Immune System Diseases Commons^™

Engineering A Novel Treg Population To Control Autoimmune Diabetes, Sofia Colon Guzman, Elly Puckett, Mary A. Markiewicz, Ryan T. Fischer

Research Days

We created a model to test the immunosuppressive capacity of Helios+FOXP3+ eTregs compared to nTregs against islet-specific autoreactive T cells. We also showed that nTregs decrease the response of these cytotoxic T cells when co-cultured with BetaLox5 cells.

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. …

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.

Targeting Natural Killer Cells For Improved Immunity And Control Of The Adaptive Immune Response., Stephen Pierce, Eric S. Geanes, Todd Bradley

Manuscripts, Articles, Book Chapters and Other Papers

Natural killer (NK) cells are critical for targeting and killing tumor, virus-infected and stressed cells as a member of the innate immune system. Recently, NK cells have also emerged as key regulators of adaptive immunity and have become a prominent therapeutic target for cancer immunotherapy and infection control. NK cells display a diverse array of phenotypes and function. Determining how NK cells develop and are regulated is critical for understanding their role in both innate and adaptive immunity. In this review we discuss current research approaches into NK cell adaptive immunity and how these cells are being harnessed for improving …

Global Health Experience In Botswana, Sarah Bieser

Posters

Describes experience providing care at the Botswana-Baylor Children's Center of Excellence in Gabarone, Botswana and the Princess Marina Hospital.

Determining The Instructional Effectiveness Of An Online Resident Vaccine Curriculum, S. Elizabeth Williams, Shannon Clark, Barbara A. Pahud, Sharon Humiston, Donald Middleton, Kadriye O. Lewis

Posters

We developed four online modules through the Collaboration for Vaccine Education and Research (CoVER) project. The objective of this qualitative study is to determine the instructional effectiveness of the CoVER curriculum from the perspectives of medical residents.

Autoimmune Hyperphosphatemic Tumoral Calcinosis In A Patient With Fgf23 Autoantibodies., Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher J. Romero, Shoji Ichikawa, Emily G. Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, Rachel I. Gafni

Manuscripts, Articles, Book Chapters and Other Papers

Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder of ectopic calcification due to deficiency of or resistance to intact fibroblast growth factor 23 (iFGF23). Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. We present what we believe is the first identified case of autoimmune hyperphosphatemic tumoral calcinosis in an 8-year-old boy. In addition to the classical clinical and biochemical features of hyperphosphatemic tumoral calcinosis, the patient exhibited markedly elevated intact and C-terminal FGF23 levels, suggestive of FGF23 resistance. However, no mutations in FGF23, KL, or FGF receptor 1 …

Medication Education In The Pediatric Rheumatology Clinic, Ashley M. Cooper, Julia G. Harris

Posters

No abstract provided.

Novel Genetic Variants Associated With Child Refractory Esophageal Stricture With Food Allergy By Exome Sequencing., Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Refractory esophageal stricture (RES) may be attributed to food allergy. Its etiology and pathogenesis are not fully understood. Identification of novel genetic variants associated with this disease by exome sequencing (exome-seq) may provide new mechanistic insights and new therapeutic targets.

METHODS: To identify new and novel disease-associating variants, whole-exome sequencing was performed on an Illumina NGS platform in three children with RES as well as food allergy.

RESULTS: A total of 91,024 variants were identified. By filtering out 'normal variants' against those of the 1000 Genomes Project, we identified 12,741 remaining variants which are potentially associated with RES plus …

International Consensus (Icon) On: Clinical Consequences Of Mite Hypersensitivity, A Global Problem., Mario Sánchez-Borges, Enrique Fernandez-Caldas, Wayne R. Thomas, Martin D. Chapman, Bee Wah Lee, Luis Caraballo, Nathalie Acevedo, Fook Tim Chew, Ignacio J. Ansotegui, Leili Behrooz, Wanda Phipatanakul, Roy Gerth Van Wijk, Demoly Pascal, Nelson Rosario, Motohiro Ebisawa, Mario Geller, Santiago Quirce, Susanne Vrtala, Rudolf Valenta, Markus Ollert, Giorgio Walter Canonica, Moises A. Calderón, Charles S. Barnes, Adnan Custovic, Suwat Benjaponpitak, Arnaldo Capriles-Hulett

Manuscripts, Articles, Book Chapters and Other Papers

Since mite allergens are the most relevant inducers of allergic diseases worldwide, resulting in significant morbidity and increased burden on health services, the International Collaboration in Asthma, Allergy and Immunology (iCAALL), formed by the American Academy of Allergy, Asthma and Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI), the European Academy of Allergy and Clinical Immunology (EAACI), and the World Allergy Organization (WAO), has proposed to issue an International Consensus (ICON) on the clinical consequences of mite hypersensitivity. The objectives of this document are to highlight aspects of mite biology that are clinically relevant, to update the …

Initial Benchmarking Of The Quality Of Medical Care In Childhood-Onset Systemic Lupus Erythematosus., Rina Mina, Julia G. Harris, Marisa S. Klein-Gitelman, Simone Appenzeller, Maraisa Centeville, Diane Eskra, Jennifer L. Huggins, Anne L. Johnson, Raju Khubchandani, Prachi Khandekar, Jiha Lee, Hai Mei Liu, Joshua D. Pendl, Clovis A. Silva, Marco F. Silva, Ahmad I. Zaal, Esi Morgan Dewitt, Stacy P. Ardoin, Hermine I. Brunner

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess the quality of medical care in childhood-onset systemic lupus erythematosus (SLE) at tertiary pediatric rheumatology centers as measured by observance of SLE quality indicators (SLE-QIs).

METHODS: International consensus has been achieved for childhood-onset SLE-QIs capturing medical care provision in 9 domains: diagnostic testing, education of cardiovascular (CV) risk and lifestyles, lupus nephritis (LN), medication management, bone health, ophthalmologic surveillance, transition, pregnancy, and vaccination. Using medical record information, the level of performance of these childhood-onset SLE-QIs was assessed in childhood-onset SLE populations treated at 4 tertiary pediatric rheumatology centers in the US, 2 in Brazil, and 1 center …

Allergic Diseases And Internalizing Behaviors In Early Childhood., Maya K. Nanda, Grace K. Lemasters, Linda Levin, Marc E. Rothenberg, Amal H. Assa'ad, Nicholas Newman, David Bernstein, Gurjit Khurana-Hershey, James E. Lockey, Patrick H. Ryan

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: The relationship between allergic diseases and internalizing disorders has not been well characterized with regard to multiple allergic diseases or longitudinal study. The objective of this study was to examine the association between multiple allergic diseases in early childhood with validated measures of internalizing disorders in the school-age years.

METHODS: Children enrolled in the Cincinnati Childhood Allergy and Air Pollution Study underwent skin testing and examinations at ages 1, 2, 3, 4, and 7 years. At age 7, parents completed the Behavior Assessment System for Children, Second Edition (BASC-2), a validated measure of childhood behavior and emotion. …

Diagnostics Of Primary Immunodeficiencies Through Next-Generation Sequencing., Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol J. Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) technologies and proper filtering strategies greatly contributed to this rapid evolution, providing the possibility to rapidly and simultaneously analyze large numbers of genes or the whole exome.

OBJECTIVE: To evaluate the role of targeted NGS and whole exome sequencing (WES) in the diagnosis of a case series, characterized by complex or atypical clinical features suggesting a PID, difficult to diagnose using the current diagnostic procedures.

METHODS: We retrospectively analyzed …