Primary immunodeficiencies (IDP) are a diverse group of more than 300 genetic disorders that primarily affect the development and/or the functionality of the immune system. Most of them are monogenic disorders, but the spectrum of the IDP is constantly expanding with the identification of new immunodeficiency syndromes through the generation of technologies of sequencing and clinical understanding.
Patients typically present with increased susceptibility to infections or infections by unusual organisms and can also develop autoimmunity or autoinflamatory diseases and neoplasms. Although the supportive treatments are effective for many of these conditions, the most severe hematopoietic progenitor requires definitive treatment early through a transplant of cells in order to prevent chronic morbidity and early mortality. The study of these diseases, in Mexico, is incipient so our group (mainly consisting of researchers from the National Institute of Pediatrics and our laboratory) is given the task of identify and characterize both clinic as molecularly to such patients. We hope these studies contribute to a better diagnosis of the patients which can result in a timely and better oriented treatment. In addition, we hope to learn from these patients the molecular determinants that control various functions of the immune system in a natural environment.
Myosins comprise a family of motor proteins whose role in muscle contraction and motility in a large range of eukaryotic cells has been widely studied. Although these proteins have been characterized extensively and much is known about their function in different cellular compartments, little is known about these molecules in hematopoietic cells. Myosins expressed by cells from the immune response are involved in maintaining plasma membrane tension, moving and secreting vesicles, endo- and exocytotic processes, and promoting the adhesion and motility of cells. We interested in increase our current understanding of class I myosins in lymphocytes, with an emphasis on the emerging roles of these molecular motors in immune functions.
Using a dataset generated By Dr. Albert Zlotnik laboratory (UCI), a novel gene highly expressed in activated B lymphocytes was identified. Although, the gene has been already annotated, its expression in B cells has not been reported. The molecule identified is the newest member of a family of human tetraspanin, which contain 33 members. Tetraspanins have been implicated in cell adhesion, motility, invasion, cell signaling, etc.
They regulate its functions through the ability to interact with cell surface receptors, integrins, adaptors, signaling molecules and with each other, in tetraspanin-enriched microdomains, thereby organizing supramolecular complexes in cell membranes. In humans, tetraspanin 33 gene is deleted in some myeloid malignances and its deficiency could be related to some blood abnormalities such as anemia.
Recently, tetraspanin 33 has been related with notch signaling. Although it was reported that tetraspanin 33 was expressed predominantly in erythroblast, we observed an inducible expression in human peripheral B cells after stimulation with anti-CD40 and IL-4, suggesting a possible role on B cells. Thus, the aim of our present work is to characterize this new B cell antigen.
Dr. Héctor Romero Ramírez. Research assistant. (email@example.com)
Mr. Lenin Estudillo. Technician (firstname.lastname@example.org)
1. Zendejas Buitrón Victor Manuel
Universidad Nacional Autónoma de México
2. Guerra Infante Fernando Martín
Instituto Nacional de Peritanologia
3. Valdés Ramos Roxana
Universidad Autónoma del Estado de México
4. Moreno Lafont Martha
Escuela Nacional de Ciencias Biológicas
5. Garibay Escobar Adriana
Universidad de Sonora
6. Partída Sánchez Santiago
Nationwide Children's Hospital in Columbus, Ohio
7. Moyrón Quiróz Juan Enrique
Biolegend, San Diego CA.
8. Pedraza Sánchez Sigifredo.
Instituto Nacional de Ciencias Médicas y Nutrición
9. Moreno García Miguel Enrique
Boehringer Ingelheim Pharmaceuticals, Inc
10. Sumoza Toledo Adriana
11. Sandoval Montes Claudia
12. Alvarez Zavala Bertha Judith
13. Manjarrez Orduño Nataly
Feinstein Institute of Medical Research
14. López Herrera Gabriela
Instituto Nacional de Pediatría
15. Rodríguez Alba Juan Carlos
16. Berrón Ruíz Laura
17. Maravillas Montero José Luis
University of California (Irvine)
18. Vargas Hernández Alexander
Baylor College of Medicine
19. Vences Catalán Felipe
20. Mita Mendoza Neida Karen
National Institute of Allergy and Infectious Diseases, NIH