2012 AAAI Conference Report
Susan Jennings, PhD
The Mastocytosis Society Research Committee Co-Chair
The 2012 American Academy of Allergy Asthma and Immunology (AAAAI) Conference was the third
AAAAI conference I have attended with TMS. It was an amazing experience on multiple levels, from the
standpoint of a mast cell disorder (MCD) patient, as a scientist interested in MCDs and especially as a
representative of TMS. Attending this conference allowed me to update my knowledge during
numerous informative medical and scientific presentations and gave me the opportunity to meet and
interact with specialists, including many of those in the field of mast cell disorders. It was also wonderful
to have time to discuss our society’s activities and projects with other TMS representatives and to enjoy
their company.
Scientific Presentations
The program and abstracts from this conference can be found at http://annualmeeting.aaaai.org/.
Some sessions were also videotaped, and the “virtual annual meeting” CD can be purchased at that
website as well. The online conference program indicates which sessions are included in the virtual
meeting with a purple triangle containing a “V”. Although more information on the presentations will be
reported in a future TMS Chronicles article, here is some information on those related to MCDs:
Three seminars, which are specialty discussion sessions limited to a small number of attendees for an
additional fee, but are not included in the virtual meeting CD, were related to MCDs: Diagnosis and
Management of Mastocytosis (#2508 in the AAAAI conference program), presented by Drs. Cem Akin
and Benjamin Soule; Office-Based Assessment of Patients with Suspected Monoclonal Mast Cell
Disorders (#3514), presented by Drs. Melody Carter and Arnold Kirshenbaum; and Surrogate Markers of
Mast Cell Activation (#4014), presented by Drs. Joshua Boyce and Melody Carter.
An exciting plenary session, titled Anaphylaxis in the New Millennium (#4101, included in the AAAAI
virtual meeting CD), consisted of three presentations where MCDs were discussed. This session was
very exciting because it took place in a hall with possible seating for 2000 people and many of the seats
were full, so a very large number of conference attendees learned about mastocytosis, related mast cell
disorders and mast cell activation during very interesting talks by top specialists in their fields. Dr.
Stephen Galli’s talk was titled Pathophysiology of Anaphylaxis: New Concepts. Dr. Dean D. Metcalfe
presented Clinical Aspects of Mast Cell Dysfunction. Dr. F. Estelle Simons spoke on Risk Factors for
Severe and Fatal Anaphylaxis. Especially interesting was data presented by Dr. Metcalfe regarding
abnormal gene expression patterns in mast cells grown from cells taken from patients with idiopathic
anaphylaxis (IA). These cells were derived from CD34+ (cell surface marker on cells from which mast
cells develop) cells of patients who did not have the KIT D816V mutation. The IA patients’ mast cells also
displayed a growth advantage and a hyperactive phenotype as compared to mast cells derived from
normal donors. This data indicates that abnormal mast cells (unrelated to the KIT D816V mutation) may
develop in some patients with IA.
A very well attended (standing room only, with roughly 220 people present) symposium on Mast Cell
Activation Syndromes (#4303, also on the meeting CD) was held an hour after the plenary session
mentioned above. It seemed that attendees of the plenary session were interested in what they heard
and wanted to learn more! The general feeling I got was that there was a significant increase in doctors’
interest in this area this year and that physicians are now starting to pay more attention to the idea of
mast cell activation (MCA). There were quite a few questions from physicians at the end of this session.
The recent publication of a consensus proposal regarding MCA (1) may have been especially helpful in
gaining the doctors’ attention in this area. Presentations in the Mast Cell Activation Syndromes session
were Mast Cell Activation Syndrome: Symptoms and Presentation by Dr. Mariana Castells,
Differentiating Idiopathic Anaphylaxis from Mast Cell Clonal Disorder by Phillip Lieberman, and Mast Cell
Surface Markers for Activation and Clonality by Dean D. Metcalfe.
The session on mastocytosis, this year a Question & Answer Workshop titled Anaphylaxis and
Mastocytosis: The Spectrum of Clonal and Non-Clonal Systemic Mast Cell Activation (#5712, thankfully
included in the virtual meeting CD!), was scheduled at the very end of the AAAAI conference, when most
of the conference attendees had already left. Due to this scheduling, the session was not well attended,
with roughly 20 people present. The session was, however, extremely interesting, with some very
exciting data presented. One benefit to this late session timing, at least, was that I was able to spend
some non-rushed time speaking with a number of mast cell specialists who had also remained until the
end of the conference to attend this session. The talks included in this session were Mast Cell Activation
and Signaling Pathways by Dr. Dean Metcalfe, Immune Deficiency in Urticaria: New Molecular
Understanding by Dr. Joshua Milner, and Mast Cell Mediators: Release and Systemic Consequences in
Anaphylaxis and Mastocytosis by Dr. Melody Carter. Dr. Milner’s presentation was relevant regarding
mast cell disorders because he discussed the identification of a gene deletion that can lead to
temperature-sensitive mast cell activation in certain patients with cold urticaria (2).
AAAAI Mast Cell Disorders Committee Meeting
I was given permission to attend the AAAAI Mast Cell Disorders Committee meeting as a TMS
representative with Valerie Slee (this was wonderful because in the past, TMS has been allowed only
one representative to be present during this meeting). This committee, currently chaired by Dr. Dean
Metcalfe and comprised of MCD specialists, has as its purpose to “promote research, training and
education in mastocytosis and related disorders including abnormalities of mast cell activation.” The
doctors discussed new committee projects: 1) creation of drug use guidelines for MCD patients (related
to adverse effects); and 2) creation of a database of MCD specialists for referrals. They also discussed
various concerns, including the need for more funding for MCD research and for a mastocytosis working
conference, the decreasing number of labs conducting human MCD related research, problems
experienced by children with MCDs in schools and various options for aligning the MCD group with
other groups for increased visibility.
