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Dermal filler complications and management
Published in Michael Parker, Charlie James, Fundamentals for Cosmetic Practice, 2022
Primary immunodeficiency disorders (PIDs) arise from genetic mutations and are present from birth. At the time of publishing, there are more than 300 recognised PIDs, with an incidence of approximately between one in 500 and one in 1200 live births. The human immune system is a multifaceted and complex system, and genetic mutations causing PIDs can affect any of the steps involved in mounting an appropriate immune response, including both the innate and adaptive immune systems. Table 13.3 has a table of some of the more common PIDs and which areas of the immune system are compromised in them.
Pneumocystis carinii
Published in Peter D. Walzer, Robert M. Genta, Parasitic Infections in the Compromised Host, 2020
Peter D. Walzer, C. Kurtis Kim, Melanie T. Cushion
Spread of P. carinii beyond the lungs appears to be quite uncommon. The organism was found in the spleen of 1 of 19 children with cancer who died from pneumocystosis, but not in the spleen or lymph modes of 200 institutionalized infants who succumbed to the disease (79,408). At least 20 cases of disseminated pneumocystosis have been reported in the literature (122). The 14 non-AIDS patients had a variety of underlying diseases, particularly primary immune deficiency disorders (12,29,408-415). Major sites of extrapulmonary involvement were lymph node, bone marrow, spleen, and liver; multiorgan involvement also occurred. The six cases of documented pneumocystosis in AIDS patients have been reported only recently (415-420). The precise frequency of extrapulmonary spread of P. carinii in AIDS is unclear, but the sites of involvement may be different. For example, the organism has been associated with auditory polyps and an intestinal mass presenting as an acute abdomen. In some locations (e.g., retina, brain) there has been controversy as to whether the organisms found actually represents, P.carinii (418,419,421,422).
Inherited Defects in Immune Defenses Leading to Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
The X-linked inheritance of ISID and other primary immunodeficiency disorders raises certain issues. The three known loci for Ig constant region genes are all on autosomes: variable region genes are linked closely to the constant region loci. The gene locus on the X chromosome which determines ISID, therefore, must be a locus for genes which regulate or affect immune function rather than the structural genes for the Ig chains [63]. Experimental data support the involvement of the X chromosome in control of the immune response [64].
A new case of congenital ficolin-3 deficiency with primary immunodeficiency
Published in Expert Review of Clinical Immunology, 2020
Fateme Babaha, Hassan Abolhassani, Zahra Hamidi Esfahani, Reza Yazdani, Asghar Aghamohammadi
Given the novelty of the deficiency, no specific therapeutic approach is available; thus current treatment modalities are for alleviating symptoms and controlling the patients’ conditions. No doubt, achieving specific therapeutic approaches requires a comprehensive understanding of the FCN3 gene mechanism as well as environmental and regulatory factors affecting the expression of this gene with detection of more patients. However, the process of patient diagnosis should be improved by adjustment of current cutoff for genetic diagnosis, since founder mutation of FCN3 deficiency has MAF higher than 1% in most population databases. This notion could be considered more generally in the context of genetic diagnosis of primary immunodeficiency disorders since majority of cases (>60% of all registered worldwide) remained without monogenic defects after next generation sequencing. Therefore, pathogenic variants associated with immune gene defects that can present with MAF in the range of polymorphisms should be listed and included in the bioinformatic pipelines.
CTLA4 haploinsufficiency as a predisposition to classical Hodgkin lymphoma
Published in Pediatric Hematology and Oncology, 2020
Upendra Mahat, Meryem K. Terzioglu, Ilia Buhtoiarov
In view of the impaired immune surveillance by lymphocytes, primary immunodeficiency disorders (PID) are known to predispose to development of various malignancies.12 The role of immune microenvironment, especially the nonmalignant T cells in cHL pathogenesis is rather complex. Aside from the malignant RSC, cHL tumor microenvironment is made up of multiple other immune cells including T cells, nonmalignant B cells, plasma cells, neutrophils, eosinophils and stromal cells. The increased incidence of lymphoma in patients with PIDs and those receiving long-term immunosuppressive therapy suggests the fact that T cells participate in controlling process of lymphomatous transformation.13–15 However, the function of tumor infiltrating T cells appears to be impaired, as they densely rosette around but fail to clear the malignant RS cells.16 Similarly, the lymphocytes isolated from cHL patients demonstrate impaired proliferative response to mitogen stimulation in vitro.17
Cytomegalovirus viremia and resistance patterns in immunocompromised children: An 11-year experience
Published in Pediatric Hematology and Oncology, 2020
Edward Kim, Basim I. Asmar, Ronald Thomas, Nahed Abdel-Haq
Patients aged newborn to 21 years who were treated at Children’s Hospital of Michigan at Detroit Medical Center for CMV viremia during an 11-year period (January 2007 to January 2017) were included in the study. The Children’s Hospital of Michigan is a tertiary care teaching pediatric hospital with a 220-bed capacity. We included patients who were immunocompromised due to oncologic processes or organ transplantation, patients with primary immunodeficiency disorders, as well as acquired immunodeficiency disorders including Human Immunodeficiency virus (HIV) infection and those receiving cancer chemotherapy or immunosuppressive therapy. Congenital CMV patients were excluded. For this study we reviewed the demographic features of the patients, laboratory findings including microbiologic data as well as radiological studies. We also reviewed response to treatment and outcome. Collected data were analyzed to determine the prevalence and genotype/resistance pattern of CMV viremia strains, and antiviral treatment agents used.