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10,874 Possible Causes for ADULT, ARG1563HIS, Chediak Higashi, SYNDROME,, TYPE

  • Infectious Mononucleosis

    IM-like syndrome can be caused by various drugs, including SASP, and the concept of drug-induced hypersensitivity syndrome has been proposed recently.[ncbi.nlm.nih.gov] Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis.[dx.doi.org] Although MALT type lymphoma rarely affected young adults, notably, a number of cases have been reported in the tonsil.[ncbi.nlm.nih.gov] OBJECTIVES: To determine the risk factors for severe infectious mononucleosis (IM) occurrence in immunocompetent adults.[ncbi.nlm.nih.gov] EBV is rather uncommonly confirmed as an etiologic agent of acute hepatitis in adults.[ncbi.nlm.nih.gov]

    Missing: ARG1563HIS
  • Griscelli Syndrome, Type 1

    […] hemophagocytic syndrome * Pancytopenia - due to hemophagocytic syndrome * Fever - due to hemophagocytic syndrome * Jaundice - due to hemophagocytic syndrome * Neurological[checkorphan.org] Chediak-Higashi Syndrome; CHS. Entry Number; 214500: Available at Last Edit Date 10/07/2013. Accessed June 16, 2015. Brooks DG. Chediak-Higashi syndrome.[rarediseases.org] Jul, 2003 Pubmed ID: 12870761 A Novel leichte Schäden Paradigm for Use in Retinal Regeneration Studies in Adult Zebrafisch Jennifer L.[jove.com] Khan I, Ahmed SA, Khan A B (2007) Case Report Griscelli syndrome in a young adult: A case report with the review of literature.[omicsonline.org] Intriguingly, there appear to be single copy mutations in the gamut of fHLH genes in a substantial percentage of children and adults with the much more common disorders of[jimmunol.org]

    Missing: ARG1563HIS
  • Chediak Higashi Syndrome

    CHEDIAK-HIGASHI SYNDROME Chédiak-Higashi-Steinbrink syndrome CHEDIAK-HIGASHI SYNDROME; CHS ChC)diak-Higashi-Steinbrink syndrome Chédiak-Higashi syndrome edit English Chediak-Higashi[wikidata.org] This supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein.[ncbi.nlm.nih.gov] We describe the oldest known CHS patient first seen with a neurologic disorder in early adult life.[ncbi.nlm.nih.gov] Here, we describe the organization and genomic DNA sequence of the CHS1 gene and mutation analysis of 21 unrelated patients with the childhood, adolescent, and adult forms[ncbi.nlm.nih.gov] Amyloid deposits, which have not been reported previously in human Chediak-Higashi syndrome, were systemically noted and were immunohistochemically revealed to be AA type[ncbi.nlm.nih.gov]

    Missing: ARG1563HIS
  • Griscelli Syndrome, Type 2

    [A hemophagocytic syndrome revealing a Griscelli syndrome type 2]. Ann Biol Clin (Paris). 2013;71 (4) :461-4.[scholar.um5.ac.ma] Chediak-Higashi Syndrome; CHS. Entry Number; 214500: Available at Last Edit Date 10/07/2013. Accessed June 16, 2015. Brooks DG. Chediak-Higashi syndrome.[rarediseases.org] […] syndrome Griscelli-Pruni ras syndrome type 1 edit English Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation[wikidata.org] Adult Chediak-Higashi parkinsonian syndrome with dystonia . Mov Disord. 2000 ;15: 705 - 708 . Google Scholar Crossref Medline Ballard R. , Tien RD , Nohria V. , Juel V.[journals.sagepub.com] Khan I, Ahmed SA, Khan A B (2007) Case Report Griscelli syndrome in a young adult: A case report with the review of literature.[omicsonline.org]

