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PubMed2007

The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.

Because primary immunodeficiencies (PID) are rare diseases, transnational studies are essential to maximize the scientific outcome and lead to improved diagnosis and therapy. Immunologists in Europe have united to determine the prevalence of PID in Europe and to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID as well as to improve the awareness of PID in Europe. In order to achieve this aim we have developed an internet-based database for clinical and research data on patients with PID. This database forms the platform for studies of demographics, the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. The database is completely secure, while providing access to researchers via a standard browser using password and encrypted log-in sessions and conforms to all European and national ethics and data protection guidelines. So far 2386 patients have been documented by 35 documenting centres in 20 countries. Common variable immunodeficiency (CVID) is the most common entity, accounting for almost 30% of all entries. First statistical analyses on the quality of life of patients show the advantages of immunoglobulin replacement therapy, at the same time revealing a mean diagnostic delay of over 4 years. First studies on specific questions on selected PID are now under way. The platform of this database can be used for any type of medical condition.

Adolescent↗
PubMed2006

Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry.

This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras, Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered, the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies. All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency diseases, more work on improving the registration of patients by each participating country and by countries that have not yet joined LAGID is still needed.

Birth Rate↗
PubMedDate not supplied

[The Spanish Registry of Primary Immunodeficiencies (REDIP)].

Two thousand and fifty cases (n = 2050) of primary immunodeficiencies (PID) were registered up to February 2001. The Spanish Register for Primary Immunodeficiencies (REDIP) began in 1993. PID nomenclature and diagnostic criteria were made according to the report of the World Health Organization Scientific Group (1999). The most frequent disorders were IgA deficiency (797 registers) and common variable immunodeficiency (CVI) (389), followed by severe combined immunodeficiency and predominantly T cell defects (268), complement deficiencies (207 registers), X-linked agammaglobulinemia (87), IgG subclass deficiency (71), chronic granulomatous disease (64). Gammaglobulin replacement was the therapy in 638 patients (76%) belonging to antibody deficient group. 61 bone marrow transplants were done, 46 severe combined immunodeficiencies, 6 phagocytic disorders and 1 unclassified. Important differences in the number of cases submitted from different country areas were found.

Agammaglobulinemia↗
PubMed1975

Primary immunodeficiency diseases and malignancy.

The incidence of malignant tumors in the primary immunodeficiency diseases is dramatically increased. Four patients with primary immunodeficiencies who developed fatal malignancies are reported. Lymphoreticular tumors and leukemia predominate in most conditions, but epithelial neoplasms are the most common tumors in selective Iga deficiency, and they comprise over one-fourth of malignancies in common variable immunodeficiency. With the exception of common variable immunodeficiency and the Wiskott-Aldrich syndrome, hyperplasia of lymphoid tissue usually does not occur. Lymph node enlargement in any of the other immunodeficiencies is therefore most likely secondary to malignancy. Benign gastrointestinal nodular lymphoid hyperplasia occurs frequently in common variable immunodeficiency and in some instances may be impossible to differentiate roentgenologically from lymphoma.

Adenocarcinoma↗
PubMedDate not supplied

Disulfide-linked and non-disulfide-linked gamma/delta T-cell antigen receptors: differential expression on T-cell lines and clones derived from normal donors and patients with primary immunodeficiency disorders.

