RT Journal Article
T1 Human BCL10 Deficiency due to Homozygosity for a Rare Allele
A1 Van Den Rym, Ana
A1 Perez de Diego, Rebeca
A1 Sánchez Ramón, Silvia María
A1 Amin Safa, 
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 Springer
SN 0271-9142
SN 1573-2592
YR 2020
FD 2020-02-01
LK https://hdl.handle.net/20.500.14352/92584
UL https://hdl.handle.net/20.500.14352/92584
LA eng
NO Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R. J Clin Immunol. 2020 Feb;40(2):388-398
NO FIS (Fondo de Investigación Sanitaria)
NO CAM (Comunidad Autónoma de Madrid)
NO Fundación Ramón Areces
NO MINECO (Ministerio de Economía y competitividad)
DS Docta Complutense
RD 21 ago 2024