全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

Approach to Primary Immunodeficiencies for the Non-Immunologist Physicians

DOI: 10.4236/oalib.1105419, PP. 1-15

Subject Areas: Allergy & Clinical Immunology

Keywords: Primary Immunodeficiencies, Immunodeficiency, Approach, Lymphopenia

Full-Text   Cite this paper   Add to My Lib

Abstract

Introduction: Primary immunodeficiencies are a spectrum of diseases that encompasses alteration of the innate and adaptive immune response. Isolated lymphocytopenia may be a manifestation of primary immunodeficiency, which is rarely considered as a diagnostic option by non-immunological physicians. Objectives: To conduct a brief review of the primary immunodeficiencies that are most frequently associated with lymphocytopenia in order to provide a resource that will help non-immunological clinicians to recognize and appropriately refer to these cases. Materials and Methods: Review of the literature with scientific articles indexed in English and Spanish. We consulted Pubmed database with the keywords: primary immunodeficiencies and severe combined immu-nodeficiencies. The limit of time was 5 years and only review papers. Re-sults: The search in the database results in 68 papers and we analyzed 35 articles because the objective of the review was Severe Combined Immu-nodeficiencies. Discussion: Persistent lymphopenia (usually <2500 xmm3) detected in blood cell cytometry that accompanies severe, recurrent infec-tions, autoimmune manifestations, atopy and cancer may suggest severe combined immunodeficiency. Causes of secondary immunodeficiency such as HIV should be ruled out. Conclusions: Persistent lymphopenia can be associated with severe combined immunodeficiency. The study should be extended in these cases by a specialist or refer the patient to a referral center for a complete evaluation.

Cite this paper

Alberto, G. C. , Emmanuel, A. , Alberto, Y. M. , Daniel, A. C. , Fernando, L. , Eugenia, V. M. , Elva, E. S. , Edith, G. M. and Isabel, C. M. (2019). Approach to Primary Immunodeficiencies for the Non-Immunologist Physicians. Open Access Library Journal, 6, e5419. doi: http://dx.doi.org/10.4236/oalib.1105419.

