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Mucosal manifestations of immunodeficiencies
Published in Phillip D. Smith, Richard S. Blumberg, Thomas T. MacDonald, Principles of Mucosal Immunology, 2020
Scott Snapper, Jodie Ouahed, Luigi D. Notarangelo
X-linked agammaglobulinemia (XLA) results from mutations of the Bruton's tyrosine kinase (BTK) gene. BTK is located on the X chromosome and regulates signaling through the pre-B-cell receptor (pre-BCR) and the BCR. BTK deficiency results in a block at the pro-B to pre-B cell stage in B-cell differentiation in the bone marrow. Accordingly, patients with XLA have a severe reduction or absence of circulating B cells, associated with profound deficiency of all immunoglobulin isotypes. A similar phenotype can also be observed in patients with autosomal recessive forms of agammaglobulinemia, due to mutations of the mu (μ) heavy-chain gene; of the Igα, Igβ, and V pre-B components of the pre-BCR; or of the adaptor molecule B-cell linker protein, which is also involved in pre-BCR-mediated signaling.
Pathology of the Spleen
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Lymphoid depletion occurs with: Acquired immune deficiency syndrome (AIDS): At autopsy, plasmacytosis and white pulp depletion are common findings (2). Other findings include immunoblast proliferation, microabscesses, fibrosis, congestion of red pulp, erythrophagocytosis, infection [mycobacteria (16%), cytomegalovirus (15%)] and neoplasms [malignant lymphoma (14%), perivascular Kaposi sarcoma (15%)].Primary immunodeficiency diseases: X-linked agammaglobulinemia of Bruton (B-cell deficiency), DiGeorge thymic hypoplasia syndrome (T-cell depletion), severe combined immunodeficiency (B- and T-cell defect).Cytotoxic chemotherapy and radiotherapyImmunosuppressive agents—corticosteroids and antilymphocyte serum
Astrovirus
Published in Dongyou Liu, Handbook of Foodborne Diseases, 2018
Victoria A. Meliopoulos, Virginia Hargest, Valerie Cortez
In fact, there are a growing number of case reports on systemic disease caused by both classical and nonclassical HAstV strains, including encephalitis, meningitis, and multiple organ failure, as summarized in Table 3.1. Most patients who experienced disseminated disease are immunocompromised due to the genetic disorder X-linked agammaglobulinemia42,43 or by hematopoietic stem cell transplant procedures.44–47 The only well-documented case of an immunocompetent patient who experienced extragastrointestinal disease was that of a previously healthy woman who was hospitalized at the University of Geneva Hospitals, Switzerland, in 2014 with acute meningitis.48 In this patient, cerebral spinal fluid, urine, and fecal samples collected at admission were positive for HAstV-MLB2. From these reports, we now have greater appreciation for the clinical spectrum of HAstV disease and parallels with animal AstV disease, as discussed later in this chapter.
Keratoconjunctivitis as a Single Entity in X-linked Agammaglobulinemia?
Published in Ocular Immunology and Inflammation, 2023
Stefan Mielke, Bastian Grundel, Sebastian M. Schmidt, Frank Tost
X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton’s tyrosine kinase in b-cells, patients with XLA have low or no measurable serum levels of all immunoglobin types. 1 These patients need a lifelong substitution of immunoglobin and recurrent antibiotic therapy to prevent or to treat a potentially life-threatening bacterial infection. There is currently no other standard therapy. Consequently, our patient received monthly injections of immunoglobulins (Intraglobin F®, Intratect®) by his primary care physician. In addition, the patient was admitted to our hospital in intervals of 4 months for intravenous antibiotics (e.g., flucloxacillin, ampicillin/sulbactam, doxycycline, azithromycin, and meropenem) at least since 2001 according to the available documentation. The systemic antibiotic medication has changed over the years purportedly by chance due to lack of documentation. Over the years, several non-ophthalmological diseases were recorded. As the leading problem, chronic obstructive bronchitis with increasing bronchiectasis in the lower lobes was described. Additionally, there were dermatological problems with an infectious eczema (S. aureus) in different body locations, and a nasopharyngeal focus through a chronic sinusitis and temporarily through tonsillitis. Episodes of diarrhea were also reported. Nevertheless, the regular medications aforementioned probably avoided a severe infection such as it was expected in patients with XLA or other immunodeficiencies.
Chronic immune thrombocytopenia in a child with X-linked agammaglobulinemia-an uncommon phenotype
Published in Platelets, 2022
Jing Yin, Jijun Ma, Xiaoxue Liu, Jingyue Xia, Qi Ai, Chongwei Li
X-linked agammaglobulinemia (XLA), which was first described by Bruton in 1952, is caused by mutations in Bruton’s tyrosine kinase (BTK) gene. It is one of the most common primary immunodeficiency diseases (PIDs) that is characterized by an increased susceptibility to bacterial and enteroviral infections because of the absence of peripheral mature B cells and profound hypogammaglobulinemia. In addition to frequent and/or severe infections, autoimmune diseases can also be associated with XLA. However, owing to the defective production of antibodies, autoimmunity in XLA is observed less frequently than in the other PIDs. Although several cases of immune thrombocytopenia (ITP) have been reported, to the best of our knowledge, chronic or persistent ITP in XLA has not been presented in detail in previous studies [1,2]. Herein, we describe a case of a small boy with XLA and chronic ITP.
Selective inhibition of thromboinflammation in COVID-19 by Btk inhibitors
Published in Platelets, 2020
Wolfgang Siess, Philipp Von Hundelshausen, Reinhard Lorenz
Despite the attractive profile of Btk-inhibitor effects on platelets and myeloid cells that could counteract detrimental derangements in severe COVID-19, any future clinical study of Btk-inhibitors in COVID-19 must take into account that Btk plays a central role in B-cell function, proliferation, and replication. The obvious evidence is the clinical picture of X-linked agammaglobulinemia (XLA) caused by genetic Btk-deficiency. Taking into account the dysfunctional immunity associated with chronic lymphocytic leukemia (CLL) and other B-cell dyscrasias, in a small case series of CLL-patients on ibrutinib SARS-Cov2 infection ran an unexpected mild course [28]. Apparently, antiviral antibody generation by B-cells of COVID-19 patients was not critically compromised by CLL-doses of ibrutinib or other mechanisms of immunity were sufficient in these patients. Ibrutinib had previously been shown to partially reconstitute humoral immunity and reduce infections in CLL patients [29].