[CIS PIDD] [cis-pidd] LRBA and severe Thrombocytopenia with chronic CMV and EBV infection

Sun Jan 1 07:43:54 EST 2017

Dear Mehdi,
I agree with Laia and Bodo, considering a short course of high-dose prednisolone or dexamethasone (e.g. 3-5 days at 3-5mg/kg pred or 5-10mg/m2 dexa) to test responsiveness, probably followed by rituxan (varying protocols, e.g.  375mg/m2 weekly, 4 times) and/or sirolimus (plasma concentration 5-10ng/ml). People report good results with sirolimus in LRBA-def patients when abatecept is not available. TRA might be an option but probably not available either, and not first-line to induce remission in acute severe autoimmune cytopenia. BMT should definitely be considered, the indication probably depending on many factors, though (disease status, residual LRBA expression, donor availability, maybe also donor LRBA status).
Please send me an email from your direct email address so that I could send you an excel dataset for the IEWP/ESID/PIDTC LRBA clinical registry (SCT and non-SCT pts), if you are interested to include the patient.
Best regards, and a happy new year
Markus Seidel

Markus G. Seidel, M.D.
Professor of Translational Pediatric Hematology and Immunology | Div. of Pediatric Hematology-Oncology | Dept. of Pediatric and Adolescent Medicine | Medical University Graz | Auenbruggerpl. 34/2 | A-8036 Graz | Austria | T. 0043 316 385 80215| F. 0043 316 385 13717 | Secr. 0043 316 385 13485 |
Head of the Research Unit for Pediatric Hematology and Immunology |  Coordinator of the Working Group for Pediatric Immunology of the Austrian Society of Pediatrics and Adolescent Medicine

