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1. The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.

Author

Chiriaco M, Brigida I, Ariganello P, Di Cesare S, Di Matteo G, Taus F, Cittaro D, Lazarevic D, Scarselli A, Santilli V, Attardi E, Stupka E, Giannelli S, Fraziano M, Finocchi A, Rossi P, Aiuti A, Palma P, and Cancrini C

Subjects
Adenine analogs & derivatives, Adenine pharmacology, Cell Differentiation genetics, Class I Phosphatidylinositol 3-Kinases genetics, Class I Phosphatidylinositol 3-Kinases immunology, Humans, Immunologic Deficiency Syndromes genetics, In Vitro Techniques, Inflammation, Lymphopenia genetics, Lymphopenia immunology, Macrophages drug effects, Male, Mycobacterium bovis immunology, Primary Immunodeficiency Diseases, Proto-Oncogene Proteins c-akt immunology, Quinazolines pharmacology, Signal Transduction, TOR Serine-Threonine Kinases immunology, Young Adult, B-Lymphocytes immunology, Cell Differentiation immunology, Dendritic Cells immunology, Immunologic Deficiency Syndromes immunology, Macrophages immunology
Abstract

Activated PI3-kinase delta syndrome (APDS) was recently reported as a novel primary immunodeficiency caused by heterozygous gain-of-function mutations in PIK3CD gene. Here we describe immunological studies in a 19year old APDS patient for whom genetic diagnosis was discovered by Whole Exome Sequencing (WES) analysis. In addition to the progressive lymphopenia and defective antibody production we showed that the ability of the patient's B cells to differentiate in vitro is severely reduced. An in depth analysis of the myeloid compartment showed an increased expression of CD83 activation marker on monocytes and mono-derived DC cells. Moreover, monocytes-derived macrophages (MDMs) failed to solve the Mycobacterium bovis bacillus Calmette Guèrin (BCG) infection in vitro. Selective p110δ inhibitor IC87114 restored the MDM capacity to kill BCG in vitro. Our data show that the constitutive activation of Akt-mTOR pathway induces important alterations also in the myeloid compartment providing new insights in order to improve the therapeutic approach in these patients., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Published
2017
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2. The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

Author

Silvia Di Cesare, Andrea Finocchi, Francesco Taus, Paolo Palma, Maurizio Fraziano, Elia Stupka, Paolo Rossi, Alessandro Aiuti, Immacolata Brigida, Caterina Cancrini, Stefania Giannelli, Dejan Lazarevic, Enrico Attardi, Maria Chiriaco, Gigliola Di Matteo, Paola Ariganello, Veronica Santilli, Davide Cittaro, Alessia Scarselli, Chiriaco, M., Brigida, I., Ariganello, P., Di Cesare, S., Di MAtteo, G., Taus, F., Cittaro, D., Lazarevic, D., Scarselli, A., Santilli, V., Attardi, E., Stupka, E., Giannelli, S., Fraziano, M., Finocchi, A., Rossi, P., Aiuti, Alessandro, Palma, P., and Cancrini, C.

Subjects
Male, 0301 basic medicine, Myeloid, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, Cellular differentiation, Immunology, APDS, Mycobacterium bovis, Myeloid cells, PI3KCD, Inflammation, In Vitro Techniques, Peripheral blood mononuclear cell, Adenine, B-Lymphocytes, Cell Differentiation, Dendritic Cells, Humans, Immunologic Deficiency Syndromes, Lymphopenia, Macrophages, Proto-Oncogene Proteins c-akt, Quinazolines, Signal Transduction, TOR Serine-Threonine Kinases, Young Adult, 03 medical and health sciences, Mycobacterium bovi, medicine, Immunology and Allergy, Settore MED/38 - Pediatria Generale e Specialistica, biology, Settore BIO/19, biology.organism_classification, medicine.disease, Myeloid cell, In vitro, 030104 developmental biology, medicine.anatomical_structure, P110δ, Primary immunodeficiency, medicine.symptom
Abstract

Activated PI3-kinase delta syndrome (APDS) was recently reported as a novel primary immunodeficiency caused by heterozygous gain-of-function mutations in PIK3CD gene. Here we describe immunological studies in a 19year old APDS patient for whom genetic diagnosis was discovered by Whole Exome Sequencing (WES) analysis. In addition to the progressive lymphopenia and defective antibody production we showed that the ability of the patient's B cells to differentiate in vitro is severely reduced. An in depth analysis of the myeloid compartment showed an increased expression of CD83 activation marker on monocytes and mono-derived DC cells. Moreover, monocytes-derived macrophages (MDMs) failed to solve the Mycobacterium bovis bacillus Calmette Guèrin (BCG) infection in vitro. Selective p110δ inhibitor IC87114 restored the MDM capacity to kill BCG in vitro. Our data show that the constitutive activation of Akt-mTOR pathway induces important alterations also in the myeloid compartment providing new insights in order to improve the therapeutic approach in these patients.

Published
2017
Full Text
View/download PDF

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