Allergy and Immunology Commons^™

Perioperative Anaphylaxis In A Healthy Adolescent After First Lifetime Surgery, Shayan Sazdar, Salman Aljubran

Posters

Introduction: Perioperative anaphylaxis is a rare life-threatening event. Its evaluation poses complex considerations inherent to the use of multiple medications. Patient presentation: A healthy 11-year-old boy developed anaphylaxis shortly after discharge home from first lifetime surgery for orchiopexy. Perioperative medications included rocuronium, propofol, fentanyl, bupivacaine, sugammadex, ondansetron, dexamethasone, dexmedetomidine, and ketorolac. No antibiotics. After surgery, he consumed fast food dinner and ice cream. Within 2 hours after discharge home, he returned to our Emergency Department (ED) with facial and tongue angioedema, hives, and respiratory distress. He received multiple doses of intramuscular epinephrine and briefly required epinephrine drip in the ED. …

Asthma Phenotypes And Control In 22q11.2 Deletion Syndrome: A Single-Center Retrospective Study, Cody Shopper, Katey Campbell, Nikita S. Raje

Posters

Background: Patients with 22q11.2 deletion syndrome have increased rates of atopy and immune dysregulation and may experience a higher burden of asthma; however, real-world data describing asthma control, severity, and treatment patterns in this population are limited. We hypothesized that asthma control and severity patterns in patients with 22q11.2 deletion syndrome differ from those observed in the general asthma population. Objectives/Goal: To characterize asthma control, severity, and treatment patterns among patients with 22q11.2 deletion syndrome and to compare observed patterns with those typically reported in the general asthma population. Methods/Design: We conducted a retrospective observational cohort study of patients with …

An Early Successful Hematopoietic Stem Cell Transplant (Hsct) For A Boy With Ipex Syndrome, Ali H. Alnajim, Salman Aljubran

Posters

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immunity. It affects about one in every 1.6 million people. It is caused by mutations in the forkhead box P3 (FOXP3) gene on chromosome Xp11.23. FOXP3 is a vital regulator of T cell development and function. Dysfunctional FOXP3 allows the hyperactivation of T cells, resulting in skin rash, enteropathy, diabetes, thyroiditis, hemolytic anemia, and thrombocytopenia. The classic clinical presentation is intractable diarrhea, growth problems, dermatitis, and autoimmune endocrinopathy. Case Description: A 4-week-old male was transferred to our hospital’s NICU due to respiratory distress and feeding difficulties. Neurology …

Elevated Tryptase Level Identifies A Case Of Hereditary Alpha Tryptasemia, Ali H. Alnajim, Salman Aljubran

Posters

Introduction Hereditary alpha tryptasemia (HaT) is a rare genetic disorder characterized by elevated serum tryptase levels due to duplication or triplication of the TPSAB1 gene. Affecting 6 to 8 percent of the population, HaT presents with diverse symptoms, including idiopathic anaphylaxis, skin rashes, and gastrointestinal issues. This report highlights a case that underscores the complexities and diagnostic challenges of HaT. Case Description A 4-year-old male presented with recurrent skin rashes and gastrointestinal symptoms following ingestion of certain foods, despite negative allergy tests. Persistent symptoms led to further investigations, revealing elevated tryptase levels of 10.3 ng/ml, 12.1 ng/ml, and 8.3 ng/ml …

Socioeconomic Differences In Penicillin Allergy Label Rates Of Children Evaluated In Pediatric Emergency Departments And Urgent Cares, Zoya Siddiqui, Brian R. Lee, Amanda Nedved, Jennifer Mckinsey, Frances Turcotte Benedict, Brandi Missel, Aarti Pandya, Rana El Feghaly

Research Days

In this retrospective study of 183,692 patients ≤19 years evaluated in urgent cares and emergency departments of a large pediatric academic center July 2022- June 2023, we found that in addition to race, socioeconomic status reflected by insurance and area deprivation index had a large association with penicillin allergy labels.

Treating Your Child's Springtime Allergies, Maggie Mckay, Jay Portnoy

Parent-ish Podcast

The warmer weather is here...but for some, along with it comes seasonal allergies that can make you child feel a little crummy. Dr. Jay Portnoy discusses the cause of seasonal allergies, the pollens and how you can help your child feel better so they can enjoy springtime.

Click here to stream the podcast episode.