References

[1]  Ochs, H., Smith, E. and Puck, J. (2014) Primary Immunodeficiency Disease, a Mo-lecular a Genetic Approach. 3th Edition, Oxford University Press, Oxford.
[2]  Fischer, A. (2015) Recent Advances in Understanding the Pathophysiology of Primary T Cell Immunodeficiencies. Trends in Molecular Medicine, 21, 408-416.
https://doi.org/10.1016/j.molmed.2015.04.002
[3]  Raje, N. and Dinakar, C. (2015) Overview of Immunodeficiency Disorders. Immunology and Allergy Clinics of North America, 35, 599-623.
https://doi.org/10.1016/j.iac.2015.07.001
[4]  García-Cruz, M.L., Camacho, R., Ortega-Martell, J.A., Berrón-Pérez, R., Espinosa-Rosales, F., Hernán-dez-Bautista, V., et al. (2002) Registry of Primary Immunodeficiencies in Mexican Pa-tients in a Third-Level Institution: 30-Year Experience. Allergy, Asthma and Pediatric Immunology, 11, 48-66.
[5]  Picard, C., Gaspar, H.B., Al-Herz, W., Bousfiha, A., Jean-Leurent, C. and Chatila, T., et al. (2018) International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Journal of Clinical Immunology, 38, 96-128. https://doi.org/10.1007/s10875-017-0464-9
[6]  Picard, C., Al-Herz, W., Bousfiha, A., Casanova, J.L., Chatila, T., Conley, M.E., et al. (2015) Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. Journal of Clinical Immunology, 35, 696-726.
https://doi.org/10.1007/s10875-015-0201-1
[7]  Bousfiha, A., Jeddane, L., Picard, C., Ailal, F., Bobby Gaspar, H., Al-Herz, W., et al. (2018) The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. Journal of Clinical Immunology, 38, 129-143.
https://doi.org/10.1007/s10875-017-0465-8
[8]  Latin American Society of Immunodeficiencies (2019) Statistics-Registration of IDPs. http://www.lasid.org
[9]  Hernández-Blas, M., Orozco-Martínez, S., Contreras-Verduzco, A., Medina-Torres, E. and Espinosa-Padilla, S. (2014) When to Suspect Severe Combined Immunodeficiency in Children? Alergia, Asma e Inmunología Pediátricas. México, 23, 20-26.
[10]  Lehman, H., Hernández-Trujillo, V. and Ballow, M. (2015) Diagnosings Primary Immunodeficiency: A Practical Approach for the Non-Immunologist. Current Medical Research and Opinion, 31, 697-706.
https://doi.org/10.1185/03007995.2014.1001063
[11]  Shearer, W., Dunn, E., Notarangelo, L., Dvorak, C., Puck, J., Logan, B., et al. (2014) Establishing Diagnostic Criteria for SCID, Leaky SCID, Ommen Syndrome: The primary Immune Deficiency Treatment Consortium Experience. The Journal of Allergy and Clinical Immunology, 133, 1092-1098.
https://doi.org/10.1016/j.jaci.2013.09.044
[12]  Marinovic, M.A. (2012) Immunodeficiencies and Their Relationship with Autoinmune Diseases. Revista Médica Clínica Las Condes, 23, 484-491.
https://doi.org/10.1016/S0716-8640(12)70339-5
[13]  Olbrich, P., de Felipe B., Delgado-Pecellin, C., Rodero, R., Rojas, P., Aguayo, J., Marquez, J., Casanovas, J., Sánchez, B., Lucena, J.M., Ybot-Gonzalez, P., Borte, S. and Neth, O. (2014) A First Pilot Study on the Neonatal Screening of Primary Immunodeficiencies in Spain: TRECS and KRECS Identify Severe T- and B-Cell Lymphopenia. Anales de Pediatría, 81, 310-317.
https://doi.org/10.1016/j.anpedi.2014.08.002
[14]  Gaspar, H., Hammastr?m, L., Nahlaoui, N., Borte, M. and Borte, S. (2014) The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID). Journal of Clinical Immunology, 34, 393-397.
https://doi.org/10.1007/s10875-014-0029-0
[15]  Biggs, C.M., Haddad, E., Is-sekuts, T.B., Roifman C.M. and Turvey, S.E. (2017) Newborn Screening for Severe Combined Immunodeficiencies: A Primer for Clinicians. Canadian Medical Association Journal, 189, E1551-E1557.
https://doi.org/10.1503/cmaj.170561
[16]  Pérez-Aguilar, M.C., Goncalves, L. and Bonfante-Cabarcas, R. (2012) Adenosin Deaminase in Severe Combined Immu-nodeficiency Syndrome. Investigación Clínica, 53, 315-324.
