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BSH19‐EP‐053 : Lipopolysaccharide (LPS)‐responsive and beige‐like anchor protein deficiency:Unifying diagnosis of multiple autoimmune conditions and immunedeficiency

Researchers

Presenter

  • C. Amadi-Obi

Principal Investigators

  • S. Elmoamly

  • J. Motwani

  • A. Norton

  • M. Velangi

Medical Centers

  • Haematology/Oncology, Birmingham Children's Hospital and Federal Medical Centre Owerri, Nigeria

  • West Midlands Deanery UK and Faculty of Medicine, Cairo University

  • Paediatric Neurology, Birmingham Children's Hospital, Birmingham, United Kingdom

Locations

  • Nigeria

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • Musculoskeletal

  • Autoimmune (AI)

  • Central Nervous System (CNS)

  • Endocrine/metabolic Diseases (ME)

  • Genetic Disorder

  • Otolaryngology

Disease

  • Immune thrombocytopenia

  • Type 1 diabetes mellitus

  • Hypogammaglobulinaemia

  • Diabetes

  • Lipopolysaccharide (LPS)‐responsive and beige‐like anchor protein deficiency

  • Otitis Media

  • Inflammatory Arthritis

  • Epilepsy

  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

Biomarkers

  • Chromosome 4

  • Cytotoxic T-lymphocyte-associated protein 4

Drug/Treatment

  • Methylprednisolone

  • Romiplostim

  • Abatacept

  • Rapacan

  • Rituximab

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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