[CIS PIDD] [cis-pidd] Heterozygous MALT1 mutation

[CIS-PIDD]

T reg and transitional B cells?
IL2 Production? P65 phosphorylation?
This could help you decide whether to pursue the MALT mutation.
Best wishes, Stephan

Von meinem iPhone gesendet

Am 09.05.2017 um 21:21 schrieb CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>:

Hello everyone,
I would like your advice regarding a 23yo F who was diagnosed with Hyper IgE syndrome at the age of 1.

Her history is significant for eczema and atopy throughout childhood.  At age 22 she developed what was ultimately determined to be a herpetic infection (biopsy proven) on her face, neck and chest.

T, B and NK cell numbers are normal. T cell mitogens were normal.  Vaccine serologies were positive.  I haven't done pneumococcal testing.
IgE = 14,363 kIU/L (normal is <160)
She didn't have the typical Job's facies etc.  I sent genetics and it came back positive for:
 - a heterozygous mutation in MALT1
-  a heterozygous mutation in CIITA

My questions are:

1) Homozygous MALT1 mutations have been shown to cause a hyper IgE syndrome.  Has anyone seen patients with heterozygous mutations present with symptoms?
2) Could the CIITA mutation be contributing?
3) I am thinking about trying omalizumab.  Any thoughts?

Many thanks in advance.

Jennifer Grossman
Hematologist
Alberta Health Services

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