Autoimmune Lymphoproliferative Syndrome
Gene: STAT3
PMID:36228738;
Also known as STAT3 GoF syndrome, this review contains 191 patients with 72 unique variants
Sources: LiteratureCreated: 15 Jan 2025, 2:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: stat3 has been classified as Green List (High Evidence).
Gene: stat3 has been classified as Green List (High Evidence).
gene: STAT3 was added gene: STAT3 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 36228738 Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Review for gene: STAT3 was set to GREEN gene: STAT3 was marked as current diagnostic