Collaborating to Improve Quality of Life in Primary Immunodeficiencies: World PI Week, 2013

Sorensen, Ricardo U.; Bousfiha, Ahmed Aziz; Zeiger, John B

doi:10.1007/s10875-013-9921-2

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…Access to specialised clinical and laboratory resources differ among the countries, depending on the expertise and financial resources of each healthcare system [13]. We have made the case for a national clinical service for PIDs in New Zealand [14].…”

Section: Introductionmentioning

confidence: 99%

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Woon

Ameratunga

2016

Allergy Asthma Clin Immunol

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Background and purposeNew Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs).MethodsSince 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014.ResultsWe undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity.ConclusionsThorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

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Section: Introductionmentioning

confidence: 99%

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Woon

Ameratunga

2016

Allergy Asthma Clin Immunol

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“…In recent years, different regions of the African continent have also been involved in hosting international congresses and workshops on PID and collaborating with experts from various parts of the world. [32] In fact, the regions of North Africa and the Middle East have joined efforts by hosting 'The Middle East and North Africa Immunodeficiency' (MENAID) meetings; it is hoped that this will help to improve the quality of life of patients with PID. What both regions have in common is their high prevalence of consanguineous marriages (20 -60%) which results in a higher incidence of autosomal recessive PIDs.…”

Section: Resultsmentioning

confidence: 99%

“…What both regions have in common is their high prevalence of consanguineous marriages (20 -60%) which results in a higher incidence of autosomal recessive PIDs. [32,33] Another example of a medical society in Africa that is driving the dissemination of medical information and influencing public opinion is the 'Primary Immunodeficiency Diseases South Africa' working group, which is an active Working Group of the Allergy Society of South Africa (ALLSA) and hosts annual congresses and meetings (www.allergysa.org).…”

Section: Resultsmentioning

confidence: 99%

Primary immunodeficiency in Africa – a review

et al. 2019

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Primary immunodeficiency disease (PID) comprises a genetically heterogeneous group of disorders caused by defects in components of the immune system. PIDs affect different components of the innate and adaptive immune systems, including neutrophils, macrophages, dendritic cells, complement proteins, natural killer (NK) cells, and T-and B-lymphocytes. [1 2] This open-access article is distributed under Creative Commons licence CC-BY-NC 4.0.

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Alteraciones radiográficas en niños con inmunodeficiencia primaria

González-Uribe

Pietropaolo-Cienfuegos²,

Río-Navarro

et al. 2015

RAM

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Antecedentes: si bien se cuenta con información epidemiológica de las inmunodeficiencias primarias, la información disponible en México es escasa.Objetivos: dar información epidemiológica del retraso del diagnóstico de las inmunodeficiencias primarias y de su correlación con daño pulmonar crónico.Material y método: estudio retrospectivo, analítico, efectuado en pacientes de 0 a 18 años de edad con diagnóstico de inmunodeficiencias primarias durante 11 años en el Hospital Infantil de México Federico Gómez; las variables estudiadas fueron: edad al inicio de los síntomas, edad al diagnóstico, tiempo desde el inicio de los síntomas al diagnóstico, número de neumonías previas y estudios radiográficos con datos de daño pulmonar crónico.Resultados: se incluyeron 48 pacientes que cumplieron los criterios de inclusión; 33 tenían daño pulmonar al diagnóstico, el déficit de anticuerpos fue el grupo con mayor afectación. Al correlacionar la edad de inicio de los síntomas y la diferencia de tiempo del inicio de los síntomas al diagnóstico se obtuvo una fuerte correlación (p <0.001, Rho > 0.80). Se observó una correlación moderada entre la diferencia en tiempo vs número de neumonías (p=0.005, Rho=0.495) y la correlación entre número de neumonías y daño pulmonar mostró significación alta (p <0.001, Rho=0.704).Conclusión: se encontró una relación estrecha entre el tiempo transcurrido desde el inicio de los síntomas y el número de neumonías con el daño pulmonar, por lo que las neumonías de repetición (más de dos) deben hacer sospechar el diagnóstico de inmunodeficiencia primaria, como se recomienda en la bibliografía mundial.

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Collaborating to Improve Quality of Life in Primary Immunodeficiencies: World PI Week, 2013

Cited by 3 publications

References 15 publications

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Primary immunodeficiency in Africa – a review

Alteraciones radiográficas en niños con inmunodeficiencia primaria

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