Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary immunodeficiency comprises a heterogeneous group of disorders. Autoimmune and/or rheumatic manifestations are not uncommon in these patients. It may be the first and/or sole sign before the underlying disease is established. This study focuses on the children of primary immunodeficiency with autoimmune disease to survey the clinical and laboratory finding retrospectively. From January 1985 to June 1998, ten patients (M:F = 9:1) of primary immunodeficiency with at least one well defined autoimmune disease were identified. The underlying immunodeficiency included three with Bruton's disease, three with common variable immunodeficiency, one with hyper-IgM, one with primary CD4 T-cell deficiency and two with Wiskott-Aldrich syndrome. The autoimmune manifestations include arthritis in six, ulcerative colitis in one, and autoimmune hemolytic anemia in three children. The major treatment was steroid and non-steroid anti-inflammatory drug. Infection could be controlled with antibiotics and intravenous immunoglobulin in all save one. The morbidity among these patients included bronchiectasis with pulmonary hypertension in three, joint stiffness, short stature, and delayed puberty in two. In conclusion, autoimmune diseases are frequently seen in patients with primary immunodeficiency. It could be the first and/or sole sign of disease. The possibility of immunodeficiency should be kept in mind when evaluating patients with autoimmune diseases.
 ...
PMID:Autoimmune manifestations in patients with primary immunodeficiency. 1091 Jun 21

Common variable immunodeficiency is the most common symptomatic primary immunodeficiency disease. The patients typically present with a long history of respiratory tract infections, sometimes sarcoid-like lesions and in rare cases boils. Heterogeneity of initial clinical manifestations as well as insufficient knowledge of the syndrome often delay the diagnosis. However, early therapy is important to reduce infections and in particular the development of bronchiectasis. Documenting 19 cases, we discuss initial clinical manifestations, some clinical complications, diagnostic procedures and therapeutic management.
 ...
PMID:[CVID (common variable immunodeficiency): heterogeneous clinical manifestation of the commonest symptomatic primary immunodeficiency disease]. 1110 May 12

A young woman with DiGeorge anomaly showed normal immune tests as a child and did not experience the symptoms of profound T cell immunodeficiency. However, she had chronic pulmonary infections which led to bronchiectasis. At age 14, she developed an Epstein-Barr virus-induced lymphoma and her T cell function tests were markedly abnormal. After intensive chemotherapy, she received an organ-cultured thymus transplant but because of an abnormally high EBV DNA titer was also given autologous EBV-specific cytotoxic T cells, prepared prior to transplant. Titers fell from 80,000 genome copies/mg DNA to 2000 within 6 weeks. She was clinically well and her T cell tests improved. Sixteen months after the transplant, however, her tumor returned; EBV DNA levels had risen to 40,000 copies/mg DNA. She again received autologous EBV-specific cytotoxic T lymphocytes and valcyclovir and Cytogam as well. Her tumor resolved on this therapy and she has remained well to this date, 29 months after the recurrence. T cell tests, which had deteriorated with the recurrence of the tumor, now show normal responses. This experience records a number of unique features of thymus transplantation. This is the first recorded successful thymus transplant in a patient with partial T cell immunity and thus expands the potential of this treatment modality to patients other than infants with complete DiGeorge anomaly. The patient demonstrates cytotoxic activity against mouse cells, demonstrating the ability to respond to a new antigen which requires host antigen presenting cells. Measurement of alpha 1 TRECs (T cell receptor excision circles) shows evidence of increasing and sustained thymopoiesis since the transplant at a level consistent with the age of the transplant donor rather than that of the recipient.
 ...
PMID:Correction of DiGeorge anomaly with EBV-induced lymphoma by transplantation of organ-cultured thymus and Epstein-Barr-specific cytotoxic T lymphocytes. 1114 27

