Hasan Al‐Dhekri
A5036370902- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Blood disorders and treatments
- Hematopoietic Stem Cell Transplantation
- Pneumocystis jirovecii pneumonia detection and treatment
- Cytomegalovirus and herpesvirus research
- Cystic Fibrosis Research Advances
- T-cell and B-cell Immunology
- Genomics and Rare Diseases
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Autoimmune and Inflammatory Disorders Research
- Genomic variations and chromosomal abnormalities
- Hemoglobinopathies and Related Disorders
- Inflammasome and immune disorders
- Acute Myeloid Leukemia Research
- Legionella and Acanthamoeba research
- Mycobacterium research and diagnosis
- Acute Lymphoblastic Leukemia research
- Genetics and Neurodevelopmental Disorders
- Research on Leishmaniasis Studies
- Autoimmune Bullous Skin Diseases
- Tuberculosis Research and Epidemiology
- IgG4-Related and Inflammatory Diseases
- Spinal Dysraphism and Malformations
- Pharmaceutical studies and practices
King Faisal Specialist Hospital & Research Centre
2013-2023
In this study, we report the experience of only reference clinical next-generation sequencing lab in Saudi Arabia with first 1000 families who span a wide-range suspected Mendelian phenotypes. A total 1019 tests were performed period March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings and 33 trio parents). Multigene panels accounted for 672 tests, while whole exome (WES) represented remaining 347 tests. Pathogenic likely pathogenic variants that...
CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment hematopoietic stem cell transplantation (HSCT).We performed international collaborative study to improve patients' management, aiming individualize risk factors determine optimal HSCT characteristics.We retrospectively collected data on 130 patients...
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we identified a homozygous missense mutation gene encoding base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity siblings from consanguineous family. The NEIL3 was fatal recurrent infections, severe autoimmunity, hypogammaglobulinemia, and impaired B cell function these individuals. same also an asymptomatic individual who exhibited elevated levels serum...
Combined immunodeficiencies are a heterogeneous collection of primary immune disorders that exhibit defects in T cell development or function, along with impaired B activity even light normal maturation. CARMIL2 (RLTPR) is protein involved cytoskeletal organization and migration, which also plays role CD28 co-signaling cells. Mutations this have recently been reported to cause novel immunodeficiency disorder variable phenotypic presentations. Here, we describe seven patients from three...
Primary immune deficiency (PID) disorders are clinically and molecularly heterogeneous diseases. T cell receptor excision circles (TRECs) κ (kappa)-deleting (KRECs) markers of B development, respectively. They useful tools to assess function reconstitution have been used for newborn screening severe combined immunodeficiency disease (SCID) agammaglobulinemia, Their profiles in several genetically confirmed PIDs still lacking. The objective this study was determine TREC KREC genomic profiling...
Abstract Background Children with Severe Combined Immunodeficiency (SCID) lack autologous T lymphocytes and present multiple infections early in infancy. Omenn syndrome is characterized by the sole emergence of oligoclonal auto-reactive lymphocytes, resulting erythroderma enteropathy. (OS) shares genetic aetiology - B NK + SCID, mutations RAG1, RAG2 , or DCLRE1C . Methods Patients diagnosed SCID phenotypes suggestive were investigated molecular studies using gene tightly linked...