New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006.
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Humans↗
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Primary immunodeficiency diseases in Latin America: first report from eight countries participating in the LAGID. Latin American Group for Primary Immunodeficiency Diseases.
The Latin American Group for Primary Immunodeficiencies, formed in 1993, presently includes 12 countries. One goal was to study the frequency of primary immunodeficiencies in various regions of the American continent and to enhance knowledge about these diseases among primary-care physicians, as well as allergist-immunologists. Important for this purpose was the development of a registry of primary immunodeficiencies using a uniform questionnaire and computerized database. To date, eight countries have collected information on a total of 1428 patients. Predominantly antibody deficiencies were reported in 58% of patients, followed by cellular and antibody immunodeficiencies associated with other abnormalities in 18%, immunodeficiency syndromes associated with granulocyte dysfunction in 8%, phagocytic disorders in 9%, combined cellular and antibody immunodeficiencies in 5%, and complement deficiencies in 2% of patients. The information gathered from this initial analysis of data will serve to expand the patient database to more areas within participating countries and to new countries and to increase collaboration toward better diagnosis and treatment of these diseases.
Humans↗
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
Although relatively rare, primary immunodeficiency 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 PIDs was created by a committee convoked 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 120 PIDs has been elucidated. This update results from the latest meeting of this committee in Budapest, Hungary, in June 2005, which followed 2 1/2 days of scientific discussions. As a result of this work, new entities have been included, and the nomenclature of some PIDs (specifically of the various forms of class-switch recombination defects, previously known as hyper-IgM syndromes) has been changed.
B-Lymphocytes↗
Primary immunodeficiency syndrome in Japan. I. Overview of a nationwide survey on primary immunodeficiency syndrome.
The results of a nationwide survey on primary immunodeficiency syndrome (PIS) in Japan are presented. By the repeated questionnaire method, 497 PIS cases were collected prior to February 1979 with clinical information. Numbers of each type of PIS, age at the time of diagnosis, patient's status at the time of registration, familial incidence of PIS, and development of malignancy, autoimmune diseases, and allergic diseases among all reported patients are presented and discussed.
Adolescent↗
Autoimmunity in human primary immunodeficiency diseases.
Human primary immunodeficiency diseases are experiments of nature characterized by an increased susceptibility to infection. In many cases, they are also associated with troublesome and sometimes life-threatening autoimmune complications. In the past few years, great strides have been made in understanding the molecular basis of primary immunodeficiencies, and this had led to more focused and successful treatment. This review has 3 aims: (1) to highlight the variety of autoimmune phenomena associated with human primary immunodeficiency diseases; (2) to explore how primary immunodeficiencies predispose patients to autoimmune phenomena triggered by opportunistic infections; and (3) to consider the rationale for the current treatment strategies for autoimmune phenomena, specifically in relation to primary immunodeficiency diseases. Reviewing recent advances in our understanding of the small subgroup of patients with defined causes for their autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.
Autoimmune Diseases↗
Primary immunodeficiency diseases.
Primary immunodeficiencies are rare, but important for 3 reasons. First, a high index of suspicion and prompt diagnosis can lead to lifesaving treatment or significant improvement in quality of life. Second, appreciation of the genetic nature of a host defense defect makes possible family counseling and carrier and prenatal diagnosis. Finally, the large and growing list of human genetic defects in immune pathways provides an important tool for understanding human immunoregulation. Many inherited immunodeficiency diseases have had their genetic cause proven with the discovery of their disease genes within the past 5 years. These diseases provide a framework into which additional diseases and disease gene discoveries can be added as the rapid progress in molecular immunology and genetics continues.
Clinical Laboratory Techniques↗
Polysaccharide antibody responses are impaired post bone marrow transplantation for severe combined immunodeficiency, but not other primary immunodeficiencies.
Established treatment of severe combined immunodeficiencies (SCID) and other primary immunodeficiencies (PID) is bone marrow transplantation (BMT). Normal lymphocyte numbers and protein antigen responses are present within 2 years of BMT, polysaccharide antibody responses appear last. Streptococcus pneumoniae infection causes significant morbidity and mortality post-BMT. Previous studies have shown good protein antigen responses post-BMT for SCID and PID, but had not examined the polysaccharide responses. We retrospectively analysed pneumococcal polysaccharide (PPS) responses in our patient series. In total, 22 SCID and 12 non-SCID PID were evaluated, all >2 years post BMT: 17 SCID, 12 PID received chemotherapy conditioning; 17 SCID, three PID had T-cell depleted (TCD) BMT, others had nonconditioned whole marrow BMT. All had normal Haemophilus influenza B and tetanus antibody responses. Of 22 SCID, 13 vs 11/12 PID responded to PPS vaccine (P=0.05). There was no association with donor age, GvHD, B-cell chimerism, or IgG2 level. Fewer TCD marrow recipients responded to PPS (P=0.04). Analysis of the SCID group showed no association of PPS response with type of marrow received. This is the first study to specifically examine PPS antibody responses following SCID and PID BMT. Pneumococcal conjugate vaccine antibody responses should be examined in these children.
