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The Severe Combined Immunodeficiency (scid) Mutation, Chromosome 16
Published in John P. Sundberg, Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
John P. Sundberg, Leonard D. Shultz
Severe combined immunodeficiency occurs in humans as an autosomal recessive trait3,4 or X-linked characteristic4 that is clinically very similar to the mouse scid mutation. Recently, Schwartz et al.19 described five human patients with impaired rearrangement processes at the JH region analogous to the defect in scid/scid mice. Human severe combined immune deficiency may also be associated with a deficiency of adenosine deaminase.2,3 As with scid/scidmice, if human patients are not protected from environmental pathogens, they will die as a result of bacterial, viral, and/or mycotic infections.20
Gene Therapy Clinical Trials for Adenosine Deaminase Deficiency/Severe Combined Immunodeficiency
Published in Eric Wickstrom, Clinical Trials of Genetic Therapy with Antisense DNA and DNA Vectors, 2020
Eriinda M. Gordon, W. French Anderson
Endogenous sequences and transcripts were distinguished from vector sequences using vector-specific markers (Mullen et al., 1996.) Since such longevity was not expected, attempts were made to ascertain the clonal origin of these sequences. Among the 6 successful clones from 7-8 months after the final gene therapy infusion, 5 clones had demonstrable LASN sequences. All 6 clones had measurable ADA activity, suggesting that ADA+ cells have a significant selective advantage in vivo (Table 2.) The genetic source of the endogenous ADA activity in the sixth clone could not be determined. Plausibly, there is another enzyme, normally exhibiting very low adenosine deaminase activity, whose activity may have been induced. Further, there is the possibility of spontaneous revertants of the ADA gene. Both occurrences would be extremely rare, but this observation emphasized the need to use additional tests besides enzymatic activity to test for efficacy of the gene therapy. PCR, RT-PCR, and restriction analyses of DNA and transcript RNAs provide more reliable identification of the product. In the other 5 clones, RT-PCR verified the vector origin of the transcript (Figures 6,7.)
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
Definitive treatment can be achieved by means of bone marrow transplantation. Transfusion therapy was developed in the management of patients with adenosine deaminase deficiency [34]. In PNP, deficiency transfusion therapy has variously been reported to produce partial improvement or no improvement in immune function [35–38]. In an extensive experience with 100 weeks of erythrocyte transfusion therapy in a boy with PNP deficiency, there was a correction of the elevated level of dGTP in erythrocytes and leukocytes, as well as a substantial increase in serum concentrations of urate and decrease in urinary nucleoside content [7]. The immunologic abnormality was partially reversed. However, the overall results of therapy in this disease have been much less effective than in adenosine deaminase deficiency [39].
Clinical presentation of peritoneal tuberculosis
Published in Baylor University Medical Center Proceedings, 2023
Nazli Begum Ozturk, Christos Tsagkaris, Naile Dolek, Raim Iliaz
Laboratory tests showed a mild anemia, with a hemoglobin of 13.0 g/dL (reference range, 13.1–17.2 g/dL), erythrocyte sedimentation rate of 34 mm/h (0–15 mm/h), and C-reactive protein of 34.46 mg/L (<5 mg/L). Abdominal ultrasound revealed the presence of free abdominal fluid and diffuse heterogeneous granular liver parenchyma, supporting the diagnosis of chronic liver disease. Liver tests were within normal limits, and tests for hepatitis A, B, and C and HIV were negative. A diagnostic paracentesis showed a serum ascites albumin gradient (SAAG) of 0.2 g/dL and ascitic fluid white blood cells of 1.70 × 103 cells/dL (91.8% lymphocytes). Ascitic fluid cytology was negative for malignant cells. An ascitic fluid acid-fast bacilli (AFB) test and mycobacterial culture were negative. The adenosine deaminase (ADA) level in ascitic fluid was elevated at 108.5 U/L (0–40 U/L). The Quantiferon test was positive.
A novel variant in severe disease of DADA2: involving vasculitic and haematologic features
Published in Scandinavian Journal of Rheumatology, 2023
G Ayan, B Yagiz, OE Cinar, D Cagdas, DA Ozbek, A Tuncer, KK Oguz, S Ozen, M Alikasifoglu, O Karadag
Laboratory tests showed pancytopenia, with a platelet count of 94 × 109 cells/L, and haemoglobin level 5.8 g/dL, white blood cell count 37 × 103 cells/μL, and absolute lymphocyte count 0.78 × 103 cells/μL. The bone-marrow examination was consistent with a decrease in the erythroid line. Serum folate, vitamin B12, and serum complement levels were normal. The viral and bacterial serology results were all normal. Anti-nuclear antibody was negative. Immunoglobulin (Ig) levels were in the normal range. The serum creatinine level was 2.08 mg/dL. Imaging studies, including chest and abdominal computed tomography (CT), were normal apart from atrophy of the right kidney. Echocardiography showed hypokinesia of the anterior septum and apex, with further assessment with cardiac CT showing a posterolateral coronary artery aneurysm. Brain magnetic resonance imaging (MRI) revealed tiny chronic infarcts in the pons and midbrain, and small infarcts in bilateral thalami and the left corona radiata. There was no acute infarct or haemorrhage in these lesions at the time of imaging, as shown by diffusion-weighted imaging or susceptibility-weighted imaging. The left side of the brainstem was atrophic owing to Wallerian degeneration of the lesion in the left corona radiata, in addition to generalized mild cerebral and moderate cerebellar atrophy (Figure 1 A–D). The adenosine deaminase-2 (ADA2) level was studied afterwards and showed 0.09 mU/g protein [reference level (ref): 130 ± 53.2 mU/g protein].
Shaddock (Citrus maxima) peels extract restores cognitive function, cholinergic and purinergic enzyme systems in scopolamine-induced amnesic rats
Published in Drug and Chemical Toxicology, 2022
Ayokunle O. Ademosun, Adeniyi A. Adebayo, Temitope V. Popoola, Ganiyu Oboh
Adenosine deaminase (ADA) catalyzes the irreversible removal of amine group from adenosine to form inosine. In the purinergic system, ADA serves as an important point of regulation of adenosine level, a purine nucleoside that mediates diverse physiological conditions. Adenosine has been reported to play a neuromodulatory role in the CNS in mammals (Burnstock 2006, Burnstock et al.2011). In this study, it was observed that scopolamine administration increased the activity of ADA, and this effect was prevented by treatment with shaddock peels extract or donepezil. An increase in ADA activity increases the hydrolysis of adenosine to inosine. Thus, the effect of scopolamine on this enzyme leads to increased removal of extracellular adenosine decreasing its levels, which may lead to impairment of the adenosinergic neurotransmission. The depletion of extracellular adenosine can disrupt memory formation since adenosine has been reported as an important neuromodulator in synaptic plasticity (Burnstock et al.2011, Costa et al.2015, Akinyemi et al.2017). The decrease in ADA activity observed in the shaddock peel extract-treated group as shown in Figure 5 suggests possible mechanisms governing shaddock peel extract or donepezil action on cognitive function. This inhibitory effect on brain ADA activity would have a direct or indirect influence on the prevention of adenosine degradation in the CNS.