[CIS PIDD] [cis-pidd] Mastocytosis, CVID, or something else

[Nick Bennett]

Hi All,

I'm looking for help with a particularly difficult case.

Now 3yo I met him a year ago - many many allergy symptoms, recurrent
anaphylaxis to foods and environmental triggers. Diagnosis of FPIES with an
endoscopy/biopsy showing eosinophilia and mast cells in the GI tract (by
report, I've not seen that to confirm). He requires severe dietary
restriction and G tube feeds to maintain weight, and that at least is ok at
the moment (he had severe failure to thrive as an infant). He was unable to
tolerate anything except elemental food from about 4 months of age.
Interestingly his symptoms of anaphylaxis are typically hives plus a weird
"gagging" that he does. I've witnessed this and it's like his orophyarnx is
swelling and causing him to choke, but I don't see any outward swelling,
wheezing, hypotension etc. He will get very lethargic untill it is treated.

Multiple respiratory infections requiring antibiotics, CF workup negative.
Immune evaluation has previously revealed low Hib and pneumococcal titers
which responded to boosting, and then (when I saw him) had dropped off
considerably. I diagnosed him as a possible CVID with B cell memory issues
and started IVIG. From an infection standpoint that has improved things
quite a bit. He is very sensitive to the IVIG and is the only child I
currently have who I've seen throw off an anaphylactoid reaction
mid-infusion. For a while we second-guessed ourselves and stopped the IVIG,
but he got sick again so quickly it was restarted. Memory B cells on flow
about a year ago were 9.1%. The rest of his flow cytometry is otherwise
unremarkable, with normal total and precentages for CD4, CD8, CD4:CD8 ratio
and CD19 B Cells.

He continues to experience food and environmental allergies requiring the
use of epinephrine and antihistamines at times. IgE is only 100-150 when
we've checked it.

I revisited his story recently with his mother during one of the IVIG
infusions and wondered about mastocytosis. I started sodium cromolyn with
initially perhaps some improvement, but he since then had anaphylaxis again
to dog hair (a common trigger for him) and at that time tryptase was 2,
which I took personal offence to as it appeared to contradict my idea about
mastocytosis! This was several weeks into the cromolyn treatment so I had
expected some preventative effect if mast cell degranulation was the issue.

Any and all insight would be appreciated. He's been seen by folks at Boston
and Cincinnati already so some on this list may know him.

Cheers

Bennett


-- 

Nicholas Bennett MA(Cantab), MBBChir, PhD, FAAP

Assistant Professor of Pediatrics

Co-Director of Antimicrobial Stewardship

Medical Director, Division of Pediatric Infectious Diseases and Immunology

Connecticut Children's Medical Center,

282 Washington Street,

Hartford, CT 06106

Office Tel: +1 860 545-9490

Office Fax: +1 860 545-9371

Cell: +1 315 395-7876

Twitter: @peds_id_doc

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