IgA deficiency reveals a microbiota-dependent pathway to gluten sensitivity.
Selective IgA deficiency (sIgAD) is the most common primary immunodeficiency and increases susceptibility to gluten-related enteropathies, but the underlying mechanisms of pathogenesis are unknown. Utilizing IgA-/- mice and wild-type controls, we investigated how dietary gluten shapes susceptibility…
ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling.
Hypoxia upregulated 1 (HYOU1) is a stress-inducible ER chaperone. We investigated 2 unrelated patients carrying biallelic HYOU1 variants and presenting with primary immunodeficiency. Patient 1, homozygous for p.Pro444His, displayed failure to thrive, hypoglycemia, B cell lymphopenia, and neutropenia…
ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling.
Hypoxia upregulated 1 (HYOU1) is a stress-inducible ER chaperone. We investigated 2 unrelated patients carrying biallelic HYOU1 variants and presenting with primary immunodeficiency. Patient 1, homozygous for p.Pro444His, displayed failure to thrive, hypoglycemia, B cell lymphopenia, and neutropenia…
Can Large Language Models Diagnose Primary Immunodeficiency from Patient-Described Symptoms?
Patients with primary immunodeficiency (PI) face prolonged diagnostic delays and may increasingly turn to large language models (LLMs) to interpret their symptoms during this period. We evaluated whether an LLM could recognize PI from symptom descriptions derived from interviews with 21 PI patients.…
Beyond the Newborn Screen: An Infant With Hypoxic Respiratory Failure.
Anchoring bias can narrow diagnostic reasoning in infants with nonspecific but severe presentations. We describe a 4-month-old full-term female who presented with acute hypoxic respiratory failure and significant recent weight loss. Initial evaluation revealed profound CD4 lymphopenia and hypogammag…
Use of subcutaneous infliximab biosimilar CT-P13 in the Common Variable Immune Deficiency associated enteropathy.
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency in adults; non-infectious gastrointestinal involvement may be present in up to 50% of patients, with the small intestine and colon being the most frequently affected areas. Studies have evaluated the effe…
From oncogenesis to approval: the lentiviral gene therapy revolution in Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by pathogenic variants in the WAS gene, resulting in absent or dysfunctional WAS protein (WASp) and a clinical triad of eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplan…
Diagnosing primary immunodeficiencies using protein-based screening assays.
Primary immunodeficiencies (PIDs), now more commonly referred to as inborn errors of immunity (IEIs), are a diverse group of inherited conditions characterized by immune system defects, leading to recurrent infections, immune dysregulation, and autoimmune symptoms. Early diagnosis is crucial for eff…