Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report
Craig M, Geng B, Wigby K, Phillips S, Bakhoum C, Naheedy J, Cernelc-Kohan M. Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report. Allergy, Asthma & Clinical Immunology 2022, 18: 15. PMID: 35189965, PMCID: PMC8862239, DOI: 10.1186/s13223-022-00655-5.Peer-Reviewed Original ResearchGrowth hormone deficiencyHormone deficiencyPI3K pathwayAnatomic abnormalitiesUnique presentationOligoarticular juvenile idiopathic arthritisCase presentationThe patientK pathwayPatient's unique presentationJuvenile idiopathic arthritisUnique clinical featuresNine-year-old boyYears of ageMild developmental delayWhole-exome sequencingMultidisciplinary collaborative approachImmune cytopeniasHip painMicroscopic hematuriaRecurrent sinusitisBilateral nephromegalyGH therapyIdiopathic arthritisClinical featuresUnclear etiology