Jesmeen Maimaris
A5070059693- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Immune Cell Function and Interaction
- Cytokine Signaling Pathways and Interactions
- Cystic Fibrosis Research Advances
- Autoimmune and Inflammatory Disorders Research
- Genetic factors in colorectal cancer
- Pulmonary Hypertension Research and Treatments
- IL-33, ST2, and ILC Pathways
- NF-κB Signaling Pathways
- Telomeres, Telomerase, and Senescence
- Genetics and Neurodevelopmental Disorders
- Medical Imaging and Pathology Studies
- Retinal Development and Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- T-cell and B-cell Immunology
- Asthma and respiratory diseases
- Congenital Ear and Nasal Anomalies
- Pediatric Hepatobiliary Diseases and Treatments
- Glaucoma and retinal disorders
- Pneumocystis jirovecii pneumonia detection and treatment
- Congenital heart defects research
- Infant Health and Development
- BRCA gene mutations in cancer
- RNA regulation and disease
University College London
2017-2025
Great Ormond Street Hospital for Children NHS Foundation Trust
2018-2025
Royal Free London NHS Foundation Trust
2023
Great Ormond Street Hospital
2017-2022
Chelsea and Westminster Hospital
2012
Imperial College London
2012
STAT6 (signal transducer and activator of transcription 6) is a factor that plays central role in the pathophysiology allergic inflammation. We have identified 16 patients from 10 families spanning three continents with profound phenotype early-life onset immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, anaphylaxis. The cases were either sporadic (seven...
Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS).Twelve patients with cDGS underwent allogeneic cultured thymus.We sought to confirm and extend results previously obtained in single center.Two died pre-existing viral infections without having thymopoiesis, 1 late death occurred from autoimmune thrombocytopenia. One infant had septic shock shortly after transplantation, resulting graft loss need second transplant. Evidence...
The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified novel heterozygous germline mutation c.1255G > C, p.D419H leading to overactivity JAK/STAT pathway, in kindred affected by early-onset atopic dermatitis, food allergy, eosinophilic asthma, anaphylaxis follicular lymphoma. D419H expression functional activity...
Abstract SH2B3 is a negative regulator of multiple cytokine receptor signalling pathways in haematopoietic tissue. To date, single kindred has been described with germline biallelic loss‐of‐function variants characterized by early onset developmental delay, hepatosplenomegaly and autoimmune thyroiditis/hepatitis. Herein, we two further unrelated kindreds that show striking phenotypic similarity to each other as well the previous myeloproliferation multi‐organ autoimmunity. One proband also...
Abstract Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed literature review analysis of clinical data 149 patients with GS2 including 8 new patients. identified three founder mutations which show diverse phenotypic profiles ( RAB27A c.244 C > T, p.R82C, c.514_518delCAAGC, p.Q172NfsX2, c.550 p.R184X). The...
Abstract The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified novel heterozygous germline mutation c.1255G > C, p.D419H leading to overactivity JAK/STAT pathway, in kindred affected by early-onset atopic dermatitis, food allergy, eosinophilic asthma, anaphylaxis follicular lymphoma. D419H expression...
Abstract Primary immunodeficiency (PID) is characterised by recurrent and often life-threatening infections, autoimmunity cancer, it presents major diagnostic therapeutic challenges. Although the most severe forms present in early childhood, majority of patients adulthood, typically with no apparent family history a variable clinical phenotype widespread immune dysregulation: about 25% have autoimmune disease, allergy prevalent, up to 10% develop lymphoid malignancies 1–3 . Consequently,...
The COVID-19 pandemic has impacted on how health services deliver care and the mental of population. Due to their clinical vulnerability, reduce in-hospital attendances during pandemic, modifications in immunoglobulin treatment regimens were made for patients with antibody deficiency. These also likely experience social isolation due shielding measure that advised. We aimed investigate impact modifying regimen infection burden restrictions.Patients replacement therapy (IGRT) responded a...
<h3>Background</h3> GLILD is defined as lymphatic infiltrates and granulomata in the lung mostly described a complication of Common Variable Immunodeficiency (CVID). About 58% patients with CVID develop it associated early mortality adults. <h3>Method</h3> We describe clinical, pathological radiological features using our electronic database Great Ormond Street Hospital. <h3>Results</h3> <h3>Six were identified</h3> Males females equally affected. The age ranged between 4–9 years when first...
<h3>Background</h3> The skin of the preterm infant is immature at birth and unable to serve as an effective epidermal barrier whose major functions prevention transepidermal water loss (TEWL). <h3>The Aim</h3> study determine effect topical ointment therapy (Aquaphor) in newborn infants on their TEWL measured using total body (TBW), fluid intake metabolic balance first week life. Secondary outcomes were all so noted (sepsis, CLD, PDA IVH). <h3>Methods</h3> This a prospective randomised...