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Primary Immunodeficiency Diseases: A 30-year Patient Registry from the Referral Center for Primary Immunodeficiencies in Greece

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Abstract

Primary Immunodeficiencies (PID) represent a group of heterogeneous immune diseases with important biological significance. We reviewed the records of children diagnosed with PID in the Referral Center for PID in our country in order to describe the epidemiological, clinical and laboratory characteristics of immunodeficient patients. During a 30-year period, 147 patients (101 males, 68.7 %), with a mean age of 6.5 years at the time of diagnosis, were diagnosed with PID. The most prevalent diagnoses of PID were: “Combined Immunodeficiency” in 46 (31.3 %) patients, “Well-defined immunodeficiency syndrome” in 35 (23.1 %) patients, “Predominantly antibody deficiency” in 30 (20.4 %) patients and “Congenital defect of phagocyte function or both” in 28 (19 %) patients. There was a higher prevalence of males with “Combined immunodeficiency” (p < 0.033) and “Predominantly antibody deficiency” (p < 0.02) compared to females. The median age of children at the onset of symptoms and at the time of diagnosis was 0.5y (IQR: 0.1–2.5) and 2y (IQR: 0.6–7.2), respectively. The median diagnostic delay was 0.9y (IQR: 0.2–4.8). This period was shorter for patients with “Combined immunodeficiency” [median 0.3y (IQR: 0.1–1)], and longer for those with “Predominantly antibody deficiency” [median 3.2y (IQR: 0.2–5.9) or “Disease of immune dysregulation” [median 3.2y (IQR: 0.1–6.6)]. Comparing the rates in our population with those of the European Registry (ESID), the rates of “Combined immunodeficiencies”, “Well-defined syndromes” and “Congenital birth defects and/or function of phagocytes” were significantly higher in this study (p <0,001). PID registry analysis improves knowledge in the field of Immunology and enhances awareness, early detection, diagnosis, and management of this rare but significant group of diseases.

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Abbreviations

ALPS:

Autoimmune Lymphoproliferative Syndrome

APECED:

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

CGD:

Chronic Granulomatous Disease

CVID:

Common Variable Immunodeficiency

ESID:

European Society for Immunodeficiencies

HIES:

Hyper IgE Syndrome

IFN-γR1:

Interferon-γ Receptor 1

IUIS:

International Union of Immunological Societies

MHC:

Major Histocompatibility Complex

NOMID:

Neonatal Onset Multisystem Inflammatory Disease

CINCA:

Chronic Infantile Neurological Cutaneous Articular

PID/PIDs:

Primary Immunodeficiencies

SCID:

Severe combined immunodeficiency

WAS:

Wiskott-Aldrich Syndrome

XHIMS:

X-linked Hyper-IgM Syndrome

XLA:

X-linked agammaglobulinemia

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Acknowledgments

We acknowledge Alessandro Aiuti, Francisco Antonio Bonilla, Jean-Laurent Casanova, Graham Davies, Anne Durandy, Stephan Ehl, Teresa Espanol, Alain Fischer, Wilhelm Friedrich, Raif Geha, Silvia Giliani, Kimberly Gilmour, Bodo Grimbacher, Lennart Hammastom, Haifa Jabara, Alison Jones, Christine Kinnon, Anastasia Kondyli, Francoise Le Deist, Katy Mandalenaki, John Manis, M. Louise Markert, Gareth Morgan, Luigi Notarangelo, Hans Ochs, Gabriel Pantelias, Capucine Picard, Frederic Rieux-Laucat, Costas Ritis, Genevieve de Saint Basile, Fabian Schumacher, Klaus Schwarz, Antony Segal, Reinhart Seger, Edvard Smith, Christina Sobachi, Stephan Strobel, Anna Villa, Jean-Pierre de Villartay, Effie Vrachnou, David Webster, colleagues at “Aghia Sophia” and “P & A Kyriakou” Children’s Hospitals for their collaboration in many cases and for their contribution in diagnosis and/or management of certain patients, Paediatricians and Physicians from other Hospitals in Greece for referring their patients to us, as well as, nurses and technicians in our Department. We also thank 1st Health Region of Attica for supporting part of this project, Ms Penny Kassari for organizing part of this work, Mr Panos Liverakos for his encouragement, the Greek Lottery Company (Organismos Prognostikon Agonon Podosfairou - OPAP S.A) and the former President of the Board C. Hatjiemmanuil for a grant which was used for the genetic diagnosis and registry of a significant number of patients. Thanks to R. Halls for his support for the manuscript and special thanks to Mrs Pitsa Kalamotousis for her support for this project.

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Authors and Affiliations

  1. Department of Immunology-Histocompatibility, Specialized Center & Referral Center for Primary Immunodeficiencies - Paediatric Immunology, “Aghia Sophia” Children’s Hospital, Thivon & Papadiamantopoulou St, 11527, Athens, Greece

    Athanasios Michos, Maria Raptaki, Sofia Tantou, Marianna Tzanoudaki, Kleopatra Spanou, Manolis Liatsis, Nikki Constantinidou, Evangelia Paschali, Ioanna Varela, Olga Moraloglou & Maria Kanariou

  2. First Department of Pediatrics, University of Athens, “Aghia Sophia” Children’s Hospital, Athens, Greece

    Athanasios Michos & Chryssa Bakoula

Authors
  1. Athanasios Michos
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  2. Maria Raptaki
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  3. Sofia Tantou
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  4. Marianna Tzanoudaki
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  5. Kleopatra Spanou
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  9. Ioanna Varela
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  12. Maria Kanariou
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Correspondence to Maria Kanariou.

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Athanasios Michos and Maria Raptaki are contributed equally

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Michos, A., Raptaki, M., Tantou, S. et al. Primary Immunodeficiency Diseases: A 30-year Patient Registry from the Referral Center for Primary Immunodeficiencies in Greece. J Clin Immunol 34, 836–843 (2014). https://doi.org/10.1007/s10875-014-0066-8

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  • DOI: https://doi.org/10.1007/s10875-014-0066-8

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