This case study reported a 17-year-old female of common variable immunodeficiency (CVID) associated with bronchiectasis, pernicious anemia and mosaic trisomy 8. Clinically this patient presented with recurrent sinopulmonary infections, intractable diarrhea, macrocytic anemia, and primary amenorrhea. Immunological tests showed pan-hypogammaglobulinemia and a decrease of peripheral blood B cells (4%) and CD4+ cells (25%). Lymphoproliferative responses to mitogen (PHA) and specific antigen (BCG) were profoundly impaired in the patient in comparison to those in control. Production of interleukin 4 (IL-4) and gamma interferon (IFN-gamma) in the in vitro lymphoproliferation was also profoundly depressed. Pernicious anemia demonstrated by larger MCV (112.9 fl) and hyper-segmental granulocytes on peripheral blood smear responded to parental administration of vitamin B12. Interestingly, she had a mosaic trisomy 8 in peripheral blood mononuclear cells but normal 46XX karyotype in the bone marrow cells. To our knowledge, this is the first case of CVID associated with mosaic trisomy 8 reported in the literature. As the case exemplifies, CVID should be considered when the physicians evaluate the patient presenting with recurrent sinopulmonary infections, diarrhea, malnutrition, and pernicious anemia. It requires further study to explore whether the genes in the chromosome 8 are linked to CVID.
 ...
PMID:Common variable immunodeficiency with mosaic trisomy 8: report of one case. 1119 41

Common variable immunodeficiency (CVID) is a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and various immunologic abnormalities. The clinical presentation is generally that of recurrent pyogenic sinopulmonary infections. Our objectives were to study the prevalence of lung involvement and the response to intravenous immunoglobulin replacement therapy in 19 patients with CVID. Nineteen patients (12 men) with a mean age (SD) of 33.1 (17.1) years had a previous diagnosis of CVID and were treated with intravenous immunoglobulin replacement. All patients underwent complete pulmonary function tests and high-resolution computed tomography (HRCT) examination. Bronchiectasis was diagnosed in 11 (58%) patients and eight (42%) were multi-lobar bronchiectasis. Chronic airflow limitation (CAL) was present in 10 (53%) patients and a restrictive pattern was seen in one case. Eleven patients (58%) presented a decrease in single-breath carbon monoxide diffusing capacity of the lung (DL(CO)). Before intravenous immunoglobulin replacement therapy (INIRT), 84% of patients had suffered from at least one episode of pneumonia. Episodes of lower respiratory tract infection decreased significantly from 0.28 per patient and year before replacement therapy to 0.16 per patient and year after treatment. The mean duration of replacement therapy was 7.5 years. In conclusion lung involvement was frequent in patients with CVID. Long-term administration of intravenous gammaglobulin resulted in a substantial reduction of pneumonic episodes.
 ...
PMID:Respiratory disorders in common variable immunodeficiency. 1126 36

We present a case report and review of the literature that illustrates many key features of patients with common variable immunodeficiency (CVID). These patients frequently present with repeated infections with a variety of different microorganisms. Recurrent sinopulmonary infections can lead to serious chronic complications such as bronchiectasis, and gastrointestinal infections can result in malabsorption. In addition to serious infection, CVID is associated with a number of comorbid disorders including a variety of autoimmune diseases and neoplasms. Here, we provide an illustrative case report and discuss the primary features and therapy for patients with CVID.
 ...
PMID:Common variable immunodeficiency. 1189 36

Two hundred and eight children with recurrent pneumonia were studied over a 5-year period. Among these patients we found 10 cases with primary immunodeficiency disease: 6 cases of IgA deficiency, 1 case of X-linked agammaglobulinemia, 1 case of common variable immunodeficiency, 1 case of hyper IgM syndrome, and 1 case of Wiskott-Aldrich syndrome. This study describes the clinical features of these cases and assesses the usefulness of our immunodeficiency screening protocol. In this group 6 were males; the mean age at first episode of pneumonia was 3 years (range 3 months to 18 years), and the age of diagnosis ranged between 10 months and 19 years. The average number of episodes of pneumonia in each patient was 5 (range 2 to 12), and the number of hospitalizations ranged up to 13. The etiologic agents isolated from this recurrent pneumonia were S. pneumoniae, Moraxella, adenovirus, respiratory syncytial virus, and influenza B virus. Intravenous immunoglobulin was used in four cases. Two patients had chronic pulmonary damage with bronchiectasis and interstitial pneumonia. Only one patient died (Wiskott-Aldrich syndrome) during the follow-up from an intracranial hemorrhage. We found that the screening protocol applied to patients with recurrent pneumonia is a useful tool for ruling out the primary immunodeficiency disorders.
 ...
PMID:Recurrent pneumonia as warning manifestation for suspecting primary immunodeficiencies in children. 1190 19

