Dominant-negative CARD11 loss-of-function variant presenting with hypereosinophilic syndrome

Bridget E Wilson^{1

2}, Payge Van Stechelman³, Rachel Mariani⁴, Nikita Goswami⁵, Nicole Sidebottom¹, Cindy S Bauer^{1

6}, Keith A Sacco^{1

6}

Affiliations

¹ Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA.
² Department of Medicine, Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
³ Department of Pediatrics, Phoenix Children's, Phoenix, Arizona, USA.
⁴ Department of Pathology, Phoenix Children's, Phoenix, Arizona, USA.
⁵ Division of Rheumatology, Phoenix Children's, Phoenix, Arizona, USA.
⁶ Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA.

Case Reports

Bridget E Wilson et al. Pediatr Allergy Immunol. 2023 Nov.

. 2023 Nov;34(11):e14041.

doi: 10.1111/pai.14041.

Bridget E Wilson^{1

2}, Payge Van Stechelman³, Rachel Mariani⁴, Nikita Goswami⁵, Nicole Sidebottom¹, Cindy S Bauer^{1

6}, Keith A Sacco^{1

6}

¹ Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA.
² Department of Medicine, Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
³ Department of Pediatrics, Phoenix Children's, Phoenix, Arizona, USA.
⁴ Department of Pathology, Phoenix Children's, Phoenix, Arizona, USA.
⁵ Division of Rheumatology, Phoenix Children's, Phoenix, Arizona, USA.
⁶ Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA.

No abstract available

References

1. Sullivan KE, Stiehm ER. Stiehm's Immune Deficiencies: Inborn Errors of Immunity. 2nd ed. Elsevier/Academic Press; 2020.
1. Dorjbal B, Stinson JR, Ma CA, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019;143(4):1482-1495.
1. Ma CA, Stinson JR, Zhang Y, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet. 2017;49(8):1192-1201.