TMS/AAAAI Joint MCD Research Grant
TMS and the AAAAI are working together to create a joint MCD research grant, endorsed by the AAAAI
MCD Committee. The AAAAI Grant Committee supported supplementing (and possibly matching) funds
from TMS for this grant (approval by the AAAAI Board is still required, however). If approved, this grant
would be funded every year in order to have the intended impact on the field. Dr. Cem Akin will
coordinate between TMS and the AAAAI. A monetary level for this potential grant has not yet been
determined, but after AAAAI approval, the TMS Board of Directors will be presented with options for
funding levels so a final yearly financial commitment can be determined. TMS will be involved in
creating the grant criteria and a representative from the TMS Research Committee will be present at the
meeting where final decisions on grant recipients will be determined.
TMS Patient Survey Update
Drs. Cem Akin and Mariana Castells are reviewing the first TMS patient survey article and once we have
come to an agreement on wording, the paper will be sent to Dr. Peter Valent (also an author) for review
and approval. TMS is intending to submit an abstract related to this survey article for presentation of a
poster at the 2013 AAAAI conference to help draw attention to MCDs.
TMS Patient Survey Database
The TMS patient survey database is a treasure trove of information. We have already had a request from
a biotechnology company for access to the database. TMS is in the process of considering various
aspects related to such arrangements, including data licensing and prior filtering to remove any data
that could allow identification of specific patients.
National Mastocytosis/Mast Cell Activation Patient Registry Exploration
TMS recently considered applying for participation in the Global Rare Diseases Patient Registry and Data
Repository (GRDR), currently a pilot program of the Office of Rare Diseases Research (ORDR), National
Institutes of Health (NIH), but our organization could not commit to financially sustaining such a registry
beyond the two year pilot program, due to the excessive costs. However, the intention of this ORDR
program is to develop a system that will allow rare disease organizations to more easily create patient
registries in the future and will allow for integration with other registries and with tissue repositories for
improved research possibilities. During the AAAAI conference, I spent some time exploring options for a
potential national mastocytosis/mast cell activation patient registry. I spoke with Dr. Akin regarding this
and he said he would support TMS in any effort to create a national database. He suggested we look into
what the European Mastocytosis group has done with their patient registry. I also spoke with someone
from the US Immunodeficiency Network (USIDNET; www.usidnet.org) and they are willing to share their
experiences regarding how best to go about creating such a registry. According to their project
coordinator, the USIDNET registry was started in 2003 and currently contains information on roughly
3000 patients. They created their system by starting with the backbone of a similar registry from Europe
and worked with the NIH to set up the registry here in the United States. Funding included drug
company support. Their registry requires and currently has 3 full-time employees. $2 million was
suggested as a rough estimate of an appropriate amount of funds to ensure success of such a registry.
Although TMS does not currently have this level of funding available, we are exploring options for
creating an initial registry that could be expanded in the future as funding is acquired.
Increased Awareness of Mast Cell Activation Syndromes: There appears to be increased awareness
within the medical community that disorders of mast cell activation play a role in disease (including
mast cell activation syndromes and mastocytosis). Patients with mastocytosis can also suffer from mast
cell activation, as is stated in the new consensus proposal for mast cell activation syndromes (1). In fact,
in this proposal by mast cell specialists, mastocytosis patients with mast cell activation symptoms are
placed under the category of “primary mast cell activation syndrome”.
TMS Bylaws, our Mission Statement and the AAAAI Mast Cell Disorders Committee Purpose Statement
include the term “mast cell activation” in descriptions of the patient populations supported. At this
year’s AAAAI conference, as discussed above, there was much more discussion and awareness regarding
mast cell activation and I heard many comments from doctors about patients who they felt might
potentially have such a disorder and who were wondering how to help those patients. It was frustrating
to know that although TMS has information to help those physicians and their patients and advocates
for such patients, most physicians attending the conference were not likely aware of that fact and think
of us as an organization only for those with mastocytosis. TMS might want to consider incorporating
“mast cell activation” into the society name to better represent these disorders in the near future.
New Reference Material Ideas/Options for TMS
The International Gastrointestinal Eosinophil Researchers (TIGERS) placed a laminated handout of the
“TIGERS Summary of 2011 Eosinophilic Esophagitis Updated Consensus Recommendations” in the bags
of all attendees of the 2012 AAAAI conference. This is a great resource idea and since it is laminated,
doctors can easily keep it to use in their practice. TMS members attending the conference and Dr. Dean
Metcalfe, Chair of the AAAAI MCD Committee, all felt that creating such a resource for MCDs would be
very helpful.
The Food Allergy Network (www.foodallergy.org) has created numerous books for children and parents.
Their online shop lists various books related to what kids might experience in different situations
regarding their food allergies (for example when attending school). TMS may want to consider creating
additional MCD specific materials for children to help them cope with difficult experiences, as suggested
by Dr. Metcalfe.
1. Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, et al. Definitions, Criteria and Global
Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A
Consensus Proposal. Int Arch Allergy Immunol. 2011 Oct 27;157(3):215-25.
2. Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, et al. Cold urticaria,
immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan
26;366(4):330-8.