[CIS PIDD] [cis-pidd] Opinion on GLILD

Tue Aug 1 14:13:25 EDT 2017

Dear Markus,

Thank you for your input. Yes, we excluded IPEX.
Regards,
Juthaporn

On Mon, Jul 31, 2017 at 10:08 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Dear Juthaporn,
> Sirolimus (or MMF) might be a good idea in this syndrome as both agents
> spare steroids and seem to work in many patients with LRBA-def/CHAI
> disease, at least in part. I am treating a 13yo with GLILD and AI cytopenia
> with sirolimus as single agent (plus SCIG for hypogamma) and the
> granulomata in the lungs resolved. Ultimately, however, ideally supported
> by a genetic diagnosis, I think I would at least search for a donor.
> Did you exclude IPEX? What's his IgE?
> Best
> Markus
>
> 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 <0043%20316%20385%2080215>|
> F. 0043 316 385 13717 | Secr. 0043 316 385 13485
> <0043%20316%20385%2013485> | sent from my mobile phone | please excuse
> typos and terseness
>
> Am 24.07.2017 um 17:37 schrieb CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:
>
> Juthaporn
> In my opinion, the presence of fibrosis on biopsy and a reduction of DLco
> (not sure how reduced) indicates that the GLILD is progressive and
> clinically relevant. The optimal choice for the treatment of GLILD is not
> known. Among the medications that have been used include steroids,
> TNF-blockers, abatacept (in LRBA or CTLA deficiency) and rituximab w either
> azathioprine or MMF. As we are a referral center for GLILD, we have seen
> numerous patients that have failed corticosteroids==we have seen that
> steroids may improve disease temporarily but it recurs w taper or cessation
> of steroids. In talking w some of my European colleagues, they apparently
> have had better luck w steroids. We currently use rituximab and either
> azathioprine or MMF (depending on TPMT genotype, presence of liver disease
> and ability to tolerate one or the other) and have induced stable
> remissions in most patients regardless of whether a monogenic cause was
> found including CTLA4 haploinsufficiency. The regimen has proven to be
> quite safe as well. Hope this is helpful. Good luck
> Jack
>
> John M. Routes, MD
> Chief, Section of Allergy and Clinical Immunology
> Professor of Pediatrics, Medicine, Microbiology and Immunology
> Department of Pediatrics
> Children's Hospital of Wisconsin
> Medical College of Wisconsin
> 9000 W. Wisconsin Ave.
> Milwaukee, WI  53226-4874
>
> Phone: 414-266-6061 <(414)%20266-6061>
> Fax: 414-266-6437 <(414)%20266-6437>
> Email: jroutes at mcw.edu
>
>
> On 7/24/17, 9:02 AM, "Cowan, Juthaporn" <jcowan at toh.ca> wrote:
>
>    The wedge biopsies from the RUL, RML, and RLL demonstrate similar
> histological findings, although more prominent in the lower love.
> Predominant findings are that of follicular bronchiolitis with occasional,
> scattered, mostly ill-defined, non necrotizing granulomata. Immunological
> stains demonstrate a reactive follicular lymphoid infiltrate with an
> admixture of both CD4, CD8, B lymphocytes. There appear to be a relatively
> paucity of plasma cells in relation to the degree of inflammation as
> demonstrated on cd138, kappa and lambda immunisations. No EBV EBER positive
> cells identified.
>    There are parenchyma fibrosis and nodules.
>
>    Thank you very much for your interest in this case. I am looking
> forward to hearing from you.
>    Juthaporn
>
>    Sent from my iPhone
>
> On Jul 22, 2017, at 3:35 PM, Routes, John <jroutes at mcw.edu> wrote:
>
>
> Please provide complete PFTs-also can you provide a better description of
> the CT findings
>
> Was there remodeling and/or fibrosis on lung bx?
>
>
>
> Sent from my iPhone and because I have fat fingers the message will likely
> contain misspelled words, poor punctuation and other errors.
>
>
> On Jul 21, 2017, at 3:29 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<
> mailto:cis-pidd at lists.clinimmsoc.org <cis-pidd at lists.clinimmsoc.org>>>
> wrote:
>
>
> Dear all,
>
>
> I would appreciate your input on a case of young man who is 35 years old,
> Caucasian, father of two healthy daughters.
>
>
> He has - recurrent sinopulmonary tract infections for years
>
>            - AIHA off and on 10 years ago but seems to stable now
>
>            - ITP in 2013
>
>            - Pulmonary nodules waxing and waning since 2007
>
>            - Hypothyroidism
>
>            - Cerebellar mass 2015 (pathology - small vessel
> angiitis/vasculitis with an associated parenchymal mixed inflammatory
> infiltrate, no neoplasm, no virus, fungus, AFB, bacteria or spirochetes but
> a single cell positive for EBV) Patient had diplopia with decreased motor
> strength of hand initially but gradually improving on his own. Mass still
> persists though.
>
>             - Chronic diarrhea, colon biopsy showed acute cryptitis and
> crypt abscesses with almost complete absence of plasma cells in colonic
> mucosa in 2016. Negative parasites.
>
>             - Splenomegaly
>
>             - IgG 1.2 g/L, IgA < 0.1 g/L, IgM 0.3 g/L -  on SCIG since
> 2015 and infection free
>
>             - Eczema - intermittent
>
>
> Genetic testing for CTLA4 (sanger) and LRBA negative. (A panel of gene
> testing was done at Dr. Rosenzweig's lab).
>
>
> He is quite well in general (only mild DLCO on pulmonary function test)
> but the most recent CT showed possible GLILD. Open lung Bx was pursued and
> confirmed GLILD.
>
>
> Questions
>
> 1. Should we treat his GLILD? If so, with what?
>
> 2. Even though we do not know the molecular cause of his phenotypes,
> should we do BMT since he is quite well now before he has more
> complications?
>
>
> Juthaporn Cowan MD, PhD, FRCPC
>
> Assistant Professor
>
> Division of Infectious Diseases, Department of Medicine
>
> Department of Biochemistry, Microbiology, and Immunology
>
> University of Ottawa & The Ottawa Hospital
>
> Associate Scientist
>
> The Ottawa Hospital Research Institute
>
> Tel 613-737-8899 ext 79617 <(613)%20737-8899>
>
> Fax 613-737-8352 <(613)%20737-8352>
>
>
>
> ---
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