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…
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…
Transient hypogammaglobulinemia of infancy: revisiting an old entity.
Transient hypogammaglobulinemia of infancy (THI) is one of the most common primary antibody deficiencies presenting in early childhood and is characterized by delayed maturation of humoral immunity with spontaneous normalization of immunoglobulin G (IgG) levels in most patients. Although THI has tra…
Approach and Management of Abnormal T-Cell Receptor Excision Circles on Newborn Screening.
Severe combined immunodeficiency (SCID) is a disease of adaptative immunity and the most severe form of primary immunodeficiency. Without early diagnosis and proper management, infants are at increased risk of severe recurrent infections and death. The addition of a T-cell receptor excision circle (…