Common variable immunodeficiency (CVID) is the most prevalent of the primary immunodeficiencies, and is characterised by low IgG and IgA, and sometimes IgM. There is some evidence of genetic susceptibility, with 20% of patients having a dominantly inherited disorder with variable expression. It is a heterogeneous disorder with protean manifestations, and as a result diagnosis is often delayed until the second or third decade, with resultant irreversible organ damage, in particular bronchiectasis. Effective treatment is available with regular 3-4-weekly infusions of immunoglobulin. The mechanism of the immunodeficiency has not yet been fully elucidated. The majority of patients present with recurrent sinopulmonary infection, however, this is a multisystem disorder and thus presents to physicians in diverse specialties including dermatology. Other clinical features of the disorder include gastrointestinal problems, granulomatous inflammation, cutaneous features, unusual presentations of enteroviral and mycoplasma infection, an increased incidence of autoimmunity, and a predisposition to lymphoma and stomach cancer. Therefore a knowledge of the disorder and appropriate suspicion by all clinicians of the possibility of such rare problems and a consequent low threshold for performing relevant investigations is imperative in allowing early recognition and instituting effective treatment. We describe a case of CVID identified when the patient developed widespread skin infection, fever and malaise. This case is an important example of a possible presentation of CVID within the dermatology clinic and demonstrates that maintaining a high level of clinical suspicion is essential for the diagnosis of the rare primary immunodeficiencies.
 ...
PMID:A case of common variable immunodeficiency presenting with furunculosis. 1217 14

This case illustrates the reopening of foramen ovale in a young patient with chronic pulmonary hypertension caused by bronchiectasis and chronic pulmonary fibrosis, which resulted in a prominent right-to-left shunt and severe hypoxia. Her clinically unsuspected right-to-left shunt was discovered during ventilation-perfusion scan, which was performed for the evaluation of pulmonary embolism. She had common variable immune deficiency, a primary immunodeficiency disease in which B-lymphocytes produce few or no antibodies. Most patients with this syndrome have an intrinsic defect in their B-lymphocytes that results in reduced immunoglobulin production. In these patients, recurrent respiratory tract infections are common and may result in chronic lung disease, fibrosis, particularly bronchiectasis (20-30%) and even cor pulmonale as happened in our patient [J. Clin. Immunol. 9 (1989) 22-33.].
 ...
PMID:Lung scan in the diagnosis and management of patent foramen ovale pulmonary embolism, paradoxical embolism. 1221 71

Common variable immunodeficiency (CVID) is the name given to a clinically heterogeneous group of hypogammaglobulinaemic immunodeficiency states. Bronchiectasis is a feature of this disease and is believed to be the result of recurrent bacterial infection affecting the respiratory tract. Bronchiectasis is also a feature associated with emphysematous changes of the lung in alpha-1 antitrypsin (AAT) deficiency, a serious and relatively common disease, affecting 1 : 2000 in the United Kingdom. This has been demonstrated to result from possession of deficiency alleles, the most clinically important alleles being PI*Z and PI*S. Isolated reports of families with antibody deficiency and AAT deficiency have been published but to date no study has been performed to specifically investigate if AAT deficiency is associated with the lung damage seen in CVID patients. We have developed a PCR genotyping assay that identifies S and Z deficiency alleles and we have used this assay in a preliminary study to investigate the occurrence of these deficiency alleles of AAT in 43 CVID patients. Results of this preliminary study suggest that CVID patients did not have an altered distribution of AAT genes when compared to 70 normal controls. Subgrouping of CVID patients into those with and without bronchiectasis demonstrated a Z allele frequency of 0.077 in those patients with bronchiectasis, which is higher than found in normal controls, namely 0.029 (P < 0.15). Due to the relatively small numbers studied, these results are inconclusive in determining whether AAT deficiency may exacerbate lung damage in some CVID patient, the data does however, indicate that a larger multi-centre study involving many more CVID patients may be useful.
 ...
PMID:A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis. 1245 40


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>