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1.
Br J Haematol ; 203(4): 678-683, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37646304

RESUMO

Increasing evidence suggests multilineage cytopenias (also known as Evans syndrome) may be caused by inborn errors of immunity (IEI) with immune dysregulation. We studied a patient with autoimmune haemolytic anaemia and immune thrombocytopenia and identified a germline mutation in SASH3 (c.862C>T;p.Arg288Ter), indicating a recently identified IEI. Immunohistochemistry performed after clinically indicated splenectomy revealed severe hypoplasia/absence of germinal centres. The autoimmune phenotype was associated with an increased CD21low T-bet+ CD11c+ subset along with decreased regulatory T cells, impaired T-cell proliferation and T-cell exhaustion. The younger brother carries the same SASH3 mutation and shares immunophenotypic features but is currently clinical asymptomatic, indicating heterogeneity of SASH3 deficiency.


Assuntos
Anemia Hemolítica Autoimune , Púrpura Trombocitopênica Idiopática , Trombocitopenia , Masculino , Humanos , Anemia Hemolítica Autoimune/genética , Trombocitopenia/genética , Mutação
2.
Microbiol Resour Announc ; 13(1): e0097623, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38018846

RESUMO

Here, we report the complete genome of Bordetella parapertussis strain 400431-b isolated from a nasopharyngeal swab from a 4-year-old patient presenting with a protracted course of whooping cough, vaccinated with three doses of diphtheria-tetanus-acellular pertussis-hepatitis B-poliomyelitis-Haemophilus influenzae type b vaccine.

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