Pathogenic variants in BTK gene are associated with X-linked agammaglobulinemia, characterized by […]
A previously not reported variant in BTK gene: an atypical late onset case report Read More »
Introduction: Hemophagocytic Lymphohistiocytosis (HLH) is characterized by systemic hyperinflammatory life-threatening syndrome where
Introduction: Inborn errors of immunity (IBD) (formerly called primary immunodeficiencies), are rare
During the last years, the genetic etiology of an increasing number of
Introduction. Leukocyte adhesion deficiency (LAD-1) is an inborn error of immunity characterized
Introduction: Previous studies have associated non-infectious complications with alterations of the profile
Background: It is well-known that a group of Common Variable Immunodeficiency (CVID)
Introduction: Good’s syndrome (GS) is a rare disease (1.5 cases per million)
IMMUNE PROFILING OF SIX GOOD SYNDROME PATIENTS Read More »
Background: Rituximab-associated hypogammaglobulinemia may be reversible but some patients develop long-lasting hypogammaglobulinemia(LLH).
Long-lasting Rituximab-associated Hypogammaglobulinemia: Is It All About Time? Read More »
Introduction: The CTLA-4 deficiency is characterized by immune dysregulation, which may present
Cytotoxic T-lymphocyte antigen-4 (CTLA-4) deficiency: Case report Read More »
