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Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study
ZA. El-Sayed, DH. El-Ghoneimy, JA. Ortega-Martell, N. Radwan, JC. Aldave, W. Al-Herz, MA. Al-Nesf, A. Condino-Neto, T. Cole, B. Eley, NHH. Erwa, S. Espinosa-Padilla, E. Faria, NA. Rosario Filho, R. Fuleihan, N. Galal, E. Garabedian, M....
Language English Country United States
Document type Journal Article
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- Journal Article MeSH
Background: Allergies have long been observed in Inborn Errors of Immunity (IEI) and might even be the first presentation resulting in delayed diagnosis or misdiagnosis in some cases. However, data on the prevalence of allergic diseases among IEI patients are limited and contradictory. Objective: To provide a worldwide view of allergic diseases, across a broad spectrum of IEI, and their impact on the timely diagnosis of IEI. Methods: This is a worldwide study, conceived by the World Allergy Organization (WAO) Inborn Errors of Immunity Committee. A questionnaire was developed and pilot-tested and was sent via email to collect data from 61 immunology centers known to treat pediatric and/or adult IEI patients in 41 countries. In addition, a query was submitted to The United States Immunodeficiency Network (USIDNET) at its website. Results: Thirty centers in 23 countries caring for a total 8450 IEI patients responded. The USIDNET dataset included 2332 patients. Data from responders showed that a median (IQR) of 16.3% (10-28.8%) of patients experienced allergic diseases during the course of their IEI as follows: 3.6% (1.3-11.3%) had bronchial asthma, 3.6% (1.9-9.1%) atopic dermatitis, 3.0% (1.0-7.8%) allergic rhinitis, and 1.3% (0.5-3.3%) food allergy. As per the USIDNET data, the frequency of allergy among IEI patients was 68.8% (bronchial asthma in 46.9%). The percentage of IEI patients who presented initially with allergic disorders was 8% (5-25%) and diagnosis delay was reported in 7.5% (0.9-20.6%). Predominantly antibody deficiencies had the highest frequency of allergic disease followed by combined immunodeficiency with a frequency of 40.3% (19.2-62.5%) and 20.0% (10-32%) respectively. As per the data of centers, anaphylaxis occurred in 25/8450 patients (0.3%) whereas per USIDNET dataset, it occurred in 249/2332 (10.6%); drugs and food allergy were the main causes in both datasets. Conclusions: This multinational study brings to focus the relation between allergic diseases and IEI. Major allergies do occur in IEI patients but were less frequent than the general population. Initial presentation with allergy could adversely affect the timely diagnosis of IEI. There is a need for policies to raise awareness and educate primary care and other referring specialties on the association of allergic diseases with IEI. This study provides a network among centers for future prospective studies in the field.
Allergy and Clinical Immunology Hospital Nacional Edgardo Rebagliati Martins Peru
Clínica de Alergia Pediátrica Mexico
Department of Allergy and Immunology Royal Children's Hospital Australia
Department of Immunology Institute of Biomedical Sciences University of Sao Paulo Sao Paulo Brazil
Department of Immunology Pasteur Institute of Algeria Algeria
Department of Internal Medicine and Clinical Immunology Hotel Dieu de France Hospital Beirut Lebanon
Department of Molecular Medicine PID Reference Centre Sapienza University of Rome Italy
Department of Pediatrics and Child Health Aga Khan University Hospital Karachi Pakistan
Department of Pediatrics Children's Hospital of Philadelphia USA
Department of Pediatrics Division of Immunology Cairo University Egypt
Department of Pediatrics Federal University of Parana Brazil
Department of Pediatrics Pulmonary Division Allergy and Immunology Section Qatar
Department of Pediatrics Tokyo Medical and Dental University Japan
Department of Pulmonology Division of Allergy University Hospital of Montpellier Montpellier France
Division of Pediatric Allergy University of Cape Town South Africa
Gaafer Ibn Ouf Specialist Paediatric Hospital Sudan
Hospital Tunku Azizah Women and Children Hospital Kuala Lumpur Malaysia
Immunoallergy Department Coimbra Hospital and University Centre Portugal
Instituto Nacional de Pediatría Immunodeficiencies Laboratory Mexico
National Human Genome Research Institute National Institute of Health USA
Network of Immunity in Infection Malignancy and Autoimmunity Tehran Iran
Pediatric Allergy Immunology and Rheumatology Columbia University Medical Center New York USA
Translational Medical Sciences Pediatric Immunology Italy
WHO Collaborating Centre on Classification Scientific Support Montpellier France
References provided by Crossref.org
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- $a Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study / $c ZA. El-Sayed, DH. El-Ghoneimy, JA. Ortega-Martell, N. Radwan, JC. Aldave, W. Al-Herz, MA. Al-Nesf, A. Condino-Neto, T. Cole, B. Eley, NHH. Erwa, S. Espinosa-Padilla, E. Faria, NA. Rosario Filho, R. Fuleihan, N. Galal, E. Garabedian, M. Hintermeyer, K. Imai, C. Irani, E. Kamal, N. Kechout, A. Klocperk, M. Levin, T. Milota, M. Ouederni, R. Paganelli, C. Pignata, FN. Qamar, I. Quinti, S. Qureshi, N. Radhakrishnan, N. Rezaei, J. Routes, S. Singh, S. Siniah, I. Abdel-Hakam Taha, LK. Tanno, B. Van Dort, A. Volokha, K. Sullivan
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- $a Background: Allergies have long been observed in Inborn Errors of Immunity (IEI) and might even be the first presentation resulting in delayed diagnosis or misdiagnosis in some cases. However, data on the prevalence of allergic diseases among IEI patients are limited and contradictory. Objective: To provide a worldwide view of allergic diseases, across a broad spectrum of IEI, and their impact on the timely diagnosis of IEI. Methods: This is a worldwide study, conceived by the World Allergy Organization (WAO) Inborn Errors of Immunity Committee. A questionnaire was developed and pilot-tested and was sent via email to collect data from 61 immunology centers known to treat pediatric and/or adult IEI patients in 41 countries. In addition, a query was submitted to The United States Immunodeficiency Network (USIDNET) at its website. Results: Thirty centers in 23 countries caring for a total 8450 IEI patients responded. The USIDNET dataset included 2332 patients. Data from responders showed that a median (IQR) of 16.3% (10-28.8%) of patients experienced allergic diseases during the course of their IEI as follows: 3.6% (1.3-11.3%) had bronchial asthma, 3.6% (1.9-9.1%) atopic dermatitis, 3.0% (1.0-7.8%) allergic rhinitis, and 1.3% (0.5-3.3%) food allergy. As per the USIDNET data, the frequency of allergy among IEI patients was 68.8% (bronchial asthma in 46.9%). The percentage of IEI patients who presented initially with allergic disorders was 8% (5-25%) and diagnosis delay was reported in 7.5% (0.9-20.6%). Predominantly antibody deficiencies had the highest frequency of allergic disease followed by combined immunodeficiency with a frequency of 40.3% (19.2-62.5%) and 20.0% (10-32%) respectively. As per the data of centers, anaphylaxis occurred in 25/8450 patients (0.3%) whereas per USIDNET dataset, it occurred in 249/2332 (10.6%); drugs and food allergy were the main causes in both datasets. Conclusions: This multinational study brings to focus the relation between allergic diseases and IEI. Major allergies do occur in IEI patients but were less frequent than the general population. Initial presentation with allergy could adversely affect the timely diagnosis of IEI. There is a need for policies to raise awareness and educate primary care and other referring specialties on the association of allergic diseases with IEI. This study provides a network among centers for future prospective studies in the field.
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