Hemizygous nonsense variant in the moesin gene (msn) leads to a new autoimmune phenotype of immunodeficiency

HIGHLIGHTS

• who: Andru00e1s L. Kovu00e1cs et al. from the (IPCZD), Poland University Hospital La Paz, Spain have published the research work: Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency, in the Journal: (JOURNAL)

SUMMARY

Typical laboratory findings are persistent lymphopenia, fluctuating neutropenia, decreased CD4+ and CD8+ cell and low CD45RA+ T_cell counts, increased senescent CD8+ cell proportions, impaired T-cell proliferative responses and antibody formation, low levels of circulating NK and B cells, and hypogammaglobulinemia. The DDCT method was used to quantify the differences. frontiersin.org . . .

 



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