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599 Possible Causes for Gaucher Disease, Immunodeficiency Is Progressive

  • Anemia

    […] from HIV infection to autoimmune immunodeficiency syndrome (AIDS), with a correlation between CD4 T-lymphocyte counts and Hb levels. 7,16 The causes of anemia in HIV/AIDS[ajmc.com] Pancytopenia may be caused by intrinsic [bone marrow aplasia, leukemia, myelodysplastic syndrome (MDS) or myelofibrosis] or extrinsic (metastasis, Gaucher disease and other[dx.doi.org] […] virus (HIV)–infected patients can have serious implications, which vary from functional and quality-of-life decrements to an association with disease progression and decreased[academic.oup.com]

  • Thrombocytopenia

    Patients with Chédiak-Higashi syndrome have severe immunodeficiency due to abnormal lymphocyte lytic granules and progressive neurologic degeneration.[merck.com] disease Platelets become diluted Massive red blood cell replacement or exchange transfusion; stored red blood cells do not contain very many platelets Use or destruction[msdmanuals.com] […] in storage disorders (like Gaucher's disease ).[healthcentral.com]

  • Neuronal Ceroid Lipofuscinosis

    […] cardiomyopathy Progressive non-fluent aphasia Progressive osseous heteroplasia Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia Progressive pseudorheumatoid[csbg.cnb.csic.es] […] syndrome and late manifesting forms of several other lysosomal storage disorders (GM2 gangliosidosis, Gaucher disease and Niemann-Pick type C disease; see these terms).[orpha.net] Gaucher disease type I accounts for more than 90% of cases of Gaucher disease ( 40, 41 ).[ncbi.nlm.nih.gov]

  • Encephalopathy

    HIV encephalopathy ( HIV-related encephalopathy ) a progressive primary encephalopathy caused by infection with human immunodeficiency virus type I, manifested by a variety[medical-dictionary.thefreedictionary.com] HIV encephalopathy, HIV-related encephalopathy AIDS encephalopathy; a progressive primary encephalopathy caused by human immunodeficiency virus type 1 infection, manifested[medical-dictionary.thefreedictionary.com] […] progressing to global dementia. hepatic encephalopathy a condition, usually occurring secondary to advanced liver disease, marked by disturbances of consciousness that may progress[medical-dictionary.thefreedictionary.com]

  • Hepatosplenomegaly

    Distinct risk factors for intrauterine and intrapartum human immunodeficiency virus transmission and consequences for disease progression in infected children.[ncbi.nlm.nih.gov] For Gaucher's disease, enzyme supplementation and substrate deprivation constitute effective therapeutic options.[ncbi.nlm.nih.gov] Gaucher's disease. Indian J Endocrinol Metab. 2011; 15 :182–6. [ PMC free article ] [ PubMed ] 5. Grabowski GA. Phenotype, diagnosis and treatment of Gaucher disease.[ncbi.nlm.nih.gov]

  • Oculomotor Apraxia

    , severe motor handicap, and absence of both telangiectasias and immunodeficiency.[ncbi.nlm.nih.gov] Oculomotor apraxia has not been previously reported as the presenting manifestation of Gaucher disease.[ncbi.nlm.nih.gov] A progressive cerebellar ataxia, an oculomotor apraxia, an immunodeficiency, ocular telangiectasias, and malignancies characterize AT.[thieme-connect.com]

  • Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

    Hum Pathol 2004;35:1241-1251 Pineda JA, García-García JA, Aguilar-Guisado M, et al: Clinical progression of hepatitis C virus-related chronic liver disease in human immunodeficiency[karger.com] Gaucher disease (GD) is the most common lysosomal storage disease in humans.[radiopaedia.org] East T and Savin LH : Acase of Gaucher' s disease with biopsy of the typical pingueculae . Br J Ophthalmol 1940, 24 : 611–3. 9.[nature.com]

  • Avascular Necrosis of Genetic Origin

    Unknown Unknown-rare Continuous, starting in infancy with fevers and progressive skin lesions and vasculitic changes.[autoinflammatory-search.org] Causes of avascular necrosis can include long-term steroid use, sickle cell disease, Gaucher disease, gout or diabetes.[bonesmart.org] , including rheumatoid arthritis, Gaucher’s disease, chronic pancreatitis, Crohn’s disease or lupus. 3 What are the symptoms of ON?[orthosportsmed.com]

  • Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

    Liver involvement (20%): Hepatomegaly Skeletal Growth retardation (40%) Scoliosis (30%) Immunodeficiency (Some patients) Recurrent infections Hyperinflammatory state IgA:[neuromuscular.wustl.edu] disease 1.0 P * 355 Gaucher disease 1.3 BP 355 Gaucher disease 1.7 I * 77259 Gaucher disease type 1 1.0 P * 77260 Gaucher disease type 2 0.01 P * 77261 Gaucher disease type[azkurs.org] […] that are treated in this facility: Alpha-mannosidosis Argininemia Beta-mannosidosis Citrullinemia Fabry disease GM1 gangliosidosis GM2 gangliosidosis Galactosemia Gaucher[se-atlas.de]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Liver involvement (20%): Hepatomegaly Skeletal Growth retardation (40%) Scoliosis (30%) Immunodeficiency (Some patients) Recurrent infections Hyperinflammatory state IgA:[neuromuscular.wustl.edu] In Gaucher disease, the effect of treatment on pulmonary disease depends on the case series and the type of Gaucher disease.[err.ersjournals.com] , www.gaucherdisease.org.uk Gaucher Disease, Type II Glucocerebrosidase AR infancy severe www.gaucherdisease.org, www.gaucherdisease.org.uk Gaucher Disease, Type III Glucocerebrosidase[ntsad.org]

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