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  1. Article ; Online: Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.

    Fuentes-Lara, Elma Isela / Arce-Estrada, Gabriel Emmanuel / Bojalil-Cabildo, Abner / Yamazaki-Nakashimada, Marco Antonio / Espinosa-Padilla, Sara Elva / Gamez-Gonzalez, Luisa Berenise / Ramirez-Uribe, Rosa María Nideshda / Saucedo-Ramirez, Omar Josue / Berron-Ruiz, Laura

    Allergologia et immunopathologia

    2023  Volume 51, Issue 6, Page(s) 89–96

    Abstract: Background: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking.: Methods: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and ...

    Abstract Background: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking.
    Methods: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed.
    Results: We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms.
    Conclusions: Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country.
    MeSH term(s) Humans ; CD18 Antigens/metabolism ; Mexico ; Leukocyte-Adhesion Deficiency Syndrome/diagnosis ; Leukocytes
    Chemical Substances CD18 Antigens
    Language English
    Publishing date 2023-11-01
    Publishing country Singapore
    Document type Journal Article
    ZDB-ID 193144-1
    ISSN 1578-1267 ; 0301-0546
    ISSN (online) 1578-1267
    ISSN 0301-0546
    DOI 10.15586/aei.v51i6.914
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility.

    Lopez-Rivera, Daniela Olivia / Castano-Jaramillo, Lina Maria / Yamazaki-Nakashimada, Marco Antonio / Ramirez Uribe, Rosa María Nideshda / Corcuera Delgado, Celso Tomás / Ignorosa-Arellano, Karen R / Medina-Torres, Edgar Alejandro / Berrón Ruiz, Laura / Espinosa-Padilla, Sara Elva / Scheffler-Mendoza, Selma C / López-Velázquez, Gabriel / Cruz-Munoz, Mario Ernesto / Lugo Reyes, Saul O

    Frontiers in immunology

    2022  Volume 13, Page(s) 959733

    Abstract: Introduction: The transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.: Objective: We aimed to investigate and characterize ... ...

    Abstract Introduction: The transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.
    Objective: We aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptibility and no known genetic etiology.
    Methods: After informed consent, we reviewed the electronic charts, extracted genomic DNA, performed whole-exome sequencing, filtered, and prioritized their variants, and confirmed through Sanger sequencing, family segregation analysis, and some functional assays, including lymphoproliferation, cytotoxicity, and characterization of natural killer cells.
    Results: We describe two cases of pediatric Mexican patients with rare heterozygous missense variants in
    Discussion: NFAT5 is an important regulator of the immune response. NFAT5 haploinsufficiency has been described as an immunodeficiency syndrome affecting both innate and adaptive immunity. EBV susceptibility might be another manifestation in the spectrum of this disease.
    MeSH term(s) Adolescent ; Child ; Epstein-Barr Virus Infections/complications ; Epstein-Barr Virus Infections/genetics ; Female ; Haploinsufficiency ; Herpesvirus 4, Human ; Humans ; Lymphohistiocytosis, Hemophagocytic ; Male ; Transcription Factors/genetics
    Chemical Substances NFAT5 protein, human ; Transcription Factors
    Language English
    Publishing date 2022-09-27
    Publishing country Switzerland
    Document type Case Reports ; Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2022.959733
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

    Vásquez-Echeverri, Estefanía / Yamazaki-Nakashimada, Marco Antonio / Venegas Montoya, Edna / Scheffler Mendoza, Selma Cecilia / Castano-Jaramillo, Lina Maria / Medina-Torres, Edgar Alejandro / González-Serrano, Maria Edith / Espinosa-Navarro, Melissa / Bustamante Ogando, Juan Carlos / González-Villarreal, María Guadalupe / Ortega Cisneros, Margarita / Valencia Mayoral, Pedro Francisco / Consuelo Sanchez, Alejandra / Varela-Fascinetto, Gustavo / Ramírez-Uribe, Rosa María Nideshda / Salazar Gálvez, Yuridia / Bonifaz Alonzo, Laura Cecilia / Fuentes-Pananá, Ezequiel Moisés / Gómez Hernández, Noemí /
    Rojas Maruri, César Mauricio / Casanova, Jean-Laurent / Espinosa-Padilla, Sara Elva / Staines Boone, Aidé Tamara / López-Velázquez, Gabriel / Boisson, Bertrand / Lugo Reyes, Saul Oswaldo

    The journal of allergy and clinical immunology. In practice

    2023  Volume 11, Issue 4, Page(s) 1261–1280.e8

    Abstract: Background: Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy. ...

    Abstract Background: Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy.
    Objective: We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families.
    Methods: We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency.
    Results: Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding. Eosinophilia was found in all; 84% had thrombocytopenia, 67% had abnormal-size platelets and anemia. Serum levels of IgG, IgA, and IgE were highly increased in most; IgM was normal or low. T cells were decreased in 67% of patients, whereas B and NK cells were increased in half of patients. Two of the four probands had compound heterozygous variants. One patient was successfully transplanted. We identified 28 other patients whose most prevalent features were eczema, recurrent infections, failure to thrive, bleeding, diarrhea, allergies, vasculitis, eosinophilia, platelet abnormalities, high IgE/IgA, low T cells, and high B cells.
    Conclusion: Actin-related protein 2/3 complex subunit 1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 was shared by three unrelated families and might be the result of a founder effect.
    MeSH term(s) Humans ; Actin-Related Protein 2 ; Actins ; Eczema ; Eosinophilia ; Epstein-Barr Virus Infections ; Failure to Thrive ; Herpesvirus 4, Human ; Immunoglobulin A ; Immunoglobulin E ; Reinfection ; Vasculitis ; Actin-Related Protein 3/metabolism
    Chemical Substances Actin-Related Protein 2 ; Actins ; Immunoglobulin A ; Immunoglobulin E (37341-29-0) ; Actin-Related Protein 3
    Language English
    Publishing date 2023-01-25
    Publishing country United States
    Document type Review ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2022.12.045
    Database MEDical Literature Analysis and Retrieval System OnLINE

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