Ontology highlight
ABSTRACT:
SUBMITTER: Liu Q
PROVIDER: S-EPMC5743603 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Liu Qian Q Li Zhanzhuo Z Y Yang Alexander A Gao Ji-Liang JL S Velez Daniel D J Cho Elena E McDermott David H DH Murphy Philip M PM
Journal of clinical immunology 20171124 1
WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. Originally diagnosed incorrectly with autoimmune neutropenia, the patient underwent splenectomy at age 9, but the absolute neutrophil count (ANC) did not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 <sup>R334X</sup> , and 163 other genes, on chromosome 2 in a singl ...[more]