Heterotrimers composed of B cell CLL/lymphoma 10 (BCL10), mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1), and caspase recruitment domain–containing (CARD) family adaptors play a role in NF-κB activation and have been shown to be involved in both the innate and the adaptive arms of immunity in murine models. Moreover, individuals with inherited defects of MALT1, CARD9, and CARD11 present with immunological and clinical phenotypes. Here, we characterized a case of autosomal-recessive, complete BCL10 deficiency in a child with a broad immunodeficiency, including defects of both hematopoietic and nonhematopoietic immunity. The patient died at 3 years of age and was homozygous for a loss-of-expression, loss-of-function
Juan Manuel Torres, Rubén Martinez-Barricarte, Sonia García-Gómez, Marina S. Mazariegos, Yuval Itan, Bertrand Boisson, Rita Álvarez, Anaïs Jiménez-Reinoso, Lucia del Pino, Rebeca Rodríguez-Pena, Antonio Ferreira, Enrique Hernández-Jiménez, Victor Toledano, Carolina Cubillos-Zapata, Mariana Díaz-Almirón, Eduardo López-Collazo, José L. Unzueta-Roch, Silvia Sánchez-Ramón, Jose R. Regueiro, Eduardo López-Granados, Jean-Laurent Casanova, Rebeca Pérez de Diego
Guidelines: The Editorial Board will only consider letters that we deem relevant and of interest to our readers. We will not post data that have not been subjected to peer review, nor will we post letters that are essentially a reiteration of another letter. All accepted letters will be posted on our website within one week of acceptance. We reserve the right to edit any letter for length, content, and clarity. Authors of all accepted letters will be asked to preview any changes. Authors will be notified by e-mail if their letters were not accepted. As this is a final decision, no appeals will be considered.
Specific requirements: All letters must be 400 words or fewer. You may enter the letter as plain text or HTML. The author's name and e-mail address are required, and will be posted with the letter. All possible conflicts of interest must be noted, even if they are not posted. If you wish to include a figure (keep in mind that non-peer-reviewed data will not be posted), please contact the editors directly at email@example.com.