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 ...

Pulmonary complications represent a major cause of morbidity in patients with common variable immunodeficiency (CVID), ...

Chromosome 18q deletion (18q del) syndrome is a rare genetic disorder, affecting approximately 1 in 40,000 to 55,000 individuals, caused by the deletion of genetic material on the long arm of ...

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 ...

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 ...

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.

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 ...

Tokyo Medical and Dental University (TMDU) researchers have discovered that patients with 18q deletion syndrome can experience both cellular and humoral immunodeficiency Tokyo, Japan – Chromosome 18q ...