Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described
combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene …

Background In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function
(GOF) mutations were first described to cause a novel multisystem disease of …

Aim To review multiorgan involvement and management in children with Down syndrome (DS).
Methods A literature review of articles from 1980 to 2019 using the MEDLINE interface of …

We have previously reported on a unique patient in whom homozygosity for a mutation at
IRF8 (IRF8 K108E ) causes a severe immunodeficiency. Laboratory evaluation revealed a …

Lung disease in patients with both primary ciliary dyskinesia (PCD) or cystic fibrosis (CF) is
associated with impaired mucociliary clearance; however, clinical outcomes are typically …

Background Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of
immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping …

This study aimed to determine whether antimicrobial susceptibility testing of Pseudomonas
aeruginosa grown as a biofilm, rather than planktonically, improves efficacy of antibiotic …

Background Down syndrome (DS) is the most common syndromic immunodeficiency with
an increased risk of infection, mortality from sepsis, and autoinflammation. Innate immune …

Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture
or movement, causing activity limitation, due to a lesion in the developing brain. CP is an …

Janus kinase (JAK) and signal transducer and activator of transcription (STAT) pathways
mediate the signaling of multiple cytokines for a myriad of leukocyte functions. 1 Somatic gain-of…