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

[CIS-PIDD]

My experience with kabuki and autoimmune disease is not good.  In fact the adult deaths I have seen have been related to autoimmunity.  Andrew Lindsley has a nice paper out looking at the B cells and based on that you might get think about rituximab, but my own experience in general is that the prognosis is poor.  I hope you prove me wrong!!

Kate Sullivan
Sent from my iPhone

On Mar 16, 2016, at 9:24 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:




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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