We studied the expression of gamma delta T cell receptors (TCR) on T-cell lines and clones derived from peripheral blood lymphocytes (PBL) from certain patients with primary immunodeficiency disorders and normal donors. Immunoprecipitation with the anti-Leu 4, anti-gamma-chain and/or anti-delta-chain monoclonal antibodies followed by SDS-PAGE analysis revealed that 7 of 13 (54%) T-cell lines and clones developed from PBL of patients with primary immunodeficiency disorders expressed non-disulfide-linked gamma delta TCR, utilizing either the C gamma 2abc or the C gamma 2bc gamma-chain constant region gene segment. 5 of 13 (38%) T-cell lines/clones expressed disulfide-linked gamma delta TCR, whereas an additional T-cell line was comprised of T cells expressing either disulfide-linked (C gamma 1) or non-disulfide-linked (C gamma 2bc) gamma delta TCR. T-cell lines and clones developed from four of light patients with primary immunodeficiency disorders exhibited exclusively non-disulfide-linked gamma delta TCR utilizing either the C gamma 2abc or the C gamma 2bc gamma-chain segment. T-cell lines derived from a fifth patient exhibited primarily non-disulfide-linked gamma delta TCR, bringing to five of eight the numbers of patients that expressed exclusively or primarily non-disulfide-linked gamma delta TCR. T-cell lines/clones derived from the remaining three patients exhibited exclusively disulfide-linked gamma delta TCR. The age of these patients varied over a wide range and there was not an association between their age and the type of gamma delta TCR expressed on T-cell lines derived from their PBL. In contrast, to these findings 14 of 16 (87.5%) T-cell clones derived from PBL of normal donors expressed disulfide-linked gamma delta TCR, whereas only 2 of 16 (12.5% expressed non-disulfide linked gamma delta TCR. Among the T-cell clones from normal donors which express disulfide-linked gamma delta TCR two different types were identified. Those exhibiting under reducing conditions on SDS-PAGE two completely resolved polypeptide chains in the range of 37 kD to 44 kD, and those exhibiting under the same conditions indistinguishable overlapping gamma- and delta- chains in the range of 40-42 kD. Several T-cell lines and clones from normal donors or patients with primary immunodeficiency that expressed either disulfide- or non-disulfide-linked gamma delta TCR were delta TCS1+, demonstrating that the delta TCS1 determinant is expressed on both types of gamma delta TCR.(ABSTRACT TRUNCATED AT 400 WORDS)

Antigens, CD↗
PubMed2004

Clinical evaluation and treatment of the adult patient with suspected primary immunodeficiency disease: a case analysis.

PURPOSE: To describe immunoglobulin G2 (IgG2) subclass deficiency in the context of primary immunodeficiency disorders, their pathophysiology, epidemiology, clinical evaluation, and management. DATA SOURCES: Actual case study and extensive review of the scientific and medical literature. CONCLUSIONS: Consideration should be given to primary immunodeficiency diseases as one possible cause of recurrent upper and lower respiratory tract infections in patients at any age. Early diagnosis and intervention can significantly reduce the burden of these diseases. IMPLICATIONS FOR PRACTICE: Advanced practice nurses need to keep pace with the ever-expanding field of immunity. Knowledge of basic principles of the immune system facilitates a logical approach to the evaluation and management of primary immunodeficiency diseases.

Aged↗
PubMed2004

Primary immunodeficiency diseases: an update.

Although relatively rare, primary immune deficiency diseases (PIDs) provide an excellent window into the functioning of the immune system. In the late 1960s, observations on these diseases, with their associated infections and genetics, bisected the immune system into humoral immunity and cell-mediated immunity. These diseases also represent a challenge in their diagnosis and treatment. Beginning in 1970, a unified nomenclature for the then-known primary immunodeficiency diseases was created by a committee convened by the World Health Organization. Since then, and later under the aegis of the International Union of Immunological Societies, an international committee of experts has met every 2 to 3 years to update the classification of PIDs. During the past 15 years, the molecular basis of more than 100 PIDs has been elucidated. This update results from the latest meeting of this committee in Sintra, Portugal, June 2003, which followed 2(1/2) days of scientific discussions.

Animals↗
PubMed2004

Leukocyte circulation: one-way or round-trip? Lessons from primary immunodeficiency patients.

