[CIS PIDD] [cis-pidd] Cystic fibrosis and autoimmune cytopenias

Mon Jul 17 09:14:48 EDT 2017

Dr. Gambineri:

My rouge thoughts, if you will ...

#  How confident are the pulmonologists about the CF diagnosis?  An 11 y/o without “major clinical concerns” re: CF per se is sort of out of the ordinary.  (Either the pulmonologists are really good, or the patient very lucky)
#  I agree that hyPERgammaglobulinemia is more expected with CF than hyPOgammaglobulinemia.  The kid has something.
#  Are the episodes of leukopenia and thrombocytopenia associated with antibiotic therapy?  The penicillins (particularly piperacillin/tazobactam) are notoriously associated with marrow toxicity.   (see Reichardt et al., Infection 1999)
#  Has she recently had sputa (+/- blood) checked for acid-fast bacilli?  Disseminated mycobacterial infection could also cause marrow suppression.
#  The one case of thrombocytopenia with CF that I could find in the literature is Thomassen et al., Clin Case Rep Rev 2016.  They diagnosed a 14 y/o F with CF (delta F508/F1303K) with Shwachman-Diamond (heterozygous VUS at V43L).  Incidentally (or, maybe not??)  SBDS and CFTR are both in the same arm of chromosome 7.  Not that close, though.
#  Absent further information (and a broader workup), I would be too much of a wuss to use anything beyond IVIG.

Good luck with the case.

  -  Karl

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Scientist II and Assistant Director, Center for Infectious Disease and Immunology
RGH Research Institute | Rochester General Hospital | Rochester Regional Health
1425 Portland Ave., Rochester, NY   14621
Tel  585-922-3709  |  Fax  585-922-2415  |  Email  karloliver.yu at rochesterregional.org

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Monday, July 17, 2017 8:42 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] Cystic fibrosis and autoimmune cytopenias

Any comments? suggestions?

Thanks very much!

Eleonora

On 16 Jul 2017, at 14:00, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear all,

I would really appreciate your advice regarding a 11 y/o girl whom I was asked to consult about leucopenia (WBC 2000/ul N 30% L 30% Eo 24%) and ITP (60.000/ul).

She is affected by a mild form of Cystic Fibrosis with no major clinical concerns so far. She experienced already ITP at age 2 y/o that responded partially to 5 courses of IVIG (plt up to 70.000-100.000). She had a new episode at age 7 and only recently she has started to suffer of leucopenia as well. Lymphosubsets appeared to be normal (except NK-2% of total lympho (1100/ul) v.a. 25/ul). Ig 754/IgA 34/IgM 74 mg/dl. DNT cells are mildly elevated 2.7%. Autoimmunity screening is negative  (ANA, ENA, anti-DNA…), but she has a positive DCT without evidence of anaemia so far (Hb 12 g/dl). No elevated CRP or ESR. TSH is mildly elevated (6.5 mcUI/ml n.r. 0.85-4) with normal T3 and T4 (autoantibodies not tested). EBNA/VCA IgG positive, IgM negative.
Clinical examination was unremarkable. Spleen at costal margin. Mild LC lymphoadenopathy.

We still need to complete the diagnostic W/U (IgE, vitB12, AI screening, complete B-T cell phenotype…), however my questions are:

- Can CF be associated with autoimmune cytopenias? My CF colleagues do not have experienced anything like that. They say CF patients might have hypergamma and mildly positive autoantibodies possibly for the chronic antigen stimulation of IS, but without clinical evidence of autoimmunity. I did a Pubmed search, but I haven’t found anything…

- Can it possibly be another associated condition? Unfortunately I don’t have details on her CFTR genetic mutation. I know the gene is in Chromosome 7…maybe I should look if there are other interesting genes nearby possibly affected?

- Main concern: how do I treat her? I am a bit concern to put her on steroids or MMF or sirolimus given the underline condition.

Any experience or advice is more than welcome!

Thanks in advance!

Eleonora

——————————————————————————————————————
Eleonora Gambineri, MD
Researcher/Assistant Professor

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

Department of Haematology-Oncology: BMT Unit
"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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