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> Am 29.12.2016 um 18:41 schrieb CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:
> 
> Dear All 
>  Thank you very much for your  great advice . 
> Please accept my best wishes of happy new year . 
> 
> Mehdi Al-Adeli ,MD 
> Doha -  Qatar
> 
> 
> From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>>
> Sent: Thursday, December 29, 2016 7:57 PM
> To: CIS-PIDD
> Subject: Re: [cis-pidd] LRBA and severe Thrombocytopenia with chronic CMV and EBV infection
>  
> Dear all,
> My experience is based on 1 patient with LRBA deficiency and Evans syndrome: I agree with previous comments:  steroids were only partially effective and short lasting. Rituxan followed by sirolimus has stabilized our patient. 
> 
> Best regards,
> 
> Laia Alsina, MD, PhD
> 
> Adjunta de la Secció d'Immunoal.lèrgia; Unitat Funcional d'Immunologia, Hospital Sant Joan de Déu-Hospital Clínic.
> Cap d'Estudis i Presidenta de la Comisió Local de Docència de l'Hospital Sant Joan de Déu, Barcelona. 
> http://orcid.org/0000-0002-3559-0018 <http://orcid.org/0000-0002-3559-0018>
> 
> 
> 
> El 29 dic 2016, a las 17:46, CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>> escribió:
> 
>> I agree, rituxan is preferable and that BM exam is appropriate. Could also consider use of either eltrombopag or Romiplostim. <>
>> R
>>  
>>  
>> --
>> Rob Sokolic, MD
>> Medical Officer      
>> 
>> Center for Biologics Evaluation and Research
>> Office of Tissues and Advanced Therapies
>> U.S. Food and Drug Administration
>> Tel: 240-402-5564
>> Robert.Sokolic at fda.hhs.gov <mailto:Robert.Sokolic at fda.hhs.gov>
>> <image001.png> <http://www.fda.gov/>
>> 
>> <image002.jpg> <https://www.facebook.com/FDA>  <image003.jpg> <https://twitter.com/US_FDA>  <image004.jpg> <http://www.youtube.com/user/USFoodandDrugAdmin>  <image005.jpg> <http://www.flickr.com/photos/fdaphotos/>  <image006.jpg> <http://www.fda.gov/AboutFDA/ContactFDA/StayInformed/RSSFeeds/default.htm>
>>  
>> The above transmission is meant solely for the addressee. The information contained in this message may be of a private, medical, privileged or industrial nature, and may not be communicated beyond the initial recipient. If you are not the intended recipient of this message or the agent of such recipient, please destroy all physical copies of this message, delete all electronic copies and notify the sender of the error.
>>  
>> This communication does not constitute a written advisory opinion under 21 CFR 10.85, but rather is an informal communication under 21 CFR 10.85(k) which represents my best judgment at this time, but does not necessarily represent the formal position of FDA, and does not bind or otherwise obligate or commit the agency to the views expressed. 
>>  
>>  
>> From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>] 
>> Sent: Thursday, December 29, 2016 4:35 AM
>> To: CIS-PIDD
>> Subject: Re: [cis-pidd] LRBA and severe Thrombocytopenia with chronic CMV and EBV infection
>>  
>> Dear Mehdi,
>> 
>> Only 2 patients: I tried RTX in two patients with LRBA def. (one AIHA and one ITP) and worked fine (cytopenias and splenomegaly solved). In the first patient a late relapse ended in splenectomy as response to RTX was too slow.
>> It seems to work, but be ready for retreatment
>> Hope this helps
>> Nacho
>> 
>> Luis I. Gonzalez-Granado. MD.
>> Immunodeficiencies Unit. 
>> Hospital 12 de octubre.
>> Research Institute Hospital 12 octubre (i+12)   
>> Av. Cordoba S/N. 28041. Madrid. Spain
>> Tel. 0034606732959 /  0034913908569  /  Fax 0034913908772 <tel:0034934893039>
>> luisignacio.gonzalez at salud.madrid.org <mailto:luisignacio.hdoc at salud.madrid.org>
>> ORCID ID:  orcid.org/0000-0001-6917-8980 <http://orcid.org/0000-0001-6917-8980>
>> Researcher ID: B-9257-2009
>> ResearchGate:https://www.researchgate.net/profile/Luis_Gonzalez-Granado <https://www.researchgate.net/profile/Luis_Gonzalez-Granado> 
>> LinkedIn:  https://es.linkedin.com/in/nachgonzalez <https://es.linkedin.com/in/nachgonzalez>
>>  
>> 2016-12-29 10:10 GMT+01:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>>:
>>  
>>  Dear Colleagues 
>>  
>>  I have a  7 years old male  patient  with LRBA deficiency  ,  Chronic CMV and EBV infection. 
>>  
>>  Developed severe thrombocytopenia  ( PLT : 1000 )  did not respond to high dose  IVIg ( 2  gm/kg)     in the last week , developed wet bleeding , received PLT transfusion .
>>  
>>  Other cell lines are within Normal range  except low ALC ( 1.5)  for years . His CMV PCR is 309  copies and EBV : 4000 copies ,   Val gancyclovir was stopped  last week  with no improvements  on PLT count. 
>>  
>> He was on Plaquinil (Hydroxy Chloroquien : 7 mg /kg/ day , but stopped by the family 2 months back .
>> Abatacept <https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&cad=rja&uact=8&ved=0ahUKEwi4pq-lg5nRAhUIIsAKHTkHAc8QFggZMAA&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FAbatacept&usg=AFQjCNGoIziW23fB8bVrpNH7JC-ULIR1_g&bvm=bv.142059868,d.d2s>  is not available  in  Qatar.
>>  
>> We will do Bone Marrow Aspiration before starting Corticoids .
>>  My questions: 
>>  
>> Any previous experiences in giving Rituximab? 
>> Which one is preferable Corticoids or Rituximab ?
>>  
>> Your kind advice is highly appreciated . 
>>  
>> Mehdi Adeli, 
>> MD, FAAAAI, FACAAI, FAAP, A.B.A.I, A.B.P
>> Sr. Consultant Allergy & Immunology 
>> Hamad Medical Corporation
>> Sidra Medical And Research Center
>> Tel (O) :( 974) 4439-0328
>> Mob : (974) /33429669.
>> Fax: (974) 4439-7857
>> E-Mail: madeli at hamad.qa <mailto:madeli at hmc.org.qa>
>> Web : http://aiap.hamad.qa <http://aiap.hamad.qa/>
>> Research Gate : http://www.researchgate.net/profile/Mehdi_Adeli <http://www.researchgate.net/profile/Mehdi_Adeli>
>> ORCID ID: http://orcid.org/0000-0002-3051-3080 <http://orcid.org/0000-0002-0346-5570>
>> Doha- Qatar 
>>  
>>  
>>  
>>  
>> From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>>
>> Sent: Thursday, December 22, 2016 10:39 PM
>> To: CIS-PIDD
>> Subject: Re: [cis-pidd] Severe recurrent sinusitis in a CVID pregnant women
>>  
>> I have used ATB combination in the past with success, I will certainly suggest this combination to her OB. Thank you very much, best regards
>>  
>> Alejandro Malbran
>>  
>> From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>>
>> Sent: Thursday, December 22, 2016 2:08 PM
>> To: CIS-PIDD
>> Subject: Re: [cis-pidd] Severe recurrent sinusitis in a CVID pregnant women
>>  
>> You could certainly increase her dose but, if she has had prolonged treatment with a beta-lactam, I would consider trimethoprim/sulfa (until 36 weeks) or clarithromycin. A nasal endoscopy may be helpful. 
>> Richard Wasserman
>>  
>> On Thu, Dec 22, 2016 at 10:35 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
>> Thank you very much for your answer.
>>  
>> Surgery once, five years ago. IgG levels right before IVIG infusion last  month. Pregnant, no CAT scan possible right now. She does reasonably well on rifampin / amoxicillin / clavulanate + nasal steroids + nasal washings. But now she is pregnant and I can not find an appropriate treatment for her. Would anybody increase the IVIG dose, would it be useful to use any nasal
>> medication (beyond mupirocin already done). What about nasal IVIG, any thoughts? Experience?
>>  
>> Alejandro Malbran
>>  
>> From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>>
>> Sent: Thursday, December 22, 2016 12:34 PM
>> To: CIS-PIDD
>> Subject: Re: [cis-pidd] Severe recurrent sinusitis in a CVID pregnant women
>>  
>> Has she ever had sinus surgery? When was her last sinus CT and what did it show? When was she last completely well? What was her IgG level at that time?
>> Richard Wasserman
>> Dallas
>>  
>> On Thu, Dec 22, 2016 at 9:15 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org <mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
>> Dear Sir,
>>  
>> I would greatly appreciate your input to treat a young lady, 16 weeks pregnant, with severe sinusitis. She does nasal washing and takes amoxicillin. Her IgG is 975, no IgA, IgM nor IgE. She is replaced every 4 weeks with 30 gr. Any suggestion is welcome.
>>  
>> Best regards,
>>  
>> Alejandro Malbran
>> ---
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>> 
>>  
>> --
>> Richard L. Wasserman, MD, PhD
>> Allergy Partners of North Texas
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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
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