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B Cells and Humoral Immunity
Published in Constantin A. Bona, Francisco A. Bonilla, Textbook of Immunology, 2019
Constantin A. Bona, Francisco A. Bonilla
This syndrome (also called common variable immunodeficiency) generally occurs later in life (the second and third decades) and may have varying manifestations. Patients present with recurrent moderate to severe infections, often of the respiratory tract. These individuals usually have peripheral blood B cells, but few plasma cells, and low levels of IgG, IgA and IgM antibodies. Deficiency of one isotype may be more pronounced than another, and antibody levels may rise and fall over time. The condition may occasionally be transient, but often follows a remitting and relapsing course. There are at least several, and possibly a large number of discrete genetic lesions and/or environmental predisposing factors that account for the heterogeneity of this clinical entity. In most cases there is thought to be altered or deficient control of Ig isotype production by regulatory T cells.
Single best answer (SBA)
Published in Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon, Radiology for Undergraduate Finals and Foundation Years, 2018
Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon
A five-year-old boy has had repeated episodes of sinusitis and has had three chest infections in the preceding six months. His GP sends him for a chest X-ray. The CXR shows no focal consolidation, but there is bilateral lower zone bronchiectasis; dextrocardia is also noted. What is the likeliest diagnosis? α1-anti-trypsin deficiency.Common variable immunodeficiency.Cystic fibrosis.Kartagener’s syndrome.Yellow nail syndrome.
Section 7
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
7.14 In common variable immunodeficiency (CVID):Cells are totally absentAutosomal recessive inheritance may be seenIgA levels are characteristically normalT lymphocytes are usually affectedThere is increased incidence of autoimmune disorders in families of affected members
Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of “Immune TOR-Opathies”
Published in Fetal and Pediatric Pathology, 2023
Mai He, Amanda Wong, Kimberly Sutton, Mercia Jeanne Bezerra Gondim, Charles Samson
Approximately 50 single gene defects have been described that are associated with IBD-like pathology (see Table 1) [4]. Several of these genes are associated with primary immunodeficiency syndromes, including common variable immunodeficiency (CVID); Wiskott-Alrich syndrome; immunodysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX); chronic granulomatous disease, and immuodysregulation [5]. The pathogenesis leading to the intestinal pathology in monogenic IBD is proposed to differ from that leading to conventional IBD. Presumably, in monogenic IBD, immune cell defects associated with primary immunodeficiency lead to intestinal injury and chronic inflammation. The distinction between monogenic and conventional IBD is important, as some cases of monogenic IBD are associated with higher morbidity and mortality, and may not respond to conventional therapies and instead require novel therapies (e.g. hematopoietic stem cell transplant, IL-1β antagonists) [4].
Seronegative panencephalitis complicated by viral encephalomyelitis in a case of Good’s syndrome – a neuropathological report
Published in International Journal of Neuroscience, 2022
Sucharita Ray, Heena Kathuria, Kamalesh Chakravarty, Amit Rawat, Aastha Takkar, Sahil Mehta, Manoj Goyal, Chirag Ahuja, Vikas Bhatia, Vivek Lal, Kirti Gupta
Good’s syndrome described in 1954 can have a varied presentation consisting of opportunistic infections and an unusually high rate of autoimmune diseases involving nearly all organ systems [7]. Mortality is higher in Good’s syndrome, compared to the most common differential of common variable immunodeficiency (CVID) independent of autoimmune disease or use of immunosuppressives [4]. In comparison to the latter, lymphoid hyperplasia and granuloma formation are relatively rare in Good’s syndrome [3, 8]. A rare condition of B cell-depleted CVID resembles Good’s syndrome closely but peripheral circulating B cells are not absent in the said condition as seen with the latter. Prognostically as well, patients with CVID live much longer as compared to patients with Good’s syndrome, who have a catastrophic course and high rates of morbidity and mortality [8].
Clinical considerations in the hematopoietic stem cell transplant management of primary immunodeficiencies
Published in Expert Review of Clinical Immunology, 2018
Alexandra Laberko, Andrew R. Gennery
A further group of patients is those for whom HSCT is not generally considered. Patients with common variable immunodeficiency are generally treated with immunoglobulin replacement, prophylactic antimicrobials, and, if indicated for inflammatory manifestations, immunosuppression. Long-term cohort studies are available, indicating poor prognosis for those with noninfectious complications [29]. Some of these patients have been successfully transplanted, indicating a role for stem cell therapies within this heterogeneous group of diseases [30], although it remains unclear which patients should be offered transplantation. Within this group are patients with a profound immunodeficiency but without a genetic diagnosis, who present a particular challenge, as there are no cohort studies to guide management. A prospective longitudinal observational study is trying to identify features that lead to transplantation [31]. The profound combined immunodeficiency (P-CID) study observes patients in whom impaired T-lymphocyte immunity causes significant complications, but is not severe enough for an unambiguous early transplant procedure. For these patients, decisions on the indication and time to consider HSCT must carefully weigh the risks of transplantation against the risks of further disease evolution.