WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child

نویسندگان

  • Dong Woo Shin
  • Si Nae Park
  • Sung-Min Kim
  • Kyongok Im
  • Jung-Ah Kim
  • Kyung Taek Hong
  • Jung Yoon Choi
  • Che Ry Hong
  • Kyung Duk Park
  • Hee Young Shin
  • Hyoung Jin Kang
  • Hyun Kyung Kim
  • Dong Soon Lee
چکیده

Dong Woo Shin, M.D., Si Nae Park, M.S., Sung-Min Kim, B.S., Kyongok Im, M.T., Jung-Ah Kim, M.D., Kyung Taek Hong, M.D. , Jung Yoon Choi, M.D. , Che Ry Hong, M.D. , Kyung Duk Park, M.D. , Hee Young Shin, M.D. , Hyoung Jin Kang, M.D. , Hyun Kyung Kim, M.D., and Dong Soon Lee, M.D. Department of Laboratory Medicine, Seoul National University College of Medicine; Cancer Research Institute, Seoul National University College of Medicine; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

AMD3100 is a potent antagonist at CXCR4R334X, a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome

WHIM is an acronym for a rare immunodeficiency syndrome (OMIM #193670) caused by autosomal dominant mutations truncating the C-terminus of the chemokine receptor CXC chemokine receptor 4 (CXCR4). WHIM mutations may potentiate CXCR4 signalling, suggesting that the United States Food and Drug Administration (FDA)-approved CXCR4 antagonist AnorMED3100 (AMD3100) (also known as Plerixafor) may be be...

متن کامل

Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?

WHIM syndrome is a condition in which affected persons have chronic peripheral neutropenia, lymphopenia, abnormal susceptibility to human papilloma virus infection, and myelokathexis. Myelokathexis refers to the retention of mature neutrophils in the bone marrow (BM), which accounts for degenerative changes and hypersegmentation. Most patients present heterozygous autosomal dominant mutations o...

متن کامل

CXCL12 Mediates Aberrant Costimulation of B Lymphocytes in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Immunodeficiency

The Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is an immunodeficiency caused by mutations in chemokine receptor CXCR4. WHIM patient adaptive immunity defects remain largely unexplained. We have previously shown that WHIM-mutant T cells form unstable immunological synapses, affecting T cell activation. Here, we show that, in WHIM patients and WHIM CXCR4 knock-in mice...

متن کامل

Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation

We recently reported a 59 year old female, designated WHIM-09, who was born with the rare immunodeficiency disease WHIM syndrome but underwent spontaneous phenotypic reversion as an adult. The causative WHIM mutation CXCR4 (R334X) was absent in her myeloid and erythroid lineage, but present in her lymphoid lineage and in epithelial cells, defining her as a somatic genetic mosaic. Genomic and he...

متن کامل

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12.

The WHIM syndrome is a rare immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. Dominant heterozygous mutations of the gene encoding CXCR4, a G-protein-coupled receptor with a unique ligand, CXCL12, have been associated with this pathology. We studied patients belonging to 3 different pedigrees. Two siblings inherited a CXCR4 mutation encoding...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 37  شماره 

صفحات  -

تاریخ انتشار 2017