[CIS PIDD] [cis-pidd] HSCT for Nijmegen Breakge Syndrome

[CIS-PIDD]

Dear all,

I wrould very much appreciate your advice regarding a 9yo female patient diagnosed with NBS with moderate immunodeficiency, in whom we are considering HSCT.

Not much is published and the risk-benefits are not that straight forward, specially in a moderate immunodeficiency that is doing considerably well on IVIG  (see below).

I would like to know based on your experience, in which situations you would consider HSCT in NBS, and If so, what would be your recommended conditioning regimen.



Familiar history: one healthy sister (from different father). Parents are both healthy too. No other relevant information.

Personal History:
- She had been diagnosed of Nijmegen Syndrome when she was 6 year-old because of a microcephaly (without mental retardation) and an associated immunodeficiency.  DNA analysis revealed an homozygous 657del5 mutation in the NBN (Nijmegen breakage syndrome) gene. Both studied parents are carriers for this mutation.

- Infections: During the first 5 years of life, the patient suffered 3 pneumonias, needing admission to hospital without other kind of infections. During the last year, she has had 5-6 pneumonias (2-3 of them treated at the hospital; we were unable to access to any documentation about these episodes). No other bacterial or viral infections are reported. We suspect the presence of bronchiectasies (although no CT was performed because of radio-sensitivity in NBS). She started with IVIG one year ago without any other prophylaxis and she continues suffering lung infections despite of the immunoglobulin replacement.

- The most recent immune analysis  (28/06/2016) is summarized in the next table:





Result


Normal range


Lymphocyte count (cells/mm3)


1.300


1900-3700


LT CD4+ %


20


31-47%


LT CD4+ count (cells/mm3)


260


650-1500


LT CD8+ %


18


18-35%


B lymphocyte %


4


13-27


B lymphocyte count (cells/mm3)


52





IgG (mg/L)


10901 (under treatment)


6630-13700


IgA (mg/L)


161


346-1910


IgM (mg/L)


423


446-1960


Proliferative response


NORMAL





B /T Subsets


Normal distribution






- No malignancies by now
- No other medical problems



Laia Alsina, MD, PhD

Attending at the Allergy and Clinical Immunology Department
Hospital Sant Joan de D?u, Barcelona
Immunology Unit, Hospital Sant Joan de D?u-Hospital Cl?nic.
ORCID ID: http://orcid.org/0000-0002-3559-0018

[cid:1BB416C2-C295-4AD9-98DB-640C1F8EAFBD at Home][cid:D5A5BE1B-641F-465C-B43F-55C4017EC75B at Home]

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