Ada Deficiency: Improvement In Immune Function After Enzyme Replacement Therapy, Esosa Adah, Nikita Raje

Posters

Introduction: Adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) is characterized by severe lymphocytopenia affecting T-, and B-,lymphocytes, with non-immunological manifestations including neurodevelopmental deficits, sensorineural deafness, and skeletal abnormalities. Treatment modalities include enzyme replacement therapy(ERT) and/or autologous gene therapy or hematopoietic stem cell treatment. We report a 9-month-old female with ADA deficient T-B-NK+ SCID treated with ERT while awaiting stem cell treatment. Case Description: A 9-month-old female with a history of failure to thrive, hypotonia and loss of developmental milestones had genetic testing done that showed variants ADA c.911 T>G, c.302G>A. She was admitted for further work up. Lymphocyte …

Investigating The Association Between Mast Cell Activation Syndrome And Irritable Bowel Syndrome, Ishaan Jakhar, Maggie Urschler, Medha Singh, Suman Sahil, Hassan Ahmad

Posters

Investigating the Association between Mast Cell Activation Syndrome and Irritable Bowel Syndrome Introduction Mast Cell Activation Syndrome (MCAS) involves the inappropriate release of chemical mediators resulting in varied episodic symptoms. Irritable Bowel Syndrome (IBS) is a common functional abdominal disorder where mucosal immune alterations play a key role. Since mast cells function as gatekeepers for the intestinal interface, we examined what proportion of patients diagnosed with MCAS also had IBS along with comorbid risk factors. Methods All patients in our study were 18 years of age or older. We used Cerner Healthfacts to gather our cohorts of patients with MCAS, …

Evaluating Patients With Recurrent Fever And Elevated Igd, Thao Le, Nikita Raje

Posters

Introduction: Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) often presents within the first year of life. Symptoms include fevers, chills, headache, lymphadenopathy, and abdominal pain. Patients may be misdiagnosed as other autoinflammatory syndromes, resulting in delay of treatment. Case: A 16-year-old female presented for evaluation of recurrent fever. Her fevers started at two months of age, occurred one to two times a month, and were associated with headache, abdominal pain, and fatigue . At 18-months, she was diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA). She was treated with prednisone and an adenotonsillectomy but her fevers persisted. . At …

Evaluating A Newborn Infant With Pancytopenia For Whim Syndrome, Shayan Sazdar, Thao Le, Nikita Raje

Posters

Introduction Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency caused by a gain-of-function mutation in CXCR4. A complication of WHIM syndrome is severe neutropenia, which can result in fatal bacterial infections. Given the rarity of the disease and variability of clinical presentations, WHIM syndrome can be difficult to diagnose and manage. Case Description A full term male infant was hospitalized for hypoxic ischemic encephalopathy after delivery. Physical exam was unremarkable. During his hospitalization, he was found to have progressive pancytopenia. Initial lymphocyte subsets showed a significant T cell lymphopenia of 1325 mm3 CD3+, 920 mm3 CD4+, 390 …

The Evolving Landscape Of Immunotherapy For The Treatment Of Allergic Conditions., Aarti Pandya, Esosa Adah, Bridgette Jones, Rachel Chevalier

Manuscripts, Articles, Book Chapters and Other Papers

Allergic conditions, such as asthma, chronic urticaria, atopic dermatitis (AD), and eosinophilic esophagitis, have long been treated with oral and topical steroids which resulted in negative off-target effects. However, newer biologic medications are increasingly being developed and approved for treatment of these conditions. These medications have a variety of mechanisms of action to target pathophysiology specific to these diseases. As biologics become more targeted, fewer off-target effects are seen improving tolerability for patients as well as expanded options for treatment of these conditions. This review discusses monoclonal antibody therapies (omalizumab, mepolizumab, reslizumab, benralizumab, dupilumab, tezepelumab, and tralokinumab) including their safety …

A Case Of Dock8 Deficiency Treated With Dupilumab, Melissa Anderson, Brandon D. Newell, Hugo Escobar, Erin Stahl, Nikita Raje

Research Days

Background: Dedicator of cytokinesis 8 gene (DOCK8) deficiency is an immune disorder associated with autosomal recessive hyper-IgE syndrome, characterized by elevated IgE levels, atopic dermatitis, and predisposition to recurrent skin and lung infections.

