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Diagnosis of immune deficiency diseases
Published in Gabriel Virella, Medical Immunology, 2019
John W. Sleasman, Gabriel Virella
Immunoglobulin assay is a fundamental element in the classification of immunodeficiencies (Table 28.3). A quantitative depression of one or more of the three major immunoglobulin isotypes is considered as compatible with a diagnosis of humoral immunodeficiency. If all immunoglobulin classes are depressed, the condition is designated as hypogammaglobulinemia. If the depression is very severe, and the combined levels of all three immunoglobulins are below 200 mg/dL, the patient is considered as having agammaglobulinemia.
Concepts of Replacement Therapy: Blood Components, Blood Derivatives, and Medications
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Immune globulin was introduced as a plasma derivative in the 1950s as an intramuscular preparation as a mode of therapy for patients with a primary humoral immune deficiency. An intravenous form (IVIg) became available in the 1980s to circumvent the limitations of the intramuscular preparation, including pain of injection, limited volume of injections with reduced dosage, inconsistent absorption, and anaphylactic reactions. These products are also prepared by fractionation of pooled human plasma.
Infection and Immunity
Published in Calver Pang, Ibraz Hussain, John Mayberry, Pre-Clinical Medicine, 2017
Calver Pang, Ibraz Hussain, John Mayberry
A 32-year-old female presents to you with a history of recurrent respiratory infections for the past six months. There have been two occasions that have resulted in hospital admissions. You suspect this patient has humoral immune deficiency.
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
A fast diagnosis and therapy of a keratoconjunctivitis is of high importance if corneal vascularization and clouding are threatening visual acuity. In case of unspecific symptoms, a broad diagnostic approach is necessary to take ocular causes and general diseases into consideration at the same time. There is a wide range of systemic disorders, which can also cause changes in the cornea. Exemplarily, viral and bacterial infections, endocrine diseases and storage disorders are possible. Autoinflammatory and infectious diseases might be additional reasons. In single cases, it becomes more difficult to distinguish corneal affections from a systemic disorder if the relationship is not well known and more than one reasons are possible for the corneal changes. During the single steps of diagnosis also a systemic disorder like a primary immunodeficiency should be considered in case of a chronic keratoconjunctivitis – especially in children or young patients. If a humoral immunodeficiency is suspected, genetic tests for identification of mutations should be conducted in the patient as well as in members of the family.
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS)
Published in Immunological Investigations, 2022
Saba Fekrvand, Samaneh Delavari, Zahra Chavoshzadeh, Roya Sherkat, Seyed Alireza Mahdaviani, Mahnaz Sadeghi Shabestari, Gholamreza Azizi, Mohammad Taghi Arzanian, Bibi Shahin Shamsian, Shabnam Eskandarzadeh, Narges Eslami, William Rae, Antonio Condino-Neto, Javad Mohammadi, Hassan Abolhassani, Reza Yazdani, Asghar Aghamohammadi
According to our findings, patients with more than 4 years of delay in diagnosis were significantly older than those with lower than 4 years of delay in diagnosis. This difference could be due to the novelty of APDS as it has been recognized less than a decade from its first description in 2013 (Angulo et al. 2013). Moreover, confirming this disorder needs genetic analysis, typically by WES, for a diagnosis as phenotypic similarities are present in several other monogenic disorders associated with humoral immunodeficiency. Although affected patients are being diagnosed more rapidly and in earlier stages of the disease compared to previous years, further studies and guidelines are required for a better and more precise comprehensive management of APDS, including defining when and if PI3Kδ inhibitor therapy is warranted.
Phosphatidylinositol 3-kinase signaling and immune regulation: insights into disease pathogenesis and clinical implications
Published in Expert Review of Clinical Immunology, 2021
Tina Nguyen, Elissa K Deenick, Stuart G Tangye
While the heterozygous exon-skipping variants in PIK3R1 reported in 2013–2014 [15,16] confirmed the need for PI3K regulation in immune homeostasis, the role of PI3K in human B cells was initially and unequivocally established in 2012 by the identification and characterization of a single individual with homozygous PIK3R1 variants [78]. This has been confirmed by the recent identification of two siblings [79] who, like the initial patient, harbored a homozygous nonsense variant in PIK3R1, resulting in an isoform-specific loss of p85α. Importantly, p85α contributes to the stability of p110 [4]. Indeed, all three patients with homozygous PIK3R1 variants expressed lower levels of p110δ. Therefore, the homozygous loss of p85α essentially results in a ‘double knockout’ of these PI3K regulatory and catalytic subunits. These patients completely lacked B cells and had agammaglobulinaemia [78,79]. Thus, all three individuals required Ig replacement therapy for their humoral immunodeficiency, which included recurrent infections from infancy and diverse autoimmune complications (thrombocytopenia, neutropenia, interstitial pneumonia, irritable bowel disease) [78,79]. Collectively, these cases confirmed a non-redundant role for p85α in human humoral immunity, particularly during B cell development. Biallelic variants in PIK3R1 phenocopy patients with X-linked agammaglobulinemia due to BTK-deficiency [80–82], reiterating the critical role of BTK/PI3K in BCR signaling and B cell biology.