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. There was a higher prevalence of males with "Combined immunodeficiency" (p < 0.033) and "Predominantly antibody deficiency" (p < 0.02) compared to females. 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. 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. 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. Primary Immunodeficiencies (PID) represent a group of heterogeneous immune diseases with important biological significance. Michos, Athanasios Raptaki, Maria Tantou, Sofia Tzanoudaki, Marianna Spanou, Kleopatra Liatsis, Manolis Constantinidou, Nikki Paschali, Evangelia Varela, Ioanna Moraloglou, Olga Bakoula, Chryssa Kanariou, Maria Primary immunodeficiency diseases: a 30-year patient registry from the referral center for primary immunodeficiencies in Greece.
Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia. The growing knowledge of various genetically determined pathologic mechanisms in patients with immunodeficiencies who have autoimmune symptoms opens up new avenues for personalized molecular therapies that could potentially treat immunodeficiency and autoimmunity at the same time, and that could be further explored in the context of autoimmune rheumatic diseases. In this Review, various primary immunodeficiency syndromes are presented, along with their pathogenetic mechanisms and relationship to autoimmune diseases, in an effort to increase awareness of immunodeficiencies that occur concurrently with autoimmune diseases and to highlight the need to initiate appropriate genetic tests. Moreover, risk factors for polygenic rheumatic diseases often exist in the same genes as the mutations that give rise to primary immunodeficiency syndromes.
Such genetic defects also predispose individuals to recurrent infections (a hallmark of immunodeficiency) and can cause primary immunodeficiencies, which can also lead to immune dysregulation and autoimmunity. Single-gene defects can cause rare diseases that predominantly present with autoimmune symptoms. Schmidt, Reinhold E Grimbacher, Bodo Witte, TorstenĪutoimmunity and immunodeficiency were previously considered to be mutually exclusive conditions however, increased understanding of the complex immune regulatory and signalling mechanisms involved, coupled with the application of genetic analysis, is revealing the complex relationships between primary immunodeficiency syndromes and autoimmune diseases. Autoimmunity and primary immunodeficiency: two sides of the same coin?
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