A 19-year-old female patient with gonadal dysgenesis and a de novo t(X;17) (Xp17q;Xq17p) is described. Since the critical segment Xq13----q26 was intact, this case is a further exception to the critical region hypothesis.
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High rates of MHC mismatches in HLA matched unrelated donor/recipient pairs and potential impact on hematopoietic cell transplant outcome.
Hum Immunol
January 2025
Diagnostic Laboratories and Blood Research Institute, Versiti, Milwaukee, WI, USA. Electronic address:
Introduction: Donors for patients requiring hematopoietic cell transplant (HCT) are selected based on matching genetic sequences encoding the antigen recognition domain of specific HLA loci. However, differences in transplant outcomes in fully matched unrelated HCT compared with sibling HCT suggest that other genetic regions within the major histocompatibility complex (MHC) may contribute to HCT outcomes.
Methods: We sequenced the non-classical MHC loci (NCML) HLA-E, -F, -G, -H, MICA and MICB on a well-characterized retrospective cohort of 157 unrelated donor/recipient HCT pairs to determine the extent of MHC mismatching in matched pairs.
The role of non-classical and chain-related human leukocyte antigen polymorphisms in laryngeal squamous cell carcinoma.
Mol Biol Rep
September 2023
Department of Clinical Immunology, Medical Faculty, Medical University, Sofia, Bulgaria.
Background: Laryngeal squamous cell carcinoma (LSCC) is the major pathological subtype of laryngeal cancer. It has been shown that alterations of the expression of non-classical human leukocyte antigens (HLA) and the chain-related MIC molecules by malignant cells can lead to escape from the immune system control and certain allele variants may participate in immune editing and therefore be associated with modulation of cancer risk. The aim of the present study was to investigate the role of non-classical HLA class Ib and chain-related MIC polymorphisms, determined at the allelic level by next-generation sequencing (NGS), in patients from the Bulgarian population, diagnosed with LSCC.
View Article and Find Full Text PDFThe natural history of antibody responses to Cryptosporidium parasites in men at high risk of HIV infection.
J Infect Dis
November 2006
Division of Parasitic Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Background: Although the clinical severity of cryptosporidiosis is altered by human immunodeficiency virus (HIV)-related immunosuppression, little is known about how risk for Cryptosporidium infection is altered by HIV.
Methods: A retrospective cohort study was conducted among 78 participants of the San Francisco Men's Health Study, using stored serological specimens from 8.5 years of follow-up.
Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the mit transcription factor family.
Am J Clin Pathol
September 2006
Department of Pediatrics, Division of Haematology/Oncology, Division of Pathology, Hospital for Sick Children, Toronto, Canada.
We describe the clinical features, outcome, pathology, cytogenetics, and molecular aspects of 13 pediatric papillary renal cell carcinomas during a 19-year period. Seven cases (54%) had translocations involving Xp11.2 (TFE3).
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