The identification of chemokines has profoundly changed the way we interpret the immune response, elucidating the mechanism by which inflammatory cells are recruited to the site of infection by local secretion of chemoattractants such as CXC chemokine ligand 8 (CXCL8)/interleukin-8, chemokine ligand 2 (CCL2)/monocyte chemoattractant protein 1. This novel view of the immune response has been remodeled further following observations that lymphoid tissue development derives from the coordinated secretion of homeostatic chemokines such as CCL19, CCL21, and CXCL13, which mediate recruitment and clustering of the cells involved in lymphoid organogenesis. The study of primary immunodeficiencies has demonstrated that the number of circulating leukocytes is dependent on migration amongst bone marrow, blood circulation, and inflamed tissues. Defects of leukocyte adhesion and chemotaxis as a result of mutations of beta2-integrins lead to abnormal leukocytosis and susceptibility to skin infections, as observed in leukocyte adhesion deficiency. Conversely, neutropenia in children with myelokathexis is a result of leukocyte retention in the bone marrow because of the mutations of CXC chemokine receptor 4, which affect the capacity of cells to recirculate between blood and bone marrow. Moreover, the identification of the genetic basis of primary immunodeficiencies has shown that many primary immunodeficiencies such as Wiskott-Aldrich syndrome and common variable immunodeficiencies are characterized by altered migration of leukocytes and/or disregulation of cellular response to chemokines. This paper will be focused on the interpretation of primary immunodeficiencies as defects in leukocyte circulation between blood and primary and secondary organs.

Blood Circulation↗
PubMed1998

Chronic unexplained liver disease in children with primary immunodeficiency syndromes.

Liver disease may be found in patients with primary immunodeficiency syndromes because of the high risk of infection with hepatotropic viruses related to the treatment with blood derivatives. The prevalence of liver disease in these patients and its etiology, however, is still not completely understood. We have evaluated the prevalence and the etiology of liver disease in children with different forms of primary immunodeficiencies. Thirty patients included in the study underwent molecular studies to detect common hepatotropic viruses, including hepatitis C and G viruses. Liver involvement was found in 11 of 30 (36.6%) patients. All patients with liver disease had deficiencies of specific immunity, with a prevalence in this subgroup of 47.8%. Liver disease was more severe in patients with T and B cell combined immune disorders than in those with a selective T cell immunodeficiency. Moreover, the severity of the disease correlated with an overall more rapid fatal outcome. A viral etiology was found in only six of these patients, whereas in the remaining five patients, no cause of liver injury was identified. In the virally infected patients, hepatitis C virus was the most common viral agent. In patients with immunodeficiencies, there is a high prevalence of liver disease not fully explained on the basis of the common viral infections.

Adolescent↗
PubMed2001

Outcome of intravenous immunoglobulin-transmitted hepatitis C virus infection in primary immunodeficiency.

Physicians in the United States who treat patients with primary immunodeficiency were contacted to identify subjects who had been infected with hepatitis C due to exposure to contaminated intravenous immunoglobulin (IVIg) in 1993-1994. From this survey we gathered information on 58 PCR-positive hepatitis C-infected patients; 37 had CVID, 9 had XLA, 5 were IgG subclass deficient, 4 were antibody deficient with normal immunoglobulin levels, 2 had SCID after BMT, and 1 had B cell linker deficiency. Of the 58 subjects, 30 had been treated with IFN-alpha in combination with ribavirin in 5 cases, and 26 other subjects were not treated. Of those who were treated, 11 (37%) resolved the infection and became PCR-negative; of the 26 who were not treated, 5 (19%) have resolved the infection, outcomes not significantly different. Patients 20 years of age or younger had a significantly better outcome compared to those older than age 20 (P = 0.02). Five subjects of the 58 have had a liver transplantation, a sixth has had two transplants, and 10 (17%) of the group have died. This survey demonstrates the heterogeneity of the clinical outcome in subjects with primary immunodeficiency who contracted hepatitis C due to viral contamination of IVIg.

Adolescent↗
PubMed2006

[Health care and infective aspects in patients affected by common variable immunodeficiency assisted in the Lazio Regional Authority Reference Centre for Primary Immunodeficiencies].

