We have discovered a previously unpublished HLA-DRB1 allele, observed in a patient (SB), his mother, and one sibling. The undefined allele gave sporadic positive reactions with sera in the DR52-associated group. SSOPH analysis utilizing both generic and group specific primers and probes also gave ambiguous results. SB typed clearly as a DRB1*0301 (paternal allele) but the DNA from SB also bound probes specific for DRB1*14 and DRB1*11. Sequencing revealed that the undefined allele was similar to a DRB1*14 allele with a segment of sequence found in DRB1*11 alleles. The patient was MLC reactive with donors who express DRB1*0301, *1401 and *0301, *11 and was nonreactive solely to DRB1*0301 (Dw3) homozygous typing cells.
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http://dx.doi.org/10.1111/j.1399-0039.1995.tb02429.x | DOI Listing |
Curr Opin Hematol
November 2024
Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center.
Purpose Of Review: DDX41 mutations are the most common cause of germline predisposition to adult-onset myeloid neoplasms. The unique mutational landscape and clinical features indicate a distinct molecular pathogenesis, but the precise mechanism by which DDX41 mutations cause disease is poorly understood, owing to the multitude of DDX41 functions. In this review, we will update DDX41's known functions, present unique clinical features and treatment considerations, and summarize the current understanding of the molecular pathogenesis of the disease.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Human Genetics, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.
Undifferentiated embryonal sarcoma of the liver is a rare mesenchymal malignancy that predominantly occurs in children. The relationship between this tumor entity and germline pathogenic variants (PVs) remains undefined. Here, we present the clinical case of a male patient diagnosed with undifferentiated embryonal sarcoma of the liver.
View Article and Find Full Text PDFIn Brief: The HIPPO signaling effectors YAP1 and WWTR1 are required for murine pregnancy initiation, and mutation of these factors compromises the decidualization response and overall pregnancy success.
Abstract: Endometrial stromal cell decidualization is required for pregnancy success. Although this process is integral to fertility, many of the intricate molecular mechanisms contributing to decidualization remain undefined.
Croat Med J
October 2024
Savaş Gegin, Samsun Training and Research Hospital, 55090 İlkadım/Samsun, Turkey,
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. Here, we report on a 35-year-old woman diagnosed with Kartagener's syndrome and subsequently referred for bronchiectasis testing.
View Article and Find Full Text PDFJ Immunother Cancer
October 2024
Pathology and Medicine, The University of Chicago Biological Sciences Division, Chicago, Illinois, USA
Background: Individuals with a loss-of-function single-nucleotide polymorphism in the gene encoding PTPN22 have an increased risk for autoimmune diseases, and patients with cancer with such alleles may respond better to checkpoint blockade immunotherapy. Studies in PTPN22 knockout (KO) mice have established it as a negative regulator of T cell responses in cancer models. However, the role of PTPN22 in distinct immune cell compartments, such as dendritic cells (DCs), remains undefined.
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