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Selected Publications


Yao syndrome in a child with C2 deficiency.

Journal Article J Allergy Clin Immunol Pract · August 14, 2024 Full text Link to item Cite

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Journal Article J Clin Immunol · April 27, 2024 PURPOSE: Patients with adenosine deaminase 1 deficient severe combined immunodeficiency (ADA-SCID) are initially treated with enzyme replacement therapy (ERT) with polyethylene glycol-modified (PEGylated) ADA while awaiting definitive treatment with hemato ... Full text Link to item Cite

Clinical and functional spectrum of RAC2-related immunodeficiency.

Journal Article Blood · April 11, 2024 Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder ... Full text Link to item Cite

Pediatric oral food challenges in the outpatient setting: A single-center experience.

Journal Article J Allergy Clin Immunol Glob · February 2024 BACKGROUND: Oral food challenge (OFC) is the criterion standard for diagnosing food allergy (FA). It is important to have parameters to aid in selecting ideal OFC candidates. OBJECTIVE: We sought to characterize outcomes and predictors of OFCs for common f ... Full text Link to item Cite

Case Report: Profound newborn leukopenia related to a novel RAC2 variant.

Journal Article Front Pediatr · 2024 We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screens. Ini ... Full text Open Access Link to item Cite

Case Report: Aplastic anemia related to a novel CTLA4 variant.

Journal Article Front Pediatr · 2024 A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections. Bone marro ... Full text Open Access Link to item Cite

UNRAVELING THE CAUSE OF A KINDRED WITH CHRONIC CANDIDIASIS

Journal Article Annals of Allergy, Asthma & Immunology · November 2022 Full text Cite