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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Humoral (or antibody) immunodeficiency syndromes may occur as apparent congenital or acquired abnormalities, with deficiencies in all or in only some classes of immunoglobulins. Most patients are recognized because of recurrent infections with high-grade extracellular encapsulated bacterial pathogens, but some with selective IgA deficiency or with transient hypogammaglobulinemia of infancy may have few or no infections. Although general population statistics are not available, most defects are thought to be rare; humoral immunodeficiency is more prevalent than cellular immunodeficiency, possibly due to early death from the latter defects. Disorders affecting B-cell function may be inherited as X-linked recessive or as autosomal traits. Although considerable information exists about such defects at a functional and cellular level, the primary biologic errors are as yet unknown for all of them. Apparent abnormalities of B-cell maturation and/or intrinsic B-cell malfunction are seen in a majority of these defects. The heterogeneity of B-cell morphology and function in large pedigrees of patients with X-linked agammaglobulinemia makes it unlikely that the defect is due to a distinct gene rearrangement abnormality at a specific stage of B-cell maturation. Early recognition of B-cell deficiency and institution of adequate immunoglobulin replacement therapy can prevent extensive damage to the lungs and other life-threatening problems from infection and allow a relatively normal childhood and adult life.
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PMID:Humoral immunodeficiency. 242 51

Intravenous immunoglobulin has been used for hypogammaglobulinaemic conditions treated at the Royal Children's Hospital, Melbourne since 1972. Fifty-four children have been treated. Nineteen have been males with congenital hypogammaglobulinaemia (including 12 with sex-linked agammaglobulinaemia and 5 with hypogammaglobulinaemia with IgM); 8 have had common variable immunodeficiency, and 11 have had severe combined immune deficiency. Intravenous immunoglobulin has also been used for some patients with transient hypogammaglobulinaemia, isolated IgG deficiency, isolated IgA deficiency and isolated IgM deficiency. Infusions are given four weekly at a dose of 5-7.5 ml/kg of a 6% preparation (300-450 mg/kg). At diagnosis, a loading dose is given of 10-15 ml/kg (600-900 mg/kg). Previous studies have demonstrated a half-life of 25 days. The median preinfusion IgG concentration for the 22 children receiving monthly infusions currently is 68 IU/ml. Hospitalisation rates for infective illness have been reduced with the use of intravenous gammaglobulin. No patients are known to have developed hepatitis. Reactions to infusions are experienced by 60% of patients. These have not been reduced significantly by the addition of 10% maltose, but have been lessened considerably by using intravenous methylprednisolone (1 mg/kg) before the commencement of infusion.
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PMID:The long term treatment of childhood hypogammaglobulinaemia in Melbourne with intravenous gammaglobulin, 1972-1985. 244 Jul 42

Three boy cousins suffering from x-linked hypogammaglobulinaemia have been described. Their disease is quite different from the classical x-linked hypogammaglobulinaemia. We present data from 15 family members of three families. The three mothers are sisters and 3 boys from 5 are suffering from immunodeficiency. HLA A, B and DR typing and in vitro diagnostics of immune functions of all family members were carried out. In the patients we could demonstrate a well functioning T cell system which seems to be regular for T cell help on PMW driven B cell maturation into cytoplasmic immunoglobulin positive (cIg+) cells of all immunoglobulin classes but we had no evidence for IgG secreting cells in a plaque forming cell (PFC) assay. The registration of spontaneous suppressor phenomena should be taken into account. If patients undergo an gamma-globulin therapy the changed suppressor effects come back to normal values but the secretion defect is unchanged. The three healthy mothers express one identical haplotype (A2 B8 DR3) which we could demonstrate in the three patients but also in one healthy boy.
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PMID:X-linked hypogammaglobulinaemia with a late secretion defect. A family study. 244 12

The clinical and immunological data of 5 patients with transient h hypogammaglobulinemia of infancy (THI) are presented and compared to published data. In THI, there is distinction between patients who can mount a specific immune response, by producing specific antibodies to bovine serum albumin, diphtheria toxin, and isohemagglutinins, and patients with more severe forms of immunodeficiency. With only 5 reported cases of THI in 11 years and analysis of more than 8000 sera-, our data support the notion that THI is a relatively rare disorder. THI can only be diagnosed with certainty in retrospect, although the ability to mount an active, specific immune response is a strong indicator for the diagnosis. We propose a more accurate definition of THI to help avoid clinical misjudgement.
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PMID:Transient hypogammaglobulinemia of infancy: Five new cases, review of the literature and redefinition. 226 70

A 3-year-old boy who developed common variable immunodeficiency was investigated for the development of hypogammaglobulinaemia. During a period of 4 years, the combined deficiency of IgA, IgG2 and IgG4 proceeded to include IgG1 and finally IgG3 and IgM. This order of isotypes of IgG subclass deficiencies corresponded to the gene order for the heavy chain constant region for immunoglobulins on chromosome 14.
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PMID:Development of hypogammaglobulinaemia in a patient with common variable immunodeficiency. 261 5

