kascehello.blogg.se

Primary Immunodeficiencies (PIDs) are a heterogeneous group of diseases that are now referred to as inborn errors of immunity (IEI). Overall, this report highlights the importance of early genetic diagnosis for the management of BCL10 deficient patients and HSCT as the recommended treatment to cure this disease. Fortunately, hematopoietic stem-cell transplantation (HSCT) cured her. The patient had recurrent respiratory infections since early childhood, and showed a family history of lethal severe infectious diseases. We showed that in addition to the near absence of memory B and T cells previously reported, this patient displays a reduction in NK, γδT, Tregs, and T FH cells. Using mass cytometry coupled with unsupervised clustering and machine learning computational methods, we obtained a thorough characterization of the consequences of BCL10 deficiency in different populations of leukocytes. Here we provide an in-depth description of an additional patient with autosomal recessive complete BCL10 deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). Only two patients with BCL10 deficiency have been reported to date. However, the scarcity of BCL10 deficient patients has prevented gaining detailed knowledge about this genetic disease. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses.