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

[CIS-PIDD]

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

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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; e.gambineri at meyer.it
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