[CIS PIDD] [cis-pidd] Hyper IgM CD40L

[Boyce, Thomas G., M.D.]

?cryptococcus



> On Oct 5, 2014, at 2:43 PM, Anardi Agosto-Mujica <anardi at agostomedical.com> wrote:
> 
> Hello, 
> 
> We have a 14 y/o boy just diagnosed with Hyper IgM, CD40L mutation (T254M) was found. He presented with cryptosporidium in a lymph node biopsy, had ag titer of 1:1025 and positive spinal tap. Besides the lymphadenopathy (started Dec, 2013) he has been healthy, no infections except for a pneumonia with sepsis at 11 y/o. Ig's were all low, IgG <50, IgA< 14, IgA <20 and IgM 600 and low NK cells.  Has been on amphotericin and flucytosine x 6 nweeks now. Repeat spinal at 2 weeks was negative, but although titers decreased to 1:512, they are up again. 
> 
> 1.  Now that the spinal is negative, stable otherwise, is there a better way to decide continuation of induction besides following the crypto ag? I understand is not that reliable, but is what ID is using to decide if he will continue induction to 10 weeks and adding interferon. Stool crypto PCR?
> 
> 2. Where can I refer this patient for further evaluation including possibility of bone marrow transplant?
> 
> Thank you very much!
> 
> Anardi Agosto-Mujica, MD
> Allergy and Immunology
> San Juan, Puerto Rico
> cel: 787-403-3611
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The CIS-PIDD listserv is supported by the Clinical Immunology Society
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