scholarly journals EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System

2019 ◽  
Vol 10 ◽  
Author(s):  
Jacques J. M. van Dongen ◽  
Mirjam van der Burg ◽  
Tomas Kalina ◽  
Martin Perez-Andres ◽  
Ester Mejstrikova ◽  
...  
Keyword(s):  
Primary Immunodeficiencies ◽  
Diagnostic Screening ◽  
Lymphoid System

scholarly journals The EuroFlow PID Orientation Tube for Flow Cytometric Diagnostic Screening of Primary Immunodeficiencies of the Lymphoid System

2019 ◽  
Vol 10 ◽  
Author(s):  
Mirjam van der Burg ◽  
Tomas Kalina ◽  
Martin Perez-Andres ◽  
Marcela Vlkova ◽  
Eduardo Lopez-Granados ◽  
...  
Keyword(s):  
Primary Immunodeficiencies ◽  
Diagnostic Screening ◽  
Flow Cytometric ◽  
Lymphoid System

scholarly journals Flow Cytometry Immunophenotyping for Diagnostic Orientation and Classification of Pediatric Cancer Based on the EuroFlow Solid Tumor Orientation Tube (STOT)

Cancers ◽  
2021 ◽  
Vol 13 (19) ◽  
pp. 4945
Author(s):  
Cristiane de Sá de Sá Ferreira-Facio ◽  
Vitor Botafogo ◽  
Patrícia Mello Ferrão ◽  
Maria Clara Canellas ◽  
Cristiane B. Milito ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Solid Tumors ◽  
Solid Tumor ◽  
Pediatric Cancer ◽  
Diagnostic Procedures ◽  
Hematologic Malignancies ◽  
Multiparameter Flow Cytometry ◽  
Diagnostic Screening ◽  
Pediatric Solid Tumors

Early diagnosis of pediatric cancer is key for adequate patient management and improved outcome. Although multiparameter flow cytometry (MFC) has proven of great utility in the diagnosis and classification of hematologic malignancies, its application to non-hematopoietic pediatric tumors remains limited. Here we designed and prospectively validated a new single eight-color antibody combination—solid tumor orientation tube, STOT—for diagnostic screening of pediatric cancer by MFC. A total of 476 samples (139 tumor mass, 138 bone marrow, 86 lymph node, 58 peripheral blood, and 55 other body fluid samples) from 296 patients with diagnostic suspicion of pediatric cancer were analyzed by MFC vs. conventional diagnostic procedures. STOT was designed after several design–test–evaluate–redesign cycles based on a large panel of monoclonal antibody combinations tested on 301 samples. In its final version, STOT consists of a single 8-color/12-marker antibody combination (CD99-CD8/numyogenin/CD4-EpCAM/CD56/GD2/smCD3-CD19/cyCD3-CD271/CD45). Prospective validation of STOT in 149 samples showed concordant results with the patient WHO/ICCC-3 diagnosis in 138/149 cases (92.6%). These included: 63/63 (100%) reactive/disease-free samples, 43/44 (98%) malignant and 4/4 (100%) benign non-hematopoietic tumors together with 28/38 (74%) leukemia/lymphoma cases; the only exception was Hodgkin lymphoma that required additional markers to be stained. In addition, STOT allowed accurate discrimination among the four most common subtypes of malignant CD45− CD56++ non-hematopoietic solid tumors: 13/13 (GD2++ numyogenin− CD271−/+ nuMyoD1− CD99− EpCAM−) neuroblastoma samples, 5/5 (GD2− numyogenin++ CD271++ nuMyoD1++ CD99−/+ EpCAM−) rhabdomyosarcomas, 2/2 (GD2−/+ numyogenin− CD271+ nuMyoD1− CD99+ EpCAM−) Ewing sarcoma family of tumors, and 7/7 (GD2− numyogenin− CD271+ nuMyoD1− CD99− EpCAM+) Wilms tumors. In summary, here we designed and validated a new standardized antibody combination and MFC assay for diagnostic screening of pediatric solid tumors that might contribute to fast and accurate diagnostic orientation and classification of pediatric cancer in routine clinical practice.

On the classification of primary immunodeficiencies

1975 ◽  
Vol 86 (6) ◽  
pp. 988
Author(s):  
C. Pieraert ◽  
J.P. Farriaux ◽  
G. Fontaine
Keyword(s):  
Primary Immunodeficiencies

Classification of Primary Immunodeficiencies

1973 ◽  
Vol 288 (18) ◽  
pp. 966-967 ◽  
Author(s):  
Max D. Cooper ◽  
W. Page Faulk ◽  
H. Hugh Fudenberg ◽  
Robert A. Good ◽  
Walter Hitzig ◽  
...  
Keyword(s):  
Primary Immunodeficiencies

scholarly journals The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

2021 ◽  
Vol 41 (3) ◽  
pp. 666-679 ◽  
Author(s):  
Stuart G. Tangye ◽  
Waleed Al-Herz ◽  
Aziz Bousfiha ◽  
Charlotte Cunningham-Rundles ◽  
Jose Luis Franco ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Primary Immunodeficiencies ◽  
Expert Committee ◽  
International Union ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Gene Defects ◽  
Immune Defects

AbstractThe most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

scholarly journals The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

2020 ◽  
Vol 40 (7) ◽  
pp. 1026-1037
Author(s):  
Vassilios Lougaris ◽  
Andrea Pession ◽  
Manuela Baronio ◽  
Annarosa Soresina ◽  
Roberto Rondelli ◽  
...  
Keyword(s):  
Natural History ◽  
Regional Distribution ◽  
Primary Immunodeficiencies ◽  
Comprehensive Description ◽  
Replacement Treatment ◽  
History Of ◽  
Male Patients ◽  
Immunoglobulin Replacement ◽  
Combined Immunodeficiencies

Abstract Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.

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