Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis-Like Manifestations: A Case Report.
Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a primary inborn error of immunity characterized by immune dysregulation and frequently associated with autoimmune connective tissue manifestations. We describe an adult woman diagnosed with rheumatoid arthritis who was sub…
Cytotoxic T-Lymphocyte-Associated Protein 4 Deficiency Colitis Masked by Recurrent Cytomegalovirus Colitis Successfully Treated With Vedolizumab.
Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) deficiency is a primary immunodeficiency syndrome caused by mutations in the CTLA-4 gene. Its heterogeneous presentation, often with multisystem involvement, can result in delayed diagnosis and treatment. CTLA-4 deficiency colitis (CDC) is endosco…
Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort.
Bronchiectasis poses a serious but incompletely defined burden in patients with inborn errors of immunity (IEI). We determined its prevalence, independent predictors, and cardiopulmonary complications in a genetically characterized IEI cohort to inform care in this vulnerable population. We conducte…
The Wiskott-Aldrich Syndrome protein (WASp) contribution to microglial phagocytic function and neurodevelopmental support.
Myeloid progenitor cells colonize the brain during embryogenesis and differentiate in microglia. Microglia shape neuronal wiring during development and maintain brain homeostasis in adulthood, both actions requiring intact cytoskeletal functionality. The Wiskott-Aldrich syndrome protein (WASp) media…
Genome Editing for Familial Hemophagocytic Lymphohistiocytosis: Design Principles, Challenges, and Translational Perspectives.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by genetic defects in cytotoxic lymphocyte function. Current therapies can control disease activity, but transplantation of allogeneic hematopoietic stem and progenitor cells (HSPCs) remains the only cur…
Pseudomonal sternal abscess and osteomyelitis as an initial manifestation of common variable immunodeficiency.
Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency in adults and is characterized by hypogammaglobulinemia and recurrent bacterial infections. The initial presentation of sternal osteomyelitis and abscesses, particularly due to Pseudomonas aeruginosa,…
Ataxia-Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review.
Ataxia-telangiectasia is a rare, autosomal recessive primary immunodeficiency caused by mutations in the ATM gene on chromosome 11, which encodes a serine-threonine kinase essential for the recognition and repair of DNA double-strand breaks. The disease is characterized by progressive neurological i…
Cryptosporidiosis in Ptients with Inborn Errors of Immunity: Retrospective cohort study of the French National Reference Center (CEREDIH).
Inborn Errors of Immunity (IEI) display increased susceptibility to infections among which cryptosporidiosis is an opportunistic infection poorly characterized in this population. We report cases of Cryptosporidium spp. infections in French patients with IEI based on data from the registry of the Fr…