Captaining the PIDD ship
As the review in this issue of the Annals makes clear, patients with common variable immunodeficiency (CVID) may exhibit one or more of a multiplicity of autoimmune diatheses involving any body system.1 The association of primary immunodeficiency diseases (PIDD) and autoimmunity is not restricted, however, to CVID.2 Similar associations between immunodeficiency and malignancy have been extensively reported as well.3 Our immunodeficiency patients are not merely subject to an increased incidence of the entire spectrum of common and exotic infections but to a panoply of life-threatening conditions that exceed the capacity of even the most broadly trained and astute immunologist.
DiGeorge syndrome (DGS) is the most common congenital chromosome deletion syndrome which appears in 1:4000 live births as the result of 22q11.2 microdeletion1. It is a primary immunodeficiency disease (PID), characterized with decreased T-cell numbers1,2. There is a growing body of evidence that DGS is associated with humoral immune deficiency (ID) as the result of B-lymphocyte functional deficit, leading to hypogammaglobulinemia1,2. Patients with DGS show increased incidence of infection and autoimmune diseases (ADs)1.
CONCLUSION: Mechanisms producing these conditions are poorly understood but include cytokine and cellular inflammatory pathways, and loss of tolerance to self-antigens through the multiple signaling molecules and pathways common to tolerance and immune deficiency. PMID: 31349011 [PubMed - as supplied by publisher]
Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. Introduction Primary immunodeficiencies (PIDs) are a phenotypically and genetically heterogeneous group of more than 300 monogenic inherited disorders resulting in immune defects that pred...
We report a case of an adult female who presented initially with the clinical manifestations of granulomatous-lymphocytic interstitial lung disease (GILID) prior to CVID.
CONCLUSIONS: Our findings demonstrated that patients with CVID and LRBA deficiency (even with severe infectious and inflammatory complications) have not imbalance in Th2 response, which is in parallel with lower frequency of allergy and asthma in these patients. PMID: 30193889 [PubMed - as supplied by publisher]
Conclusion: The frequency of allergenic sensitization in the group of patients with PID and symptoms suggestive of asthma, rhinitis, or atopic dermatitis is lower than that found in the general population, probably due the impairment of IgE formation secondary to their immunologic alterations.Int Arch Allergy Immunol
We describe the first case of CVID associated with stiff-person syndrome (SPS), a neurologic autoimmune disorder. SPS is an extremely rare autoimmune neuromuscular disorder with a prevalence of 1–2 per million and an incidence of 1 case per million per year.
This study aims to further examine these ailments in subjects with PID.
Abstract Intravenous immunoglobulin (IVIG) provides replacement therapy in immunodeficiency and immunomodulatory therapy in inflammatory and autoimmune diseases. This paper describes the immune mechanisms underlying six major non-primary immunodeficiency pediatric diseases and the diverse immunomodulatory functions of IVIG therapy. In Kawasaki disease, IVIG plays a major, proven, and effective role in decreasing aneurysm formation, which represents an aberrant inflammatory response to an infectious trigger in a genetically predisposed individual. In immune thrombocytopenia, IVIG targets the underlying increased pl...
Common variable immune deficiency (CVID) is a common form of severe antibody deficiency. CVID is characterized by infections, gastrointestinal disorders, autoimmune diseases, and increased susceptibility to malignant neoplasms.1 Patients with CVID lack the ability to make a sufficient amount of antibodies to protect them from infections. Intravenous immunoglobulin (IVIG) is used for replacement therapy at 400 to 800 mg/kg and has been found to reduce infection rates for all forms of primary immunodeficiency.