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Updated: Jun 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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一个患有同卵性FNIP1变异的患者的临床和免疫学特征

Selami Ulaş1, Sezin Naiboğlu1, İsa Özyilmaz2

  • 1Department of Pediatric Allergy and Immunology.

Journal of pediatric hematology/oncology
|May 15, 2024
PubMed
概括

毛素相互作用蛋白1 (FNIP1) 缺乏会导致严重的B细胞缺陷和血糖球蛋白. 这种新型的免疫疾病还表现为高性心肌病,在一个案例中,脑小脑后部的低成形.

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相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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