Abstracts AB17

J ALLERGY CLIN IMMUNOL

VOLUME 137, NUMBER 2

Omalizumab and Severe Alergic Asthma : Assessment

after 1 Year of Treatment

Rita Aguiar, MD, Ana M. Mendes, MD, Ana Celia Costa, MSc, Fatima
Duarte, MD, Estrella Alonso, Anabela Lopes, MD, Elisa Pedro, MD,
Manuel Pereira-Barbosa; Hospital de Santa Maria - Immunoallergology
Department, Lisbon, Portugal.
RATIONALE: Omalizumab is associated with improvement in asthma
symptoms and quality of life in patients with severe asthma. Our aim is to
evaluate clinical improvement and quality of life of patients treated with
omalizumab in our Department.
METHODS: Patients with severe asthma under Omalizumab treatment
for 12 months were included. They signed informed consent and responded
to the questionnaires: ACT (Asthma Control Test), CARAT (Control Test
Asthma and Allergic Rhinitis) and AQLQ (Quality of Life Questionnaire
on Asthma). FEV1 was evaluated at T0 and T12. Data were analyzed using
SPSSversion 17, p-value <0.05 was considered significant.
RESULTS: 31 patients were included: average age of 36 years-old, 22
females, all non-smokers. At T12, 16 patients (51.6%) obtained a ACT
score of 25 (fully controlled asthma); 13 patients (42%) a CARAT score of
24 and 22 pts (71%) a score> 8 in the sum of the items 1-4 of CARAT (good
control of upper airways). The AQLQ average score was 6.4 (high quality
of life) with symptoms domains presenting the lowest scores. Inferential
analysis showed that quality of life of patients was significantly influenced
by the level of asthma control.
16 patients (51.6%) showed an increase in FEV1 and 15 maintained
overlapping values at T0 and T12. FEV1 at T0 was an average of 1.96 6
0.80 L/min, 73%of predicted and 2.10 6 0.82 at T12, 77% of predicted (p
5 0.04).
CONCLUSIONS: Our data showed that omalizumab is associated with a
good asthma control, improvement in lung function and high quality of life.

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Use of Rituximab in Late Onset Leaky SCID

Diana X. Nichols-Vinueza, MD1,2, Hung S. Luu, MD2,3, Norberto Rodriguez Baez, MD1,2, Yadira Rivera-Sanchez, MD1,2, Kenneth S.
Chen, MD2,4, Lee-Jun Wong, PhD5, Hui Yu, PhD6, M. Teresa De La Morena, MD7,8; 1Department of Pediatrics, 2University of Texas Southwestern
Medical Center Dallas, TX, 3Department of Pathology Childrens Health,
4
Center for Cancer and Blood Disorders Childrens Health, 5Department
of Molecular and Human Genetics, Baylor College of Medicine, Houston,
TX, 6Baylor Miraca Genetic Laboratories, Houston, TX, 7The Division of
Allergy and Immunology, 8Department of Pediatrics and Internal Medicine, University of Texas Southwestern Medical Center Dallas, TX.
RATIONALE: At 9 years, a female with hypogammaglobulinemia, was
diagnosed with EBV-encoded RNA (EBER) positive interstitial granulomatous lymphocytic lung disease in the setting of generalized lymphadenopathy and hepatosplenomegaly. Clinical improvement was noted after
rituximab.
METHODS: Severe-Combined-Immunodeficiency (SCID) comprehensive panel by Massively Parallel Sequencing was performed by Baylor
Miraca Genetic Laboratories, Houston, TX.
RESULTS: The patient had been diagnosed with common variable
immunodeficiency after recurrent sinopulmonary infections and one
episode of septic arthritis at 4 years and treated intermittently with
intravenous immunoglobulin. At 9 years of age, she was noted to have
failure to thrive, transaminitis, cholangitis, lymphadenopathy, hepatosplenomegaly, bronchiectasis and pulmonary nodules. IgG <140 mg/dL, IgA
<25 mg/dL, IgM 130 mg/dL; CD3 74%/2831 cells/mL, CD4 43%/1658
cells/mL, CD8 22%/837 cells/mL; NK 8%/309 cells/mL and CD19 17%/
667 cells/mL; Normal response to phytohemagglutinin, pokeweed mitogen
and tetanus. No mutation in activation-induced cytidine deaminase was
detected. Lung biopsy demonstrated granulomatous lymphocytic interstitial lung disease with scattered EBER+ cells; lymph node biopsy showed
an atypical lymphoid hyperplasia but rare EBER+ cells and liver biopsy

showed portal and lobular hepatitis with granulomas and few EBER+ cells.
Blood EBV PCR detected at 29038 copies /ml. She received Rituximab and
azathioprine. Pulmonary nodules and HSM markedly improved. 1 year
later B cells had not recovered. At age 11 years genetic testing revealed a
novel homozygous variant in RAG1 (c.1514T>G; p.L154R).
CONCLUSIONS: As previously described, children with hypogammaglobulinemia and granulomatous lesions merits genetic testing for leaky
SCID, independent of age. Rituximab therapy may provide clinical benefit
in patients with leaky SCID in the setting of lymphoproliferation and EBV.

52

Anti-GAD65 Positive Stiff-Person Syndrome: Novel

Association with Common Variable Immune
Deficiency

Jack G. Ghably, MD1, Mark Guido, MD2, Sara Atwater, MD2, Guha
Krishnaswamy, MD, FAAAI, CC-D, ABIHM3; 1University of Alabama
at Birmingham, Birmingham, AL, 2Wake Forest Baptist Medical Center,
3
Wake Forest Baptist Medical Center, Winston Salem, NC.
RATIONALE: Stiff-person syndrome (SPS) is a rare neurological disorder characterized by progressive muscle stiffness, rigidity, and painful
spasms affecting the axial muscles eventually impairing ambulation.
Majority (60%) of SPS patients are found to have autoantibody targeting
glutamic acid decarboxylase (GAD), an enzyme involved in synthesis of
GABA neurotransmitter. Some cases are idiopathic or neoplasm-related
with no antibody detected. In recent studies, serum containing high titer
anti-GAD65 antibodies induced motor dysfunction in rats, suggesting
antibody functionality. SPS is known to be associated with various other
autoimmune conditions (notably type 1 diabetes mellitus) but association
with a primary immune deficiency disorder has not been described.
METHODS: Here we report a case of a middle aged female patient with a
history of common variable immunodeficiency well managed on subcutaneous immunoglobulin (SCIG) therapy who subsequently developed
stiff-person syndrome. EMG findings were indicative of SPS and she tested
positive for GAD65 antibodies.
RESULTS: Her SPS symptoms responded to treatment with clonazepam
and later levetiracetam. The patient was placed on higher doses of SCIG
and her symptoms were greatly ameliorated and physical functionality
restored.
CONCLUSIONS: More studies of neurological complications of PID and
their management are essential.

SATURDAY

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