RT Journal Article
T1 Clinical and Immunological Features of Human BCL10 Deficiency
A1 Garcia Solis, Blanca
A1 Allende Martínez, Luis Miguel
A1 Fernández Arquero, Miguel
A1 Sánchez Ramón, Silvia María
A1 Recio Hoyas, María José
A1 Pérez de Diego, Rebeca
AB The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. However, the scarcity of BCL10 deficient patients has prevented gaining detailed knowledge about this genetic disease. Only two patients with BCL10 deficiency have been reported to date. 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). 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. 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 TFH cells. The patient had recurrent respiratory infections since early childhood, and showed a family history of lethal severe infectious diseases. Fortunately, hematopoietic stem-cell transplantation (HSCT) cured her. 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.
PB FRONTIERS MEDIA SA
SN 1664-3224
YR 2021
FD 2021-11-12
LK https://hdl.handle.net/20.500.14352/92662
UL https://hdl.handle.net/20.500.14352/92662
LA eng
NO Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, Al-Ayoubi A, Alazami AM, Lorenzo L, Cubillos-Zapata C, López-Collazo E, Pérez-Martínez A, Allende LM, Markle J, Fernández-Arquero M, Sánchez-Ramón S, Recio MJ, Casanova JL, Mohammed R, Martinez-Barricarte R, Pérez de Diego R. Front Immunol. 2021 Nov 12;12:786572.
NO FIS (Fondo de Investigación Sanitaria)
NO National Center for Advancing Translational Sciences
NO CAM (Comunidad Autónoma de Madrid)
NO Vanderbilt University Medical Center
DS Docta Complutense
RD 20 ago 2024