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Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency
PurposeAnti-interferon gamma antibody (AIGA) is a rare cause of adult onset immunodeficiency, leading to severe disseminated opportunistic infections...
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Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies
PurposeAnti-interferon (IFN)-γ autoantibodies (anti-IFN-γ Abs) is an emerging adult-onset immunodeficiency syndrome. Immune dysfunction in this...
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Immunodeficiency Diseases
Immunodeficiency disorders are conditions where the defence mechanism of the body is impaired. They show enhanced susceptibility to infection with...
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Psychosocial Evaluation of Adults with Primary Immunodeficiency
PurposePrimary immunodeficiency disorder (PID) is a heterogeneous group of diseases characterized by immune dysregulation and increased...
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Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
ObjectiveTo compare the consumption of antibiotics (AB), systemic steroids, and inhaled bronchodilators/glucocorticoids in the 3 years preceding the...
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Assessment of the first presentations of common variable immunodeficiency in a large cohort of patients
BackgroundCommon Variable Immunodeficiency (CVID) is a primary immunodeficiency syndrome resulting in recurrent infections, autoimmunity, and...
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Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report
PurposeWe present the case of a 24-year-old male with CNS granulomatosis due to an immunodeficiency syndrome which was identified as deficiency of...
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Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
AbstractMutations affecting T-cell receptor (TCR) signaling typically cause combined immunodeficiency (CID) due to varying degrees of disturbed...
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Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults
PurposeCommon variable immunodeficiency (CVID) is the most prevalent symptomatic immunodeficiency in adults. Little is known about the manifestations...
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Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience
Identification of the causes of monogenetic common variable immunodeficiency (CVID) patients has rapidly increased in the last years by means of...
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Influence of Splenomegaly and Splenectomy on the Immune Cell Profile of Patients with Common Variable Immunodeficiency Disease
PurposeAbout 25% of patients with common variable immunodeficiency disease (CVID) have splenomegaly, necessitating sometimes splenectomy whom...
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Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects
Calcium signaling is essential for lymphocyte activation, with genetic disruptions of store-operated calcium (Ca 2+ ) entry resulting in severe...
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High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study
The long-term effects of SARS-CoV-2 infection represent a relevant global health problem. Long COVID (LC) is defined as a complex of signs and...
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Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review
Background and PurposeSideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare...
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A Novel RAC2 Mutation Causing Combined Immunodeficiency
PurposeRas-related C3 botulinum toxin substrate 2 (RAC2) acts as a molecular switch and has crucial roles in cell signaling and actin dynamics. A...
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The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
PurposeInborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with...
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Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
BackgroundBronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associated with...
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Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
PurposeSideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic...
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Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency
As protein-losing enteropathy (PLE) can lead to hypogammaglobulinemia and lymphopenia, and since common variable immunodeficiency (CVID) is...
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Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
A cell’s ability to survive and to evade cancer is contingent on its ability to retain genomic integrity, which can be seriously compromised when...
