
> Allergy Partners of North Texas
> 7777 Forest Lane, Suite B-332
> Dallas, Texas 75230
> Office (972) 566-7788
> Fax (972) 566-8837
> Cell (214) 697-7211
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