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

[CIS-PIDD]

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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