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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Invasive infections, cerebral aneurysms, and cancers were the strongest predictors of poor outcome, and Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. Expand
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity
Current knowledge focusing on IL‐17 signaling and the genetic etiologies responsible for, and associated with, chronic mucocutaneous candidiasis is reviewed. Expand
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
People with loss-of-function mutations in the transcription factor RORC exhibit a surprising susceptibility to Mycobacterium, whereas inborn errors of interferon-γ (IFN-γ) immunity underlie mycobacterial disease. Expand
Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
PTEN loss-of-function mutations can cause APDS-like immunodeficiency because of aberrant PI3K pathway activation in lymphocytes. Expand
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.
The results demonstrate that IL-21, via STAT3, sensitizes B cells to the stimulatory effects of IL-2, and may play an adjunctive role in IL- 21-induced B-cell differentiation, which may amplify the humoral immunodeficiency in patients with mutations in IL2RG, or IL21R. Expand
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells
Memory B cells, unlike naive B cells, require a reduced level of STAT3 activation to differentiate into antibody-secreting plasmablasts in response to IL-10 and IL-21; however, this process requiresExpand
Phenotype, penetrance, and treatment of 133 cytotoxic T‐lymphocyte antigen 4–insufficient subjects
The penetrance, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers, finding affected mutation carriers with CTLA‐4 insufficiency can present in any medical specialty. Expand
Hematopoietic stem cell transplantation in patients with gain‐of‐function signal transducer and activator of transcription 1 mutations
Hematopoietic stem cell transplantation for patients with GOF‐STAT1 mutations is curative but has significant risk of secondary graft failure and death. Expand
Decreased topoisomerase IIα expression confers increased resistance to ICRF-193 as well as VP-16 in mouse embryonic stem cells
To elucidate the relationship between topoisomerase (topo) II expression and sensitivity to anti-topo II drugs in mammalian cells, we generated mouse embryonic stem cell mutants heterozygous for theExpand