[17]  Comans-Bitter, W.M., de Groot, R., van den Beemd, R., Neijens, H.J., Hop, W.C., Groeneveld, K., Hooijkaas, H., et al. (1997) Immunophenotyping of Blood Lymphocytes in Childhood. Reference Values for Lymphocyte Subpopulations. The Journal of Pediatrics, 130, 388-393. https://doi.org/10.1016/S0022-3476(97)70200-2
[18]  Jollif, C.R., Cost, K.M., Stivrins, P.C., Grossman, P.P., Nolte, C.R., Franco, S.M., et al. (1982) Reference Intervals from Serum IgG, IgA, IgM, C3, C4 as Determined by Rate Nephelometry. Clinical Chemistry, 28, 126-128.
[19]  Kwan, A. and Puck, J.M. (2015) History and Current Status of Newborn Screening for Severe Combined Immunodeficiency. Seminars in Perinatology, 39, 194-205.
https://doi.org/10.1053/j.semperi.2015.03.004
[20]  Diamond, C.E., Sanchez, M.J. and LaBelle, J.L. (2015) Diagnostic Criteria and Evaluation of Severe Combined Immunodeficiency in the Neonate. Pediatric Annals, 44, e181-e187. https://doi.org/10.3928/00904481-20150710-12
[21]  Madkaikar, M., Aluri, J. and Gupta, S. (2016) Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India. The Indian Journal of Pediatrics, 83, 455-462.
https://doi.org/10.1007/s12098-016-2059-5
[22]  Cirillo, E., Giardino, G., Gallo, V., D’Assante, R., Grasso, F., Romano, R., et al. (2015) Severe Combined Immunodeficiency—An Update. Annals of the New York Academy of Sciences, 1356, 90-106. https://doi.org/10.1111/nyas.12849
[23]  Buelow, B.J., Verbsky, J.W. and Routes, J.M. (2016) Newborn Screening for SCID: Lessons Learned. Expert Review of Hematology, 9, 579-584.
https://doi.org/10.1080/17474086.2016.1180243
[24]  Berrón-Pérez, R., Espinosa-Rosales, F.J., Márquez-Aguirre, M.P., Sainos, A., Ivory, J., Selva-Pallares, J.E., et al. (2005) Expert Consensus on the Current Therapeutic Use of Intravenous Immunoglobulin. Revista Alergia México, 52, 42-50.
[25]  Galicchio, M., Ornani, A., Bezrodnik, L., Di Giovanni, D., Gomez-Raccio, A., Paz, R., et al. (2010) Management Guidelines: Vaccines in Patients with Primary Immunodeficiencies. Archivos Argentinos de Pediatria, 108, 454-464.
[26]  Sobh, A. and Bonilla, F.A. (2016) Vaccination in Primary Immunodeficiency Disorders. The Journal of Allergy and Clinical Immunology: In Practice, 4, 1066-1075.
https://doi.org/10.1016/j.jaip.2016.09.012
[27]  Freeman, A.F. (2018) Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies be-yond Severe Combined Immunodeficiency. Journal of the Pediatric Infectious Diseases Society, 7, S79-S82. https://doi.org/10.1093/jpids/piy114
[28]  Heimall, J., Puck, J., Buckley, R., Fleisher, T.A., Gennery, A.R., Neven, B., et al. (2017) Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Biology of Blood and Marrow Transplantation, 23, 379-387.
https://doi.org/10.1016/j.bbmt.2016.12.619
[29]  Touzot, F., Hacein-Bey-Abina, S., Fischer, A. and Cavazzana, M. (2014) Gene Therapy for Inherited Immunodeficiency. Expert Opinion on Biological Therapy, 14, 789-798. https://doi.org/10.1517/14712598.2014.895811
[30]  Ghosh, S.G. and Gaspar, H.B. (2017) Gene Therapy Approaches to Immunodeficiency. Hematology/Oncology Clinics of North America, 31, 823-834.
https://doi.org/10.1016/j.hoc.2017.05.003
[31]  Fischer, A., Hacein-Bey Abina, S., Touzot, F. and Cavazzana, M. (2015) Gene Therapy for Primary Immunodeficiencies. Clinical Genetics, 88, 507-515.
https://doi.org/10.1111/cge.12576
[32]  Sauer, A.V., Di Lorenzo, B., Carriglio, N. and Aiuti, A. (2014) Progress in Gene Therapy for Primary Immunodeficiencies Using Lentiviral Vectors. Current Opinion in Allergy and Clinical Immunology, 14, 527-534.
https://doi.org/10.1097/ACI.0000000000000114
[33]  Kohn, D.B. and Kuo, C.Y. (2017) New Frontiers in the Therapy of Primary Immunodeficiency: From Gene Addition to Gene Editing. The Journal of Allergy and Clinical Immunology, 139, 726-732. https://doi.org/10.1016/j.jaci.2017.01.007

Full-Text


comments powered by Disqus

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133

WeChat 1538708413