[CIS PIDD] [cis-pidd] LRBA Question

Wed Jan 20 03:07:52 EST 2016

Dear Bodo

Thanks for that excellent advice. Really good suggestions. We'll keep you posted.

His parents are extremely difficult so HSCT isn't on the horizon at present.

Best wishes for 2016.

Cheers

John

___________________________
Professor John B. Ziegler, AM
Department of Immunology & Infectious Diseases
Sydney Children's Hospital
High St., Randwick NSW 2031
Australia
T: (02) 93821515
F: + 61 + 2 93821580
E: j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>

On 20 Jan 2016, at 6:50 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear John,
Please give abatacept at least 12 weeks time.
My patient had 10 stools in week 11 and 3 in week 13… strange, but from our rheumatology experience  it is known that abatacept is a rather slow-working drug.
But I added budesonide (3x3mg in the 48 kg adult).
You may also consider to use budesonide instead of the prednisolone?
In my experience adding probiotics does not hurt.
How about a stool transplant for the C.diff?
When is the right time to consider HSCT in this kid?
Best. Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci<http://www.uniklinik-freiburg.de/cci>

and

Consultant Immunologist
Institute of Immunity & Transplantation
Dept of Immunology
Royal Free Hospital
UNIVERSITY COLLEGE LONDON
Pond Street
London NW3 2QG
b.grimbacher at ucl.ac.uk<mailto:b.grimbacher at ucl.ac.uk>
www.centreforimmunodeficiency.com<http://www.centreforimmunodeficiency.com>

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Tuesday 19 January 2016 09:41
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: [cis-pidd] LRBA Question

Dear all,

We are writing to ask for an opinion about management of a patients of ours with genetically confirmed LRBA deficiency. This is a 6 year old boy of non-consanguineous Turkish parents who we diagnosed with LRBA deficiency on WGS last October. His problems have included autoimmune haemolytic anaemia, autoimmune thrombocytopenia, neutropenia, lung nodules, massive splenomegaly, lymphadenopathy, hypogamma with recurrent infections (mainly otitis media) and enteropathy.

We started him on abatacept in November 2015 and he seems to have responded well in terms of his cytopenias, splenomegaly and recurrent infection. But his enteropathy has continued and he has continued to have multiple episodes of watery diarrhoea per day and weight loss. More recently his abdominal pain and diarrhoea have worsened and a stool specimen was positive for C.Diff. We treated with 7 days of metronidazole and the C.Diff cleared but has since recurred. We are now planning on treating that with oral vancomycin. It a bit unclear how much his current bowel symptoms are related to the underlying enteropathy and how much the C.Diff is contributing.

Our question is, our Gastro colleagues have suggested giving him Saccharomyces cerevesiae as a probiotic to help with the C. diff treatment.  We are wondering what people think about the risks of that organism in the context of the LRBA deficiency and susceptibility to infection? We are aware that there have been reported cases of S.cerevesiae fungaemia in the context of PID. In addition to the abatacept he is on 5mg per day of oral prednisolone and was on TMP prophylaxis (started before the diagnosis was made) until this week when it was stopped in the context of the C. diff. Currently his neutrophil counts are normal as well as his lymphocyte counts. He is also receiving subcut Ig replacement therapy.

We would be very grateful for any help or advice with this case.

Kind Regards,

John Ziegler

Professor John B. Ziegler, AM
Department of Immunology & Infectious Diseases
Sydney Children's Hospital
High St., Randwick NSW 2031 Australia
T: (02) 93821515
F: + 61 + 2 93821580
E: j.ziegler at unsw.edu.au<mailto:j.ziegler at unsw.edu.au>

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