    Missing: ARG1563HIS
  • Oculocutaneous Albinism

    None of 14 well-known types of albinism, including Hermansky-Pudlak syndrome and Chediak-Higashi syndrome, nor any other genetic syndrome, characterizes our patients sufficiently[ncbi.nlm.nih.gov] The LYST gene is know to be associated with Chediak-Higashi syndrome (CHS).[asperbio.com] All four types of OCA are inherited as autosomal recessive disorders.[ncbi.nlm.nih.gov] RESULTS: ERG amplitudes were reduced only in the central 5 to 10 degrees compared with adult norms.[ncbi.nlm.nih.gov] No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6. Published by Elsevier Inc.[ncbi.nlm.nih.gov]

    Missing: ARG1563HIS
  • Hermanski-Pudlak Syndrome

    Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid[ncbi.nlm.nih.gov] The LYST gene is know to be associated with Chediak-Higashi syndrome (CHS).[asperbio.com] PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex[ncbi.nlm.nih.gov] […] is Hermansky-Pudlak Syndrome?[dovemed.com] These data show that children and young adults with HPS-2 and functional defects of the AP-3 complex are at risk for ILD and pulmonary fibrosis.[ncbi.nlm.nih.gov]

    Missing: ARG1563HIS
  • Velocardiofacial Syndrome

    Abstract Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2.[ncbi.nlm.nih.gov] Awareness of the possibility of increased prevalence of ADHD in VCFS, particularly of the inattentive type, is important because it is likely to be overlooked by parents and[ncbi.nlm.nih.gov] DESIGN: A cross-sectional quantitative structural magnetic resonance imaging study in 39 adult subjects.[ncbi.nlm.nih.gov] Thus, although familial VCFS seems to be associated with a milder physical phenotype than nonfamilial VCFS, the neuropsychiatric deficits are significant in both types, at[ncbi.nlm.nih.gov] METHODS: We report two cases of adults with VCFS and primary generalized epilepsy.[ncbi.nlm.nih.gov]

    Missing: ARG1563HIS
  • Griscelli Syndrome, Type 3

    […] basis in mutation in the MLPH or MYO5A genes GS3 Griscelli-Pruniéras syndrome type 3 Griscelli-Pruni ras syndrome type 3 edit English Griscelli syndrome type 3 Griscelli[wikidata.org] Chediak-Higashi Syndrome; CHS. Entry Number; 214500: Available at Last Edit Date 10/07/2013. Accessed June 16, 2015. Brooks DG. Chediak-Higashi syndrome.[rarediseases.org] Adult Human Brain Tissue Gene Expression Profiles dataset.[amp.pharm.mssm.edu] Griscelli syndrome type-3.[idoj.in] Khan I, Ahmed SA, Khan A B (2007) Case Report Griscelli syndrome in a young adult: A case report with the review of literature.[omicsonline.org]

    Missing: ARG1563HIS
  • Oculocutaneous Albinism, Type 2

    […] sclerosis 302 Management of craniofacial syndromes 315 Craniosynostosis syndromes 317 Less common syndromes 318 SaethreChotzen syndrome 323 Branchial arch and facelimb syndromes[books.google.de] […] deficiency ( E29.1 ) Metabolic disorders E70.32 ICD-10-CM Diagnosis Code E70.32 Oculocutaneous albinism 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes Chediak-Higashi[icd10data.com] Resources - Oculocutaneous albinism type 2 Not supplied.[checkorphan.org] Adult visual acuity usually ranges from 20/60-20/100 and does not worsen over time. Iris color ranges from blue to brown.[orpha.net] Nystagmus never completely disappears, even in adults, although most adults with nystagmus are able to control it to a significant extent. 8.)[visionofchildren.org]

    Missing: ARG1563HIS
  • Albinism

    The pathoetiology and treatment of Woakes' syndrome as well as of albinism were discussed.[ncbi.nlm.nih.gov] PURPOSE OF REVIEW: Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago.[ncbi.nlm.nih.gov] Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.[ncbi.nlm.nih.gov] RESULTS: ERG amplitudes were reduced only in the central 5 to 10 degrees compared with adult norms.[ncbi.nlm.nih.gov] Children and adults with albinism in sub-Saharan Africa face multiple challenges which restrict their daily lives.[advantageafrica.org]

    Missing: ARG1563HIS