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

[Anardi Agosto-Mujica]

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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