Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
نویسندگان
چکیده
منابع مشابه
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggestive of trichorrhexis nodosa. With advancing age, moderate global developmental delay, susceptibil...
متن کاملTrichohepatoenteric syndrome: founder mutation in asian indians.
Trichohepatoenteric syndrome (THES) is characterized by chronic diarrhea, dysmorphic facies and hair abnormalities. Hepatic involvement varies from no abnormality to cirrhosis and hemochromatosis. Recently, mutations in the tetratricopeptide repeat domain 37 (TTC37) gene were identified to cause THES. The c.2808G>A variation was suggested as a possible founder mutation among the South Asians. W...
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Introduction: Psychosocial consequences of Humanity Immunity Virus infection may create more problems than disease itself. One of the psychosocial consequences of perceived social stigma in patients with acquired immunodeficiency syndrome is decrease of self-esteem, because this disease has numerous negative effects on self-esteem of patients through cognitive and psychological changes. Obje...
متن کاملSevere combined immunodeficiency presented with septic arthritis: A case report
Severe combined immunodeficiency is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T-lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. Without intervention, the T and B-cell dysfunction usually results in severe infection and death in ...
متن کاملCorrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
[This corrects the article on p. 2 in vol. 3, PMID: 25688341.].
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2018
ISSN: 1664-3224
DOI: 10.3389/fimmu.2018.01036