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Purine nucleoside phosphorylase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
A patient with deficiency of purine nucleoside phosphorylase (PNP) (Figure 70.1) was reported in 1975 by Giblett and colleagues [1]. The girl was a five-year-old with severe deficiency of T-lymphocyte-mediated immunity. She had had a long series of infections and was found to have marked lymphopenia. Skin tests for delayed hypersensitivity were negative, and her lymphocytes failed to respond to phytohemagglutinin. On the other hand, B-lymphocyte-medicated immunity was normal, as indicated by normal levels of IgA and IgM, an elevated level of IgG and normal antibody responses to immunization. There was a small number of other patients reported [2–6], in each of whom there was selective severe T-cell deficiency. It is now clear that some patients with PNP deficiency may have abnormal B-cell function as well [7, 8]. In these patients, levels of immunoglobulins are reduced.
Self-Recognition and Symmetry in the Immune System
Published in Irun R. Cohen, Perspectives on Autoimmunity, 2020
Yaakov Naparstek, Robert S. Schwartz
The consequences of genetically determined or acquired immune deficiency clearly delineate the functional duality of the immune system. In every instance, from hereditary hypogammaglobulinemia to the acquired immune deficiency syndrome, the infectious complications of these disorders define the underlying immunological deficiency. Infections by microorganisms that require an association with cells are the hallmark of a T-cell deficiency. By contrast, repeated infections by free-living bacteria whose replication cycle is independent of cells indicate hypogammaglobulinemia.5 The first category of infectious agents, concerned with T-cells, consists of all the viruses, most fungi, many tropical parasites, and several bacterial species with an obligatory intracellular life cycle, i.e., Mycobacteriae. The second category, in which B-cells have the dominant role, consists principally of the encapsulated bacteria; Streptococci and Klebsiellae are typical examples.
Lymphocyte and plasma cell malignancies
Published in Gabriel Virella, Medical Immunology, 2019
Juan Carlos Varela, Gabriel Virella
Clinical symptoms are often absent or very mild. Malaise, fatigue, or enlargement of the lymphoid tissues felt by the patient are the most frequent presenting complaints. Physical diagnosis shows enlargement of the lymph nodes, spleen, and liver. Viral infections, such as herpes and herpes zoster, and fungal infections are frequent in these patients, pointing to a T-cell deficiency that is confirmed by the finding of reduced numbers of T cells and reduced responses to T-cell mitogens. The prognosis is determined by the frequency of severe opportunistic infections. Recent data suggest that patients with mutated immunoglobulin, variable heavy-chain gene, or expressing a specific heavy-chain variable region gene (VH3-21) have significantly lower survival rates, probably reflecting that cells with higher degrees of biological abnormalities are less likely to respond to therapy.
Economic burden of congenital athymia in the United States for patients receiving supportive care during the first 3 years of life
Published in Journal of Medical Economics, 2021
Cathleen Collins, Julie J. Kim-Chang, Elena Hsieh, Abigail Silber, Matthew O’Hara, Sarah Kulke, Megan A. Cooper
As a result of their naïve T cell deficiency, patients frequently develop bacterial, viral, and fungal infections involving a range of organs, as well as sepsis7–10. Patients with congenital athymia also have the propensity to develop oligoclonal T cell expansion, frequently described as an “atypical” phenotype that can lead to autologous graft-versus-host disease (GVHD)4,11. Autologous GVHD can cause aberrant immune cell infiltration and organ damage11,12, contributing to increased morbidity and mortality. This phenotype develops at some point after birth and presents with an eczematous rash and associated lymphadenopathy4,11.
Fusariosis: an update on therapeutic options for management
Published in Expert Opinion on Orphan Drugs, 2021
Laila S Al Yazidi, Abdullah M. S. Al-Hatmi
Disseminated infection has poor outcome due to underlying T-cell deficiency or prolonged and profound neutropenia. Dissemination is observed in about 70% of cases of fusariosis among this population. Patients usually have lung and skin involvement; diffuse skin lesions develop which are variable in shape from papular to nodular and with or without central necrosis [2,24]. The skin lesions enhance early diagnosis of disseminated fusariosis in >50% of the reported cases, and precede fungaemia by about 5 days [3,24]. Fungaemia are present in about 60% of disseminated diseases and skin involvement is observed in about 50–80% of these cases [24,25].
Adenosine deaminase deficiency: current treatments and emerging therapeutics
Published in Expert Opinion on Orphan Drugs, 2018
Vy Hong-Diep Kim, Luis Murguia-Favela, Eyal Grunebaum
Patients with defects that completely abrogate ADA activity typically present in the first months of life with recurrent bacterial, viral, fungal, or opportunistic infections that can be fatal if not recognized and treated promptly. Physical examinations often demonstrate signs of these infections, failure to thrive, and absence of lymphatic tissue. Laboratory evaluations reveal progressive decline in the numbers of T, B, and NK lymphocytes, eventually leading to a T-B-NK- SCID phenotype. Responses of T cells to stimulation in vivo and in vitro are markedly decreased, regulatory T cell suppressive activity is depressed [6], and production of antibodies to vaccines and wild-type infections is impaired. The profound T cell deficiency has been attributed to a combination of defective maturation of thymocytes, impaired signaling in T cells, as well as increased apoptosis of thymocytes and T cells. This is also evident by a small dystrophic thymus and reduced T cell receptor excision circles. ADA-deficient infants might also suffer from immune dysregulation, manifesting as Omenn’s syndrome with skin erythroderma, hepatitis, and colitis as well as paradoxical lymphadenopathy and splenomegaly [7]. Other patients might develop autoimmunity leading to hematological cytopenias, diabetes mellitus, and hypothyroidism [8]. A subset of patients might also present with delayed or late manifestations, as described below. Malignancies have also been described at higher frequency, particularly lymphoma [9,10] as well as tumors such as dermatofibrosarcoma [11] and lipoma, which might be attributed to impaired DNA repair [12]. In recent years, because of previously affected family members or through the expanding newborn screening programs for SCID, more ADA-deficient patients are identified shortly after birth, prior to acquiring infections [13].