Common variable immunodeficiency (CVID) is a chronic condition characterised by a predominant defect of humoral immunity. In most cases the diagnosis of CVID is made during adulthood; the main clinical features of CVID are chronic and relapsing infections (mainly of respiratory and gastroenteric tracts). CVID patients may also develop neoplastic and autoimmune diseases. In our centre (the Regional Centre for Primary Immunodeficiencies of the Lazio Regional Authority) we administered a 23-item questionnaire to 60 patients with CVID undergoing substitutive therapy with intravenous immunoglobulins (IVIG) about their demographic characteristics, time of clinical onset, time of diagnosis of CVID, clinical features, IVIG doses and administration intervals, and self-assessment of health status. In addition, the clinical history of all patients was reviewed, and the levels of serum IgG, IgA and IgM were evaluated and compared with the pre-therapy serum concentration. Moreover, an analysis of the treatment costs was performed. At onset, 67.2% of patients presented recurrent respiratory infections, and 50% had infections of the lower respiratory tract; 39.6% of the patients had gastroenteric infections. Most patients (57%) had recurrent infections of at least 2 of the respiratory, gastroenteric and/or urogenital tracts. In 37.9% of the group the diagnosis of CVID was made in less than 2 years after the beginning of symptoms, but in many cases (22.4%) the diagnosis took more than 10 years. 93% of patients are treated with a dose of IVIG between 6 and 15 g per administration, with intervals between 2 and 3 weeks. The review of patients'clinical history showed that 43% of patients have had respiratory infections during the follow-up in our Centre, 43% have splenomegaly (3% were also subjected to splenectomy) and 18.3% have autoimmune diseases. The mean concentration of IgG before the beginning of IVIG therapy was 235 mg/dl, while during the follow-up it was 664 mg/dl. Given the long time often required for diagnosis, general physicians and specialists should be better informed in order to make diagnosis swifter. The substitutive therapy with IVIG is effective in preventing recurrent infections and complications. A thorough follow-up is important for diagnosing neoplastic and autoimmune complications; in addition, immunologic analysis of peripheral blood and bone marrow are useful in identifying subgroups of patients with more severe clinical features. Finally, in selected patients, treatment costs may be controlled by modifying the dosage of IVIG or the intervals between administrations.

Adolescent↗
PubMed2005

Distribution of primary immunodeficiency disorders diagnosed in the Children's Medical Center in Iran.

Primary immunodeficiency disorders include a variety of diseases that render patients more susceptible to infections. To determine the percentage of different primary immunodeficiency disorders diagnosed in the Children's Medical Center Hospital affiliated to Tehran University of Medical Sciences in Iran, we retrospectively reviewed the charts of the patients being referred to our hospital for immunologic evaluation of recurrent infections during a 20 year period. Among these patients, antibody deficiencies were the most frequent ones and were found in 52.6% of patients (n = 130). T-cell disorders, phagocytic disorders and complement deficiencies were found to be present in 24.69% (n = 61). 22.2% (n = 55) and 0.4% (n = 1) respectively. On the whole, common variable immunodeficiency was the most frequent disorder (n = 65), followed by ataxia telangiectasia (n = 39), X-linked agammaglobulinemia (n = 33), chronic granulomatous disease (n = 29) and selective IgA deficiency (n = 20). This study reveals that antibody deficiencies are the most common type of disorders as shown in other studies. A comparative study shows some differences between our results and other registries. This article also indicates that immunodeficiency disorders should be considered in patients with recurrent infections.

Adolescent↗
PubMedDate not supplied

[Directory of diagnostic tests in primary immunodeficiencies].

The clinical and immunological characteristics that suggest diverse forms of primary immunodeficiency are discussed. Data on the hospitals that perform immunological, molecular and genetic tests for the diagnosis of most of the primary immunodeficiencies in Spain are presented.

Algorithms↗
PubMed2003

Tracking gene expression in primary immunodeficiencies.

PURPOSE OF REVIEW: Extensive research on molecular genetics in recent decades has provided a wealth of information about the mechanisms of primary immunodeficiency diseases. Microarray technology enables the survey of the expression of thousands of genes simultaneously. This review focuses on the commonly used arrays and initial applications in the study of primary immunodeficiency diseases. The application of this technology has been found to accelerate the discovery rate of gene expression disturbances in primary immunodeficiency diseases and provide potential molecular diagnostic tools. RECENT FINDINGS: The important role of microarray technology in functional genomic study has been demonstrated by the exponential growth in the number of scientific publications in the last few years. Microarray analysis has been used to study gene expression in several immunodeficiency diseases with known gene mutations as well as those with unknown causes. It has provided snapshots of gene expression and has presented the molecular phenotypes in the cells at defined times and under certain stimulation conditions. Studies comparing differential gene expression in patients and normal controls have allowed us to better understand the immunodeficiencies at the molecular level. SUMMARY: Application of microarray technology in immunodeficiency study has facilitated tracking the expression of thousands of genes simultaneously. The molecular phenotypes obtained from microarray results can be used in diagnosis of diseases, supplemental to clinical phenotypes. It is a powerful survey tool that can detect disturbed gene expression in immunodeficiency diseases, which will provide clues for disease gene discovery and potential targets for drug development.