Objectives/Goal: A 12-year-old male presented to Immunology clinic for DOCK8 deficiency. He was diagnosed in infancy due to diffuse papulopustular eruption positive for candidiasis and known family history. Past medical history included severe eczematous dermatitis, asthma, interstitial lung disease, food allergies, and poor growth, with cutaneous HSV and fungal infections, HSV keratitis, and MRSA bacteremia. Family history was notable for two siblings with DOCK8 deficiency, both deceased. …

Clinical Course Of A Patient With Agammaglobulinemia Caused By Slc39a7 Defect, Thao Le, Emily Farrow, Alvin Singh, Isabelle Thiffault, Nikita Raje

Posters

Case Report: A 10-year-old unimmunized boy initially presented to the hospital at 18-months of age with pneumonia and failure to thrive. He had multiple infections including Escherichia coli urosepsis, viral croup, chronic otitis media with bilateral ruptured tympanic membranes, and bacterial pneumonia. On physical examination, he was ill appearing and had diffuse crackles. His laboratory work-up showed leukocytosis, normocytic anemia, undetectable immunoglobulin (Ig) G, A, and E, low IgM (28 mg/dL), absent B cell with normal T cell (7800 mm3) and NK cell (527 mm3) counts, and low zinc level (63 mcg/dL). Genetic testing was negative for Bruton tyrosine kinase …

Real-World Experience Of Pediatric Patients Treated With Peanut (Arachis Hypogaea) Allergen Powder-Dnfp., Jay M. Portnoy, Jodi Shroba, Stephen Tilles, Hela Romdhani, Sarah M. Donelson, Dominick Latremouille-Viau, Rebecca Bungay, Kathleen Chen, William Mccann

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Peanut (Arachis hypogaea) allergen powder-dnfp (PTAH) is the first oral immunotherapy indicated for children aged 4 to 17 years with peanut allergy. There are limited real-world data on patients treated with PTAH.

OBJECTIVE: To characterize pediatric patients treated with PTAH and associated treatment patterns in US clinical practice.

METHODS: US-based physicians with allergy and immunology training treating patients with peanut allergy aged 4 to 17 years with PTAH were recruited from an existing physician panel and completed an online case report form (October to December 2021) with data abstracted from patient medical charts. Physician practice circumstances, patient characteristics, and …

Experiences Of Racism Among Black And African Children With Asthma, Esosa Adah, Rayanna Tucker, Bridgette Jones

Posters

Rationale: The relationship between adverse childhood experiences, toxic stress and asthma risk has been previously described in the literature among adult and pediatric populations. Studies have identified experiences of racism as a chronic stressor associated with asthma morbidity however, most studies have focused primarily on adults or parental perspectives. We initiated a pilot study to characterize described experiences of racism among Black/African American children with persistent asthma and describe some of our initial results. Methods: Children were asked to complete the “Perceptions of Racism in Children and Youth,” a validated questionnaire, measuring perceptions of racism and discrimination. Responses were analyzed …

Malignancy Masquerading As Steroid Resistant Hypereosinophilic Syndrome, Sonya Parashar, Aarti Pandya

Posters

Introduction: Hypereosinophilia syndrome (HES) is defined as 1500 eosinophils/mL or above with evidence of end-organ damage due to the eosinophils at least 4 weeks apart. Case description: A 3-year-old male was admitted for newly found anterior mediastinal mass and left pleural effusion. About 6 weeks prior to admission, he was seen in his primary care office for difficulty breathing. Despite the appropriate treatment for his symptoms, the patient continued to have significant respiratory symptoms and a chest x-ray showed a large left pleural effusion. He was immediately transferred to a tertiary care center and a CT chest showed large left …

A Rare Cause Of Urticaria In An Nsaid Tolerant Patient, Thao Le, Mary K. Mcleod, Laurianne Wild

Posters

Introduction: Acetaminophen is one of the most used anti-pyretics to mitigate fever. Few cases have been reported of hypersensitivity reactions to acetaminophen without non-steroidal anti-inflammatory drug (NSAID) intolerance. It is recommended that if there is suspected drug hypersensitivity then the patient should undergo an oral drug challenge. Case Description: A 49-year-old male presented for evaluation of urticaria that occurred with acetaminophen ingestion. He reported several episodes where he developed diffuse urticaria within 15 minutes of ingestion, but no other symptoms concerning for anaphylaxis. He was unsure of the dose. He also noted urticaria with Excedrin migraine, which contains acetaminophen, aspirin, …

Eight Tips For The Implementation Of The First Licenced Peanut Allergy Oral Immunotherapy Into Clinical Practice., Jay M. Portnoy, Christina E. Ciaccio, Janet Beausoleil, George Du Toit, Stanley Fineman, Stephen A. Tilles, June Zhang, Claire Lawrence, Mohamed Yassine, S Shahzad Mustafa

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Shared learnings from the early use of novel therapies can aid in their optimization. The recent introduction of peanut oral immunotherapy (peanut OIT; Palforzia [Peanut (Arachis hypogaea) Allergen Powder-dnfp]) for peanut allergy addresses a significant unmet need but also highlights the requirement for consideration of several factors by both prescribers and patients.

