Publications by authors named "M A Slatter"
Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic stem cell transplantation (HSCT) has been suggested as a potential curative therapy, the extent to which disease may be driven by extra-hematopoietic effects of RIPK1-deficiency, which are non-amenable to HSCT, is not clear.
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- - C1q deficiency is a rare immune disorder that increases the risk of infections and autoimmune diseases similar to systemic lupus erythematosus (SLE), often leading to various health complications.
- - An international study involving 18 patients evaluated the outcomes of hematopoietic stem cell transplantation (HSCT) for C1q deficiency, showing a 71% overall survival rate and improvement in autoimmune symptoms for most patients.
- - The study highlights that patients with severe autoimmune symptoms have poorer survival rates, and specific antibodies were linked to different organ involvements, emphasizing the need for careful patient selection and risk assessment for HSCT as a treatment option.
Background: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) insufficiency causes a primary immune regulatory disorder characterized by lymphoproliferation, dysgammaglobulinemia, and multiorgan autoimmunity including cytopenias and colitis.
Objective: We examined the outcome of hematopoietic stem cell transplantation (HSCT) for CTLA-4 insufficiency and study the impact of pre-HSCT CTLA-4 fusion protein (CTLA-4-Ig) therapy and pre-HSCT immune dysregulation on survival and immunologic outcome.
Methods: This was a retrospective study of HSCT for CTLA-4 insufficiency and 2q33.
Immunodeficiency-Centromeric instability-Facial dysmorphism (ICF) syndrome is an inborn error of immunity characterized by progressive immune dysfunction and multi-organ disease usually treated with antimicrobial prophylaxis and immunoglobulin substitution. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment, but data on outcome are scarce. We provide a detailed description of disease characteristics and HSCT outcome in an international cohort of ICF syndrome patients.
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