A study just published in the journal Microbiome, describes for the first time the intestinal microbiome and metabolome in patients with (genetically acquired) CTLA4 deficiency. CTLA4 is an immune ...

Common variable immunodeficiency (CVID) is a primary immunological disease with variable severity, ranging from mild forms of infections to chronic progressive complications. The hallmark of this ...

The first APRIL deficiency was found in an adult common variable immunodeficiency patient. We performed whole exome sequencing in the patient and found the homozygous deletion mutation in TNFSF13.

Over a quarter of patients with common variable immunodeficiency (CVID) had allergy or hypersensitivity reactions and higher immunoglobulin (Ig)E levels than patients without allergies, but overall ...

Like their causative mutations, pathophysiology and natural history, the clinical presentation of inborn errors of immunity (IEI) varies widely. Nevertheless, some features, above all recurrent and/or ...

Researchers have revealed a novel association between chromosome 18q deletion syndrome and late-onset combined immunodeficiency (LOCID). Their finding challenges the previously held notion that 18q ...

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