Changing the Lives of People With Primary Immunodeficiencies (PI) With Early Testing and Diagnosis

被引:22
作者
Condino-Neto, Antonio [1 ,2 ]
Espinosa-Rosales, Francisco J. [2 ,3 ]
机构
[1] Univ Sao Paulo, Inst Trop Med, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil
[2] Latin Amer Soc Primary Immunodeficiencies, Santiago, Chile
[3] Fdn Mexicana Ninas & Ninos Inmunodeficiencias, Mexico City, DF, Mexico
关键词
primary immunodeficiencies; diagnosis; treatment; morbidity; mortality; PRIMARY ANTIBODY DEFICIENCIES; DISEASES; WORLDWIDE;
D O I
10.3389/fimmu.2018.01439
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Throughout the world, primary immunodeficiencies (PI) are largely undiagnosed and underreported. Many patients do not receive an accurate and timely diagnosis, which is crucial for successful management and care of PI (1). It is estimated that between 70 and 90% of people living with a PI still remain undiagnosed worldwide (2). As for many other rare diseases, early testing and diagnosis are essential first steps in the care pathway toward timely and appropriate care and treatment, which are ultimately life changing and life enhancing for people living with PI. Under the theme "My future starts with early testing and diagnosis of PI," the eighth annual World Primary Immunodeficiency Week (World PI Week), celebrated from the 22nd to the 29th of April 2018, raised awareness of early recognition of PI, pursuing the goal of the campaign of ensuring an improved quality of life for people living with these diseases worldwide.
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页数:4
相关论文
共 20 条
[1]  
[Anonymous], 2014, RED FLAGS PRIM IMM I
[2]  
[Anonymous], 2015, DIAGN CLIN CAR GUID
[3]   Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought [J].
Bousfiha, Ahmed Aziz ;
Jeddane, Leila ;
Ailal, Fatima ;
Benhsaien, Ibtihal ;
Mahlaoui, Nizar ;
Casanova, Jean-Laurent ;
Abel, Laurent .
JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (01) :1-7
[4]   The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies [J].
Bousfiha, Aziz ;
Jeddane, Leila ;
Picard, Capucine ;
Ailal, Fatima ;
Gaspar, H. Bobby ;
Al-Herz, Waleed ;
Chatila, Talal ;
Crow, Yanick J. ;
Cunningham-Rundles, Charlotte ;
Etzioni, Amos ;
Luis Franco, Jose ;
Holland, Steven M. ;
Klein, Christoph ;
Morio, Tomohiro ;
Ochs, Hans D. ;
Oksenhendler, Eric ;
Puck, Jennifer ;
Tang, Mimi L. K. ;
Tangye, Stuart G. ;
Torgerson, Troy R. ;
Casanova, Jean-Laurent ;
Sullivan, Kathleen E. .
JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (01) :129-143
[5]   Primary immune deficiencies - principles of care [J].
Chapel, Helen ;
Prevot, Johan ;
Gaspar, Hubert Bobby ;
Espanol, Teresa ;
Bonilla, Francisco A. ;
Solis, Leire ;
Drabwell, Josina .
FRONTIERS IN IMMUNOLOGY, 2014, 5
[6]   Latin American challenges with the diagnosis and treatment of primary immunodeficiency diseases [J].
Costa-Carvalho, Beatriz ;
Gonzalez-Serrano, Maria ;
Espinosa-Padilla, Sara ;
Segundo, Gesmar .
EXPERT REVIEW OF CLINICAL IMMUNOLOGY, 2017, 13 (05) :483-489
[7]   Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice [J].
Costa-Carvalho, Beatriz Tavares ;
Grumach, Anete Sevciovic ;
Franco, Jose Luis ;
Javier Espinosa-Rosales, Francisco ;
Leiva, Lily E. ;
King, Alejandra ;
Porras, Oscar ;
Bezrodnik, Liliana ;
Oleastro, Mathias ;
Sorensen, Ricardo U. ;
Condino-Neto, Antonio .
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (01) :10-22
[8]   Identifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes [J].
Cunningham-Rundles, C ;
Sidi, P ;
Estrella, L ;
Doucette, J .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2004, 113 (04) :747-755
[9]   Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update [J].
de Vries, E. .
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2012, 167 (01) :108-119
[10]   Children and adults with primary antibody deficiencies gain quality of life by subcutaneous IgG self-infusions at home [J].
Gardulf, A ;
Nicolay, U ;
Asensio, O ;
Bernatowska, E ;
Böck, A ;
Costa-Carvalho, BT ;
Granert, C ;
Haag, S ;
Hernández, D ;
Kiessling, P ;
Kus, J ;
Matamoros, N ;
Niehues, T ;
Schmidt, S ;
Schulze, I ;
Borte, M .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2004, 114 (04) :936-942