Model for clinical history in primary immunodeficient patients, Pinar del Rio

Authors

Keywords:

MEDICAL RECORDS, IMMUNE SYSTEM, PRIMARY IMMUNODEFICIENCY, ERRORS, IMMUNE SYSTEM DISEASES.

Abstract

Introduction: inborn errors of immunity or primary immunodeficiencies are characterized by increased susceptibility to infections due to defects in the development or functioning of the immune system. Diagnosis should include clinical evaluation, immunological analysis, genetic evaluation, routine follow-up, diagnostic re-discussion and clinical management. There is no clear guidance on this issue under resource-limited conditions.

Objective: to design a model for clinical history in patients with suspected inborn error of immunity.

Methods: a review of symptoms to be considered in the clinical history of patients with inborn errors of immunity was carried out. Working groups were formed among members of the provincial group of Immunology in Pinar del Rio province, with the subsequent discussion of the aspects to be included in the history.

Results: five tables were designed to collect: informed consent; personal pathological antecedents related to 148 clinical manifestations in correspondence with allergic, infectious, inflammatory, autoimmune, non-immune, neoplastic and other phenotypes. Family pathologic history and family tree; physical examination and summary of clinical phenotypes, diagnostic discussion and classification of the patient are presented.

Conclusions: the interviews, physical examination, personal and family pathologic history, as well as the adequate design of the clinical history, are considered essential elements for the approach to the diagnosis of inborn errors of immunity. A patient registry should be available to enable early diagnosis and timely treatment of primary immunodeficiency.

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Author Biographies

Odalys Orraca-Castillo, Universidad de Ciencias Médicas de Pinar del Río. Pinar del Río, Cuba.

Dr.C. Médicas. Especialista de primer y segundo grado en Inmunología. Máster en Genética Médica y en Urgencias Médicas. Profesora Titular. Investigadora Auxiliar.

Luis Alexis Peláez-Yáñez, Hospital Pediátrico Provincial Docente “Pepe Portilla”. Pinar del Río, Cuba.

Especialista de primer grado en Inmunología. Máster en Urgencias Médicas. Profesor asistente.

Jessica Ocalia Solana-Rodríguez, Hospital Pediátrico Provincial Docente “Pepe Portilla”. Pinar del Río, Cuba

Especialista de primer grado en Inmunología.

Liana Valdés-Lanza, Hospital Pediátrico Provincial Docente “Pepe Portilla”. Pinar del Río, Cuba

Especialista de primer grado en Inmunología

Carlos Alfredo Miló-Valdés, Hospital Pediátrico Provincial Docente “Pepe Portilla”. Pinar del Río, Cuba

Médico Residente de Inmunología.

Alberto Lugo-Hernández, . Hospital Pediátrico Provincial Docente “Pepe Portilla”. Pinar del Río, Cuba.

Médico Residente de Inmunología

Daniel Barreras-Sixto, Hospital Pediátrico Provincial Docente “Pepe Portilla”. Pinar del Río, Cuba

Médico Residente de Inmunología.

References

1. Notarangelo LD, Bacchetta R, Casanova JL, Su HC, et al. Human Inborn Errors of Immunity : an Expanding Universe. Sci Immunol [Internet]. 2020[citado 12/02/2020]; 5(49). Disponible en: https://doi.org/10.1126/sciimmunol.abb1662

2. Solé D. Primary immunodeficiencies : a diagnostic challenge ? J Pediatr [Internet]. 2021[citado 12/02/2020]; 97(supl.1): S1-2. Disponible en: https://doi.org/10.1016/j.jped.2020.12.002

3. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol[Internet]. 2020[citado 12/02/2020]; 40(1): 24-64. https://pubmed.ncbi.nlm.nih.gov/31953710/

4. Wu J, Zhong W, Yin Y, Zhang H. Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center. BMC Pediatr [Internet]. 2019[citado 12/02/2020];19(1): 1-7. Disponible en: https://doi.org/10.1186/s12887-019-1729-7

5. Rodrigues G, Segundo S. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies. J Pediatr [Internet]. 2021[citado 12/02/2020]; 97: S3-S9. Disponible en: https://doi.org/10.1016/j.jped.2020.09.007

6. Almarzooqi F, Souid A, Vijayan R, Al- S. Novel genetic variants of inborn errors of immunity. PLOS ONE[Internet]. 2021[citado 12/02/2020]; 1-11. Disponible en: http://dx.doi.org/10.1371/journal.pone.0245888

7. Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol [Internet]. 2020[citado 12/02/2020]; 40(1): 66-81. Disponible en: https://link.springer.com/article/10.1007%2Fs10875-020-00758-x