Adult↗
12. Primary immunodeficiency diseases.
Although primary immunodeficiency disorders are relatively rare, intensive investigation of these disorders has yielded a great wealth of understanding of basic immunologic mechanisms in host defense, inflammation, and autoimmunity. These advances have led to important developments for the treatment not only of the primary immunodeficiencies but also for patients with secondary immunocompromised states, autoimmune disorders, hypersensitivity, graft rejection, and graft versus host disease. Correction of a form of severe combined immunodeficiency represents the first true success of human gene therapy. This review introduces the major clinical manifestations of primary immunodeficiency disorders, along with descriptions of essential elements of the pathophysiology of those disorders that have been defined at the molecular level. Key concepts in treatment are also presented. It is critical for the practicing primary care provider and allergist to maintain an index of suspicion for immunodeficiency. Early diagnosis offers the best opportunity for reduced morbidity and survival and is critical for accurate genetic counseling.
Antibodies↗
Primary immunodeficiencies of horses.
Primary immunodeficiency disorders are genetically determined failures of immune defense that increase susceptibility to infectious agents. This article reviews the salient features of equine primary immunodeficiency disorders, summarizes the molecular mechanisms of each disorder, and updates information that facilitates diagnosis and management of affected horses. The central theme is to encourage clinicians to ask, "I wonder if this horse has an underlying primary immunodeficiency disorder?" when caring for horses suffering from chronic and recurring infections and responding poorly to standard therapy.
Agammaglobulinemia↗
[Primary immunodeficiencies in Spain. Data of the Spanish Registry of Primary Immunodeficiencies. REDIP 1980-1999 (Registro Español de Immunodeficiencias Primarias)].
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Child↗
Primary immunodeficiency mutation databases.
Primary immunodeficiencies are intrinsic defects of immune systems. Mutations in a large number of cellular functions can lead to impaired immune responses. More than 80 primary immunodeficiencies are known to date. During the last years genes for several of these disorders have been identified. Here, mutation information for 23 genes affected in 14 immunodefects is presented. The proteins produced are employed in widely diverse functions, such as signal transduction, cell surface receptors, nucleotide metabolism, gene diversification, transcription factors, and phagocytosis. Altogether, the genetic defect of 2,140 families has been determined. Diseases with X-chromosomal origin constitute about 70% of all the cases, presumably due to full penetrance and because the single affected allele causes the phenotype. All types of mutations have been identified; missense mutations are the most common mutation type, and truncation is the most common effect on the protein level. Mutational hotspots in many disorders appear in CPG dinucleotides. The mutation data for the majority of diseases are distributed on the Internet with a special database management system, MUTbase. Despite large numbers of mutations, it has not been possible to make genotype-phenotype correlations for many of the diseases.
Alleles↗
Primary immunodeficiency disorders.
The primary immunodeficiency diseases are a relatively rare group of congenital disorders that are linked by the expression of an excessive number, duration, or severity of infections. The clinical features of most of the primary immunodeficiency diseases have been well described by astute physicians over several decades and have provided important clues to our basic understanding of human immunology. In contrast, the genetic basis and potential life-saving therapies for many of these disorders have been established only over the past few years. These recent advances have resulted in the prognosis of many of these disorders being largely dependent on their rapid recognition and treatment. Increased awareness of the differentiating epidemiologic, clinical, laboratory and genetic features of these diseases hold the promise of both furthering our understanding of basic human immunology and providing improved care for this challenging group of patients.
Antibody Formation↗
Neutropenia associated with primary immunodeficiency syndromes.
The primary immunodeficiency diseases are a heterogeneous group of more than 75 disorders characterized by intrinsic defects in the functions of the immune system. Many are associated with abnormalities of hematopoiesis as well. This article will review those primary immunodeficiency syndromes in which neutropenia is a prominent finding, including X-linked agammaglobulinemia (XLA), hyper IgM syndrome, common variable immunodeficiency (CVID), IgA deficiency, cartilage-hair hypoplasia (CHH), and reticular dysgenesis, with regards to pathophysiologic findings and treatment.
