[CIS PIDD] [cis-pidd] Advise on a patient with Kabuki Syndrome-CVID and ILD

[CIS-PIDD]

Hi Eleonora

We have a patient with Kabuki (we sequenced the KM2TD gene to confirm) that has biopsy-proven GLILD. We put him on RTX/AZA protocol -he is not quite 6 months out from starting Rx--we typically re-image and get complete PFTs after the second course of rituximab, so we won't have that data for another month or so but on H/P he is remarkably improved. Much better exercise tolerance and no side effects to the immunosuppression.

As you note, MMF alone is not effective in your patient and this has been my experience as well (using AZA, MMF, cyclosporin, TAC and RTX as single agent Rx over the years). However, we have had a consistently excellent response with AZA/RTX and now have Rx well over 40 patients. We have substituted MMF  in situations where patients could not tolerate AZA or 6MP or due to a null TPMT genotype and it works great as well. Hope this info is useful
good luck and let me know if I can be of help

Jack

John M. Routes, MD
Chief, Section of Allergy and Clinical Immunology
Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics
Department of Pediatrics
Children's Hospital of Wisconsin
Medical College of Wisconsin
9000 W. Wisconsin Ave.
Milwaukee, WI  53226-4874
Phone: Office 414-266-6840
Fax: 414-266-6437
Email: jroutes at mcw.edu<mailto:jroutes at mcw.edu>

From: CLINICAL IMMUNOLOGY LISTSERV <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Organization: Universita' degli Studi di Firenze
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Wednesday, March 16, 2016 at 7:23 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Cc: CLINICAL IMMUNOLOGY LISTSERV <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Subject: [cis-pidd] Advise on a patient with Kabuki Syndrome-CVID and ILD




Dear all,

I would like to ask you an advice on a 18 y/o patient affected by Kabuki syndrome with autoimmunity (mainly AIHA) and dysgammaglobulinemia (due to impaired B cell developmend and isotype switching which is found in Kabuki). He is basically behaving as a CVID with elevated IgM, low IgG and absent IgA. He is on weekly scIg. He is also on MMF with good control of autoimmune cytopenias.
He was recently admitted for an episode of low blood oxygen concentration while he was well being. He did lung CT scan that showed imaging compatible with ILD. His BAL is full of inflammatory cells and low copies of EBV (600/ml). His CD4 counts are normal (few naive).
I have seen recent publications from Charlotte on pulmonary radiological findins in CVID patient and I think he fits the ILD cohort (he also has elevated monocytes at CBC).Surely he will need a lung biopsy to confirm the suspect.

I have looked at treatment options and I have seen that this condition improves on steroids, however he has a severe osteoporosis and I would like to avoid this option. Based on literature other options might be CsA, azathioprine, Rituximab...He is already on MMF, but apparetly is good to control the cytopenia, but not the lung condition. Do you use other IS drugs? Sirolimus?

I would really appreciate your inputs.

Best wishes,
Eleonora
*******************************************************************
Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662738(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>
********************************************************************



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