8. Chinn IK, Orange JS. Immunodeficiency Disorders. Pediatr Rev [Internet]. 2019[citado 12/02/2020]; 40(5): 229-42. Disponible en: http://pedsinreview.aappublications.org/content/40/5/229

9. Yamashita M, Inoue K, Okano T, Morio T. Inborn errors of immunity — recent advances in research on the pathogenesis. Inflamm Regen [Internet]. 2021[citado 12/02/2020]; 41(9). Disponible en: https://doi.org/10.1186/s41232-021-00159-6

10. Rich R, Fleisher T, Shearer W, Schroeder H, Frew A, Weyand C. Clinical Immunology: Principles and Practice [Internet]; 2018[citado 12/02/2020]. Disponible en: https://www.elsevier.com/books/clinical-immunology/rich/978-0-7020-6896-6

11. Grumach AS, Goudouris ES. Inborn Errors of Immunity : how to diagnose them ? J Pediatr [Internet]. 2021[citado 12/02/2020]; 97(supl. 1): S84-S90. Disponible en: https://doi.org/10.1016/j.jped.2020.11.007

12. Bucciol G, Meyts I. Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. F1000Research [Internet]. 2020[citado 12/02/2020]; 9:194. Disponible en: https://doi.org/10.12688/f1000research.21553.1

13. Walter JE, Ayala IA, Milojevic D. Autoimmunity as a continuum in primary immunodeficiency. Curr Opin Pediatr [Internet]. 2019[citado 12/02/2020]; 31(6): 851-62. Disponible en: https://doi.org/10.1097/MOP.0000000000000833

14. Ghaini M, Jamee M, Mahdaviani SA, Mesdaghi M, Eskandarzadeh S, Rae W, et al. The Prevalence of Atopic Manifestations in 313 Iranian Patients with Inborn Errors of Immunity. Int Arch Allergy Immunol [Internet]. 2021[citado 12/02/2020]; 182:1122-1126. Disponible en: https://doi.org/10.1159/000516596

15. Vaseghi-shanjani M, Smith KL, Sara RJ, Modi BP. Inborn errors of immunity manifesting as atopic disorders. J Allergy Clin Immunol [Internet]. 2021[citado 12/02/2020]; 148(5): 1130-1139. Disponible en: https://doi.org/10.1016/j.jaci.2021.08.008

16. Reust CE. Evaluation of primary immunodeficiency disease in children. Am Fam Physician [Internet]. 2013[citado 12/02/2020]; 87(11):773-8. Disponible en: www.aafp.org/afp

17. Casanova JL, Laurent A. Lethal Infectious Diseases as Inborn Errors of Immunity : Toward a Synthesis of the Germ and Genetic Theories. Annu Rev Pathol Mech Dis [Internet]. 2021[citado 12/02/2020]; 16: 23-50. Disponible en: https://doi.org/10.1146/annurev-pathol-031920-101429

18. Hauck F, Gennery AR, Seidel MG. Editorial : The Relationship Between Cancer Predisposition and Primary Immunodeficiency. Front Immunol [Internet]. 2019[citado 12/02/2020]; 10: 1-3. Disponible en: https://doi.org/10.3389/fimmu.2019.01781

19. Abolhassani H, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, Yazdani R, et al. National Consensus on Diagnosis and Management Guidelines for Primary Immunodeficiency. Immunol Genet J [Internet]. 2019[citado 12/02/2020]; 2(1): 8-20. Disponible en: https://www.sid.ir/FileServer/JE/50012620190104

20. Hendaus MA, Alhammadi A, Adeli MM, Al-yafei F. The Value of Family History in Diagnosing Primary Immunodeficiency Disorders. Case Rep Pediatr [Internet]. 2014[citado 12/02/2020]; 2014. Disponible en: http://dx.doi.org/10.1155/2014/516256

21. Immune Deficiency Foundation. Patient & Family Handbook for Primary Immunodeficiency Diseases [Internet]. 5th Editio. Towson, MD: Immune Deficiency Foundation[Internet]; 2013[citado 12/02/2020]. Disponible en: https://www.idfa.org.au/wp-content/uploads/2020/09/IDF_Patient_Family_Handbook_5th_Edition.pdf

Published

2022-06-27

How to Cite

1.
Orraca-Castillo O, Peláez-Yáñez LA, Solana-Rodríguez JO, Valdés-Lanza L, Miló-Valdés CA, Lugo-Hernández A, et al. Model for clinical history in primary immunodeficient patients, Pinar del Rio. Rev Ciencias Médicas [Internet]. 2022 Jun. 27 [cited 2025 Aug. 14];26(3):e5565. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/5565

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Section

ORIGINAL ARTICLES