A group of disorders where part of the immune system is absent or dysfunctional, causing frequent infections.
✦ AI summary
Research on Primary Immunodeficiency (PID), also called inborn errors of immunity, covers a wide range of genetic conditions and their complications. Common variable immunodeficiency (CVID) is a major focus: studies show that in children, CVID-like presentations are more often linked to specific single-gene causes than in adults, suggesting careful genetic testing matters for younger patients [3]. Certain gene mutations produce distinctive CVID-like syndromes, such as APDS (affecting a cell-signaling pathway, causing infections, enlarged lymph nodes/spleen, lung damage, and sometimes lymphoma) [4], and IL7R mutations that can mimic CVID with lymphoid tissue overgrowth [8]. Other genetic immunodeficiencies described include TTC7A deficiency (linked to intestinal disease and infections, with survival remaining a major challenge) [2], CTLA-4 deficiency (which can cause colitis resembling inflammatory bowel disease, sometimes complicated by infections like CMV) [6], and LRBA deficiency (linked to autoimmune conditions like rheumatoid arthritis and gut problems, with one case improving on a targeted immune therapy
This is an AI-generated summary of the sources below — not medical advice. Always talk to a doctor or pharmacist about your own situation.
Frequent infectionsFatigueChronic sinusitisGI problemsAutoimmune featuresBrain fog
Acute portal vein thrombosis postimage-guided liver biopsy in common variable immunodeficiency.
Portal vein thrombosis (PVT) is a rare complication following percutaneous liver biopsy, with an incidence below 0.4% in large multicenter series. We report a 51-year-old male with common variable immunodeficiency (CVID), chronic liver enzyme elevation, and preoperative imaging consistent with cirrh…
How I treat: Diagnostic clues and treatment for activated phosphoinositide 3-kinase delta syndrome.
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a form of common variable immunodeficiency (CVID) caused by gain-of-function variants in PIK3CD (APDS1) or loss-of-function variants in PIK3R1 (APDS2), resulting in hyperactivation of the PI3Kδ pathway. Clinically, it is characterized by r…
Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.
Diagnosing common variable immunodeficiency (CVID) in childhood remains contentious, as monogenic inborn errors of immunity (IEIs) are increasingly recognized in CVID-like phenotypes. We analyzed 7,525 ESID Registry patients with a clinical diagnosis of CVID to investigate age-dependent genetic arch…
TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT.
Tetratricopeptide repeat domain 7A (TTC7A) deficiency is a primary immunodeficiency due to mutations in the TTC7A gene. It causes intestinal disease and a poorly characterized immunodeficiency, with poor long-term survival. We describe the clinical and immunological characteristics, management, and…
Molecular investigation of Bartonella infection among immunocompromised patients in Iran.
Bartonella infections are emerging zoonotic pathogens, primarily transmitted through arthropod vectors or direct contact with animals. Immunocompromised individuals are at increased risk of developing severe complications. In this cross-sectional study, a total of 370 blood samples were collected fr…
Common Variable Immunodeficiency Associated With Connective Tissue Diseases: A Report of Two Cases.
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency in adults and is increasingly recognized as a disorder of immune dysregulation. Autoimmune diseases, including connective tissue diseases, may precede the diagnosis of CVID and contribute significantly…
Longitudinal changes in inflammatory markers and body weight in adults with primary immunodeficiency receiving immunoglobulin replacement therapy: A retrospective cohort study.
Immunoglobulin replacement therapy (IgRT) is the cornerstone of treatment for adults with primary immunodeficiency [primary immunodeficiency diseases (PID)]. Its role in infection prevention is well established. However, its effects on systemic inflammation and metabolic parameters remain incomplete…
A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.
NFKB2 encodes the precursor p100 which undergoes processing to generate the mature NF-κB2 transcription factor subunit p52. Most of the known pathogenic NFKB2 variants render p100 un-processable and are typically linked to immunodeficiency disorders with antibody deficiency, susceptibility to infect…