User profiles for Alice Y. Chan
 | Alice Y. ChanUCSF Verified email at ucsf.edu Cited by 2044 |
[PDF][PDF] Association of extensive polymorphisms in the SLAM/CD2 gene cluster with murine lupus
Susceptibility to autoimmunity in B6.Sle1b mice is associated with extensive polymorphisms
between two divergent haplotypes of the SLAM/CD2 family of genes. The B6.Sle1b-derived …
between two divergent haplotypes of the SLAM/CD2 family of genes. The B6.Sle1b-derived …
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
…, J Abbott, JW Caldwell, DK Bayer, AY Chan… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical …
heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical …
Discovery of stimulation-responsive immune enhancers with CRISPR activation
The majority of genetic variants associated with common human diseases map to enhancers,
non-coding elements that shape cell-type-specific transcriptional programs and responses …
non-coding elements that shape cell-type-specific transcriptional programs and responses …
[HTML][HTML] Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases
…, MS Caldirola, R Carrasco, AY Chan… - The Journal of …, 2020 - Am Soc Clin Investig
BACKGROUND Undifferentiated systemic autoinflammatory diseases (USAIDs) present
diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine …
diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine …
Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome
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 …
(GOF) mutations were first described to cause a novel multisystem disease of …
[HTML][HTML] Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
Purpose A male infant developed generalized rash, intestinal inflammation and severe
infections including persistent cytomegalovirus. Family history was negative, T cell receptor …
infections including persistent cytomegalovirus. Family history was negative, T cell receptor …
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70
AY Chan, D Punwani, TA Kadlecek… - Journal of Experimental …, 2016 - rupress.org
A brother and sister developed a previously undescribed constellation of autoimmune
manifestations within their first year of life, with uncontrollable bullous pemphigoid, colitis, and …
manifestations within their first year of life, with uncontrollable bullous pemphigoid, colitis, and …
Primary immune regulatory disorders: a growing universe of immune dysregulation
AY Chan, TR Torgerson - Current opinion in allergy and clinical …, 2020 - journals.lww.com
It is important to recognize the broad clinical manifestations of PIRD as patients may have
symptoms atypical of classical ‘immunodeficiency’. Because of their diverse immune …
symptoms atypical of classical ‘immunodeficiency’. Because of their diverse immune …
Analysis of pulmonary features and treatment approaches in the COPA syndrome
…, M Gattorno, MR Waterfield, AY Chan… - ERJ Open …, 2018 - Eur Respiratory Soc
The COPA syndrome is a monogenic, autoimmune lung and joint disorder first identified in
2015. This study sought to define the main pulmonary features of the COPA syndrome in an …
2015. This study sought to define the main pulmonary features of the COPA syndrome in an …
A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance
Naturally occurring cases of monogenic type 1 diabetes (T1D) help establish direct mechanisms
driving this complex autoimmune disease. A recently identified de novo germline gain-of…
driving this complex autoimmune disease. A recently identified de novo germline gain-of…