Agammaglobulinemia↗
[Ear, nose, and throat manifestations in patients with primary immunodeficiencies].
OBJECTIVE: To determine the flowgram for the timely diagnosis of the immunodeficiencies congenital primary, based on the demonstrations otorrinolaringol recurrent chronicles to difficult control, with or without associated systemic diseases. MATERIAL AND METHOD: Retrospective study, descriptive and observational that included patient with diagnostic of primary known immunodeficiency. They were checked the clinical files to know their evolution and medical treatment-surgical. RESULTS: They were found 10 patient with diagnostic of some primary immunodeficiency; this was made based on the infectious symptoms otolaryngal chronic recurrent to difficult control; they were six men and four women between the four and 36 years old. They were found the following immunodeficiencies: one of hyper-IgM, three by IgG, variable common three, a deficit with C3 of the complement, two of IgA more atopia. CONCLUSIONS: The chronicle sinusitis or recurrent and the otitis mean chronicle or recurrent can be the only demonstrations of a patient with primary immunodeficiency. The immunology evaluation must include, at least: hematic biometric completes with differential, seric levels of immunoglobulins, the same as subclass of IgG, C4 and C3 of the complement, response to immunization with proteins (diphtheria and tetanus), and polysaccharide antigens (pneumovax).
Adolescent↗
Clinical immunology of immunodeficiency diseases symptoms and signs of primary immunodeficiencies.
This article gives a general overview of the signs and symptoms observed in primary immunodeficiencies (PID). These diseases, although rare, are useful in the understanding of the specific functions and properties of the immune system. Emphasis has not been placed on the biological and laboratory features since the principal goal is to describe the clinical approaches for a correct diagnosis in this group of diseases. Schematic indications of therapy are given only in single diseases, when necessary. The report and the classification are organized according to the more recent recommendations of a Special WHO-Committee for Primary Immunodeficiencies.
Humans↗
Infectious complications of the primary immunodeficiencies.
The primary manifestation of the immunodeficiencies is undue susceptibility to infection. This means too many, too severe, too prolonged, too complicated and too unusual infections. Infections in immunodeficiency have a characteristic cause depending on the nature of the immune deficiency. Antibody deficiencies are associated with infections with gram-positive infections. Cellular immune deficiencies are associated with mycobacterial, protozoan, fungus, virus, and opportunistic bacterial infection. Phagocytic disorders are associated with staphylococcal, fungal, and gram-negative organisms. Complement disorders are associated by neisserial infections. Infections have also been implicated in the pathogenesis of some immunodeficiencies in some circumstances. These include human T lymphotropic virus type III (HTLV-III), rubella virus, cytomegalovirus, and Epstein-Barr virus. Several infectious syndromes in specific immunodeficiencies have been identified. Examples include enteric cytopathic human orphan (ECHO) virus encephalitis in agammaglobulinemia, and meningococcal meningitis in C6 deficiency. Infections can also be induced by live vaccines given in immunodeficiency (e.g., paralytic polio in agammaglobulinemia.) Unusual infectious syndromes will be illustrated including parainfluenza infection in severe combined and immunodeficiency, Legionella pneumonia in chronic granulomatous disease, and Cryptosporidium infection in hyper-IgM immunodeficiency.
Antibody Formation↗
Primary immunodeficiency disease in children: recognizing problems in primary care practice.
Dealing with recurrently ill children is a difficult task. Understanding when the health care provider should suspect primary immunodeficiency and what screening tests can be beneficial prior to referring a child to another health care facility is important for the primary care provider. This article presents a brief description of the immune system, diseases of primary immune deficiencies, and the clinical evaluation of a child with a primary immunodeficiency.
Child↗
Human primary immunodeficiency diseases: a perspective.
Primary immunodeficiency diseases consist of a group of more than 100 inherited conditions, mostly monogenic, predisposing individuals to different sets of infections, allergy, autoimmunity and cancer. Primary immunodeficiencies therefore represent exquisite models of various immunopathological settings. The identification of the associated genes, 100 so far, has generated a plethora of information about the immune system and spurred the analysis of many aspects of the development, function and regulation of both innate and adaptive immunity. These findings can potentially contribute to improved care of affected individuals by providing new diagnostic and/or therapeutic tools.
Cytidine Deaminase↗