新型 STAT1 功能增益突变表现为联合免疫缺陷。
关键词: Chronic mucocutaneous candidiasis Combined immunodeficiency Common variable immunodeficiency Hematopoietic stem cell transplant STAT1 gain of function
Mesh : Candidiasis, Chronic Mucocutaneous / etiology DNA Mutational Analysis Female Gain of Function Mutation Genetic Association Studies Genetic Predisposition to Disease Hematopoietic Stem Cell Transplantation Heterozygote Humans Immunoglobulin A / blood Immunoglobulin G / blood Pedigree Phenotype STAT1 Transcription Factor / genetics Severe Combined Immunodeficiency / complications diagnosis genetics therapy Tomography, X-Ray Computed Young Adult
来 源:
DOI:10.1007/s10875-018-0554-3
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