B-Lymphocytes↗
PubMedDate not supplied

Primary immunodeficiency disorders in children: prompt diagnosis can lead to lifesaving treatment.

Primary immunodeficiencies in children are rare, but an early diagnosis can improve long-term quality of life and prevent rapid deterioration of the immune system. More than 70 immunodeficiency diseases have been identified and are classified according to the areas of the immune system that are compromised. When a suspicious history or an uninterrupted pattern of infections leads the practitioner to suspect immunodeficiency, it is essential that proper immunologic testing be initiated as soon as possible. Once a diagnosis is established, the practitioner and a team of experts all are involved in the multidisciplinary treatment, counseling, and longitudinal care of children with primary immunodeficiency.

Adolescent↗
PubMed1977

HLA frequencies in primary immunodeficiency diseases (pidd).

Thirteen patients with primary immunodeficiency disorders and their twenty-five healthy first-degree relatives were tissue typed and their HLA make-up was compared with that of a normal control population. HLA-A2 occured in 92.3% of patients as opposed to 60.8% in the control group (P less than 0.02), HLA-A9 in 7.6% vs. 25% (P less than 0.02) and HLA-B8 in 0% vs. 21% (P less than 0.04). One of the patients with severe combined immunodeficiency showed one "extraneous" HLA specifity.

Adolescent↗
PubMed1994

Thymosin alpha 1 effects, in vitro, on lymphokine-activated killer cells from patients with primary immunodeficiencies: preliminary results.

In patients with primary immunodeficiencies the role of natural killer (NK)- and lymphokine (IL-2)-activated killer (LAK)-cells is not yet satisfactorily established. Using a clonogenic assay with K562 leukemia target cells, we studied their NK- and LAK-cell activity in vitro. Moreover, the effect of thymosin alpha 1 (T alpha 1) on LAK-cell activity was studied in 11 patients with different immunodeficiencies. The results were compared with data of healthy controls (n = 11) and cord blood samples (n = 6). Common variable immunodeficiency patients demonstrated a mean LAK-cell activity of about 65% of normal controls and cord blood samples. The moderately reduced LAK-cell activity was not affected by T alpha 1. In the immunodeficient other patients, low levels of LAK-cell activity with a mean value of 10% of normal controls were seen. The mean LAK-cell activity could be improved by T alpha 1: three patients showed an improvement of their LAK-cell activity up to 25-30% after T alpha 1 administration in vitro, but in one case T alpha 1 was without any effect. Analysis of the expression of the surface markers CD8, CD16, CD57 and CD8/CD57 revealed that only CD16 positive lymphocytes were significantly less in immunodeficient patients. We found a linear correlation between LAK-cell activity and CD8/CD57 double positive lymphocytes in all patients. Our results demonstrate that suppressed LAK-cell activity from immunodeficient patients can be individually improved by T alpha 1. Further in vivo studies should evaluate thymic peptide immunotherapy for individual immunodeficient patients.

Adolescent↗
PubMed2005

Molecular defects in T- and B-cell primary immunodeficiency diseases.

More than 120 inherited primary immunodeficiency diseases have been discovered in the past five decades, and the precise genetic defect in many of these diseases has now been identified. Increasing understanding of these molecular defects has considerably influenced both basic and translational research, and this has extended to many branches of medicine. Recent advances in both diagnosis and therapeutic modalities have allowed these defects to be identified earlier and to be more precisely defined, and they have also resulted in more promising long-term outcomes. The prospect of gene therapy continues to be included in the armamentarium of treatment considerations, because these conditions could be among the first to benefit from gene-therapy trials in humans.

B-Lymphocytes↗