[PAGID] reticular dysgenesis

[Chinen, Javier]

Dear all, 

We have in our service a 1 mo baby girl, with severe neutropenia (unresponsive to GCSF), normal lymphocyte counts, all B cells absence of T cells, and sensorineural deafness. Presented with omphalitis. No positive family history. BM aspiration shows absence of myeloid precursors and presence of erythroid and megakarioblastoid lineages. The working diagnosis is reticular dysgenesis. 
 I was wondering if anyone in this forum knows about research being done for this condition, and if there are any other thoughts regarding the diagnosis of this baby.
MUD HSCT is being pursued.
Thanks,

Javier




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