Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

Autor: Laia Alsina, José Carlos Rodríguez-Gallego, Pere Soler-Palacín, Weng Tarng Cham, Enrique Gómez de la Fuente, Rebeca Rodríguez-Pena, Jordi Yagüe, Luis Ignacio Gonzalez-Granado, José M. Morales, Osvaldo M. Mutchinick, Roger Colobran, Luz Yadira Bravo Gallego, Angélica Balderrama-Rodríguez, Alejandro Souto, Pablo Mesa-del-Castillo, María Bravo García-Morato, Kieron S. Leslie, Consuelo Modesto, Juan I. Aróstegui, Naouel Guirat Dhouib, María Teresa Martínez-Saavedra, Carine Wouters, Catalina Mosquera, Marketa Bloomfield, María Teresa Bosque, Maria Teresa Terreri, Daniel Clemente, Jeronima Cañellas, Natalia Palmou, Eva González-Roca, Josep M. Campistol, Lívia Almeida Dutra, Cecilia Gonzalez-Santesteban, Eduardo Ramos, Eduardo López-Granados, Ferran Casals, Norberto Ortego-Centeno, Jose Luis Fuster, Luis M. Allende, Jaime de Inocencio, Mohamed Bejaoui, Laura Martínez-Martínez, Clara Franco-Jarava, Anna Mensa-Vilaro, Santiago Jimenez-Treviño, Rebeca Pérez de Diego, Oscar de la Calle-Martin, Agustin Remesal, Tatiana González, Natalia Martínez-Pomar

Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

BACKGROUND: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations. Mosaicism has been rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5148ee8b2b5d7f2956f8f0da6cb396e7
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15122

Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients

Autor: Monia Khemiri, Mohamed Bejaoui, Khaoula Ben-Farhat, J. Bouguila, Naouel Guirat-Dhouib, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Lamia Sfaihi Ben-Mansour, Beya Larguèche, Imen Ben-Mustapha, Fethi Mellouli, Jalel Chemli, Emna Dhemaied

Publikováno v: Journal of Clinical Immunology. 33:865-870

Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::217e08ca055c334d6d99470721f83a1a
https://doi.org/10.1007/s10875-013-9863-8

Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome)

Autor: Mohamed Bejaoui, Naouel Guirat-Dhouib, Imène Ben Mustapha, Bassima Fezaa, Monia Ouederni, Ridha Kouki, Fethi Mellouli, Nadia El Fekih, Slama Hmida, Mohamed-Ridha Barbouche, Yemen Baccar, Sameh Chouaibi

Publikováno v: Clinical and Molecular Allergy, Vol 10, Iss 1, p 6 (2012)
Clinical and Molecular Allergy : CMA

Background Major histocompatibility complex class II deficiency, also referred to as bare lymphocyte syndrome is a rare primary Immunodeficiency disorder characterized by a profondly deficient human leukocyte antigen class II expression and a lack of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2767355f61e0c46390e17f3b618d875
http://www.clinicalmolecularallergy.com/content/10/1/6

SFP PC-68 – Insuffisance surrénale et β thalassémie majeure

Autor: Monia Ouederni, S. Belhadj Hmida, Mohamed Bejaoui, I. Jridi, Fethi Mellouli, Naouel Guirat-Dhouib, M. Ben Khaled, F. Laabidi

Publikováno v: Archives de Pédiatrie. 21:958

Objectif Evaluer la prevalence de l’insuffisance surrenale a partir d’une serie d’adolescents β thalassemiques majeurs (β TM) polytransfuses. Methodes Il s’agit d’une serie enrolant 14 patients suivis β TM polytransfuses, d’âge moyen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4a5c99c66ea7dde1ab073d4720991f38
https://doi.org/10.1016/s0929-693x(14)72218-3