Common variable (acquired) hypogammaglobulinemia (CVH) is a rare primary immunodeficiency disease of great interest as an immunological model of defects in antibody production. In this article, Gavin Spickett and John Farrant discuss evidence of abnormalities in lymphokine production and responses in the generation of the functional failure. It is not yet clear whether the B cell is intrinsically abnormal or lacks appropriate signals, but the block appears to occur in the differentiation phase of B cells, since membrane (but not secreted) IgG is made. Some T-cell defects also occur in this disease. The cause of CVH is unknown, although a viral aetiology has been suggested. Better understanding of lymphokine networks may allow the provision of specific signals to overcome the block in antibody production.
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PMID:The role of lymphokines in common variable hypogammaglobulinemia. 266 76

Extensive extralymphatic Hodgkin disease developed in a young man with common variable immunodeficiency manifested by hypogammaglobulinemia, recurrent sinopulmonary infections, and multiple autoimmune phenomena. Both humoral and cell-mediated immune dysfunction were present prior to treatment. After two cycles of chemotherapy, irreversible shock developed, and death occurred secondary to overwhelming infection in spite of prophylactic gammaglobulin replacement. The unusual features of this patient's case of extralymphatic Hodgkin disease in association with a primary immunodeficiency disorder have not been previously reported.
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PMID:Hodgkin disease in a patient with common variable immunodeficiency. 275 10

Common variable immunodeficiency (CVI) or hypogammaglobulinemia is a heterogeneous primary immunodeficiency disease in which B cells produce little or no antibody. Since the disease is relatively rare and the spectrum of associated illnesses is broad, patients are given care by a variety of specialists. Thus it has been difficult to determine the incidence of specific complications. In these studies we analyzed 103 consecutively referred CVI patients of age range 3-71 years (average, 29 years) who were followed for a period of 1-13 years (total of 750 patient years). The average serum IgG was 174.4 mg/dl for untreated patients and 301 mg/dl for patients treated with intramuscular immunoglobulin at the time of the first visit. The average IgA was 14.5, and the average IgM was 80.7, with no difference between or after immunoglobulin treatment. About one-half of the patients had T-cell dysfunction, but lymphocyte stimulation responses were inversely related to age, which implies worsened T-cell immunity with age. Serum IgG and IgA levels were found to be statistically associated (P = 0.008), and serum IgG was related to lymphocyte stimulation with concanavalin A (P = 0.01). By 1986, 79 patients were alive, 23 had died, and 1 could not be located. Recurrent bacterial illnesses were common to all patients, and 22% had developed chronic lung disease, 22% autoimmune disease, 15% cancer, 13% hepatitis, and 9% malabsorption. Autoimmune disease was more common in females, and cancer was more likely to develop in the fifth and sixth decades. In 11% of the group, other family members were found to be immunodeficient (hypogammaglobulinemic or IgA deficient). Nine patients died of respiratory insufficiency (with or without other complications), and seven patients died of cancer. These data provide valuable information about the immunologic abnormalities and the spectrum and frequency of illnesses associated with hypogammaglobulinemia.
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PMID:Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. 278 95

A 69-year-old woman sought treatment with a history of persistent debilitating intraoral ulcerations and recurrent oral and vaginal candidiasis. The medical history included thymoma, breast cancer, and lip cancer. The oral lesions were consistent with bullous lichen planus. Laboratory studies showed severe hypogammaglobulinemia. The chronic mucocutaneous candidiasis-thymoma syndrome is now recognized as a distinct form of primary immunodeficiency.
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PMID:Chronic mucocutaneous candidiasis-thymoma syndrome. A case report. 279 38

We describe the identification, experimental transmission, and pathogenesis of a naturally occurring powerfully immunosuppressive isolate of feline leukemia virus (designated here as FeLV-FAIDS) which induces fatal acquired immunodeficiency syndrome (AIDS) in 100% (25 of 25) of persistently viremic experimentally infected specific pathogen-free (SPF) cats after predictable survival periods ranging from less than 3 months (acute immunodeficiency syndrome) to greater than one year (chronic immunodeficiency syndrome), depending on the age of the cat at time of virus exposure. The pathogenesis of FeLV-FAIDS-induced feline immunodeficiency disease is characterized by: a prodromal period of largely asymptomatic viremia; progressive weight loss, lymphoid hyperplasia associated with viral replication in lymphoid follicles, lymphoid depletion associated with extinction of viral replication in lymphoid follicles, intractable diarrhea associated with necrosis of intestinal crypt epithelium, lymphopenia, suppressed lymphocyte blastogenesis, impaired cutaneous allograft rejection, hypogammaglobulinemia, and opportunistic infections such as bacterial respiratory disease and necrotizing stomatitis. The clinical onset of immunodeficiency syndrome correlates with the replication of a specific FeLV-FAIDS viral variant, detected principally as unintegrated viral DNA, in bone marrow, lymphoid tissues, and intestine. Two of seven cats with chronic immunodeficiency disease that survived greater than 1 year after inoculation developed lymphoma affecting the marrow, intestine, spleen, and mesenteric nodes. Experimentally induced feline immunodeficiency syndrome, therefore, is a rapid and consistent in vivo model for prospective studies of the viral genetic determinants, pathogenesis, prevention, and therapy of retrovirus-induced immunodeficiency disease.
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PMID:Experimental transmission and pathogenesis of immunodeficiency syndrome in cats. 282 40


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