OBJECTIVE: To provide guidance for prescribers of licenced peanut OIT to facilitate treatment delivery and improve outcomes.

METHODS: Clinicians with experience of licenced peanut OIT (United States n = 6, United Kingdom n = 1) participated in a series of interviews and group discussions designed to elicit …

Likelihood Ratios For Reactions To Egg Based On Specific Ige And Oral Challenges, Melissa Anderson

Research Days

Background: Specific IgE (sIgE) to foods has been used to predict the risk of a systemic reaction (SR) when the food is ingested. An arbitrary cutoff of 0.35 is often used to separate a positive likelihood ratio (LR+) from a negative one (LR-), yet there is little evidence supporting the use of this value.

Objectives/Goal: The objective of this project was to establish a more accurate method for estimating the probability of food allergy to egg.

Methods/Design: Egg-sIgEs were measured and open oral egg challenges were performed on 155 children with a clinical history of egg allergy. Logistic regression (LR) …

Impact Of Social Determinants On The Burden Of Asthma And Eczema: Results From A Us Patient Survey., Don A. Bukstein, Adam Friedman, Erika Gonzalez Reyes, Mary Hart, Bridgette Jones, Tonya Winders

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Little is known about how patients with asthma and eczema perceive their medical care and burden of disease. A survey was conducted to evaluate the perceptions among the general patient population with asthma and/or eczema regarding disease and treatment burden and barriers to adequate care.

METHODS: An online survey was completed by market research panelists in the USA between March 24, 2020 and April 6, 2020. Eligible participants were at least 18 years of age and endorsed a diagnosis of asthma and/or eczema. Survey responses are described for all participants, by designated racial/ethnic groups, and by income level.

RESULTS: …

Timing Of Testing For Ige-Mediated Food Allergy After Systemic Reaction, Jordan Pitt, Paul J. Dowling, Christopher Miller, Ashley Sherman, Salman Aljubran

Posters

Rationale: A refractory period of falsely negative testing can occur following a systemic allergic reaction to Hymenoptera sting. As a result, blood specific IgE and/or skin prick tests (SPT) for other allergens are often delayed. This retrospective chart review aims to identify the proportion of patients with falsely negative test results in the 6 weeks following an allergic reaction to food, and factors that may affect it. Methods: One hundred fourteen pediatric subjects met inclusion criteria. Each had a convincing history of food allergy with a systemic allergic reaction and was tested to the culprit food within 6 weeks. The …

Evaluation Of The Outcomes Of Oral Challenges To Azithromycin, Cephalexin And Trimethoprim-Sulfamethoxazole In Pediatrics, Hannah N. Neuhaus, Jordan Heath Md, Salman Aljubran

Posters

Rationale: Antibiotic hypersensitivity complicates treatment for various infections and leads to long-term healthcare costs and antibiotic resistance. Data regarding the outcomes of oral challenges to trimethoprim-sulfamethoxazole, azithromycin and cephalexin are limited in Pediatrics.  The goal of this study was to characterize the outcomes and safety of oral challenges to these antibiotics in Pediatrics.

Methods: A retrospective chart review was performed of pediatric patients who underwent oral challenges to cephalexin, azithromycin and trimethoprim-sulfamethoxazole in Allergy Clinic over the last 12 years.

Results: Ten patients underwent oral challenge to trimethoprim-sulfamethoxazole and all were successful. Thirteen patients underwent oral challenge to azithromycin and …

Evaluation Of The Outcomes Of Trimethoprim-Sulfamethoxazole Oral Challenges In The Pediatric Population, Hannah N. Neuhaus, Salman Aljubran

Posters

Introduction: Trimethoprim-sulfamethoxazole allergy can complicate treatment for various infections. While trimethoprim-sulfamethoxazole hypersensitivity, desensitization/oral challenges are frequently reported in adults, data is limited on the outcomes/safety of oral challenges to trimethoprim-sulfamethoxazole in Pediatrics. The goal of this study was to characterize the outcomes and safety of trimethoprim-sulfamethoxazole oral challenges in Pediatrics.

Methods: An IRB-exempt retrospective chart review was performed of pediatric patients who underwent oral challenge to trimethoprim-sulfamethoxazole in Allergy Clinic over the last 12 years. We assessed characteristics including age, sex, reaction (IgE-mediated/non-IgE-mediated/indeterminate), skin testing, challenge outcome and complications to draw a conclusion regarding the overall safety of the procedure …

A Case Of An Elevated Tryptase, Sonya Parashar, Nikita Raje

Posters

Hereditary Alpha Tryptasemia (HαT) is an autosomal dominant disorder characterized by an elevated baseline tryptase that occurs up to 3% of the population and clinically resembles mast cell activation syndrome.

Delayed-Onset Anaphylactic Reaction With High Fever After Amoxicillin Oral Challenge And Negative Penicillin Skin Testing, Jordan Pitt, Paul J. Dowling, Christopher Miller, Aarti Pandya

Posters

Introduction:  Immunologic adverse drug reactions can be categorized based on Gell and Coombs’s classification system. Anaphylaxis is generally considered a type I, immediate, IgE-mediated reaction and typically occurs independent of other immunologic reactions. However, the child presented here reacted after amoxicillin challenge with features of type I and type III or IV hypersensitivity reactions. Case Description:  A 12-year-old female presented for amoxicillin allergy evaluation after treatment for scarlet fever with amoxicillin. After the second dose she developed rash with varied features, fatigue, edema, and joint swelling. Labs included a persistently low C4 level, eosinophilia, normal inflammatory markers, and normal tryptase …

Digital Health Technology In Asthma: A Comprehensive Scoping Review., Giselle Mosnaim, Guilherme Safioti, Randall Brown, Michael Depietro, Stanley J. Szefler, David M. Lang, Jay M. Portnoy, Don A. Bukstein, Leonard B. Bacharier, Rajan K. Merchant

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: A variety of digital intervention approaches have been investigated for asthma therapy during the past decade, with different levels of interactivity and personalization and a range of impacts on different outcome measurements.

OBJECTIVE: To assess the effectiveness of digital interventions in asthma with regard to acceptability and outcomes and evaluate the potential of digital initiatives for monitoring or treating patients with asthma.

METHODS: We evaluated digital interventions using a scoping review methodology through a literature search and review. Of 871 articles identified, 121 were evaluated to explore intervention characteristics, the perception and acceptability of digital interventions to patients and …

Recurrent Neonatal Herpes Simplex Virus Infection Associated With Irf7 And Unc93b1 Variants, Venkatesh Sampath, Megan H. Tucker, Heather Menden, Sheng Xia, Wei Yu, Nikita Raje

Posters

Background: Neonatal herpes simplex virus (HSV) is a devastating disease with high mortality. In adults and children, genetic variants in the toll-like receptor 3 (TLR3) pathway increase susceptibility to herpes simplex encephalitis (HSE), but the genetic basis of susceptibility to neonatal HSV is unknown. We hypothesized that deleterious variants in the TLR3 pathway increased vulnerability to HSE in neonates. We investigated immunogenetic studies in an infant with neonatal skin, eye, mouth (SEM) HSV followed by HSE.


Objective: To combine exome sequencing with in vivo and in vitro immune functional analysis to discover the immunogenetic basis of HSV vulnerability in proband. …

Diagnosis Of Peanut Allergy Using Continuous Likelihood Ratios, Nalin Ug

Research Days

No abstract provided.

Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker

Research Days

No abstract provided.

The Reliability Of Histamine Pharmacodynamic Response Phenotype Classification In Children With Allergic Disease., Shaun S Kumar, Xiaoxi Liu, Catherine M Sherwin, Bridgette Jones

Manuscripts, Articles, Book Chapters and Other Papers

We have identified distinct histamine pharmacodynamic response phenotypes in children with allergic disease utilizing histamine iontophoresis with laser Doppler (HILD). These response phenotypes may be relevant in guiding therapeutic decision making for agents targeting the allergic response pathways. However, the reliability of these response phenotypes has not been assessed. Therefore, we performed HILD in children with allergic rhinitis and/or asthma on two to three separate occasions. HILD response-time data were analyzed in NONMEM using a linked effect PKPD model. Examination of observed vs. classified response phenotypes predicted response plots and the sum of residuals. The intraclass correlation coefficient (ICC) was …