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

We report on a 22-year-old man with congenital hypogammaglobulinemia who developed multiple colorectal neoplasms. An immunodeficiency had been diagnosed in the patient since two years of age, and this time many tumors of the sigmoid colon and rectum were detected by barium enema and fiberscopy. Abdominoperineal resection was performed, and the resected specimen revealed 29 polyps, including 9 adenocarcinomas and 20 adenomas. The carcinomas, measuring 0.8 to 11.0 cm in size, showed various depths of invasion, and the adenomas, measuring 0.2 to 1.5 cm in size, showed various degrees of epithelial atypia. DNA analysis demonstrated that the tumors were heterogeneous, showing different DNA index and ploidy patterns. The pathogenetic relation between malignancy and immunodeficiency is also reviewed.
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PMID:Multiple colorectal neoplasms in a young adult with hypogammaglobulinemia. Report of a case. 173 25

Primary humoral immunodeficiency comprises a number of syndromes which in a descriptive manner indicate the nature and extent of the defect in the synthesis of specific antibodies and likewise of immunoglobulins. The understanding of humoral immunodeficiency has greatly advanced with the increase in knowledge about the cellular and molecular mechanisms of the development of B lymphocytes, which are the precursors of antibody-secreting plasma cells. This article reviews the advances made in the almost forty years that have passed since the first patient with agammaglobulinaemia was described. As far as X-linked agammaglobulinaemia is concerned, it is now clear that this is a disease of B lymphocytes, and that expression of the XLA gene prevents B cell development beyond the pre-B cell stage. Recent studies in patients with late-onset hypogammaglobulinaemia and selective IgA deficiency showed that there may be a common denominator for these two syndromes, since there is a close association with polymorphic antigens of the MHC class III region. Furthermore deletions or mutations of immunoglobulin genes can be the basis of selective deficiencies of one or several immunoglobulin isotypes. However, most of the humoral immunodeficiencies are based on defects in other non-immunoglobulin regulatory genes affecting or engaged in immunoglobulin-isotype synthesis. More recently patients have been described who have normal immunoglobulin isotype and complement levels and who show a selective defect in the antibody production to polysaccharide antigens. These patients most probably form a new disease entity in the spectrum of humoral immunodeficiency syndromes.
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PMID:Humoral immunodeficiency: from description to the cellular and molecular basis of the defect. 179 82

Transient but profound hypogammaglobulinemia occurred during cytomegalovirus (CMV) pneumonia in a patient who developed striking declines in number of T lymphocytes. A 66-year-old, female, human immunodeficiency virus-negative patient requiring long-term hemodialysis had normal serum immunoglobulin concentrations before the onset of CMV pneumonia (IgG, 1070-1470 mg/dl; IgA, 94-102 mg/dl; IgM, 30-48 mg/dl). During the pneumonia episode, serum immunoglobulin concentrations were profoundly reduced (IgG, 440 mg/dl; IgA, 40 mg/dl; IgM, 25 mg/dl). Total lymphocytes declined from 3048/mm3 to 212/mm3 with reductions in CD4+CD45- lymphocytes (inducers of B cells) to 9% (nl, 24%-32%) and CD4+CD45+ lymphocytes (inducers of suppressor T cells) to 4% (nl, 14%-22%). CD8 lymphocytes were reduced to 5% (nl, 19%-31%). As the pneumonia resolved, serum immunoglobulin concentrations returned to normal. This is one of the few reported instances of CMV infection apparently causing hypogammaglobulinemia.
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PMID:Hypogammaglobulinemia associated with cytomegalovirus pneumonia. 184 3

From January, 1982, to July, 1990, 51 children with recurrent infections were investigated for immunodeficiency in this department by testing neutrophil function, lymphocyte subsets and serum immunoglobulin and complement concentrations. The prevalence of immune dysfunction within the group was 39% (20 of 51). A previously described clinical scoring system, which aims to identify children with a history of recurrent infection who merit investigation for immunodeficiency was also applied to all 51 children. The scoring system identified only 55% (11 of 20) of those with laboratory-proved immunodeficiency and had a false negative rate of 45% (9 of 20). This latter group included 2 children with severe combined immunodeficiency and 1 with hypogammaglobulinemia, diagnoses that one cannot afford to miss. The system was not sufficiently sensitive to be of use in deciding which child to test for immunodeficiency.
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PMID:Assessment of a clinical scoring system for detection of immunodeficiency in children with recurrent infections. 192 81

Between a third and half of all males with SCID and no family history of immunodeficiency represent the first manifestation in their family of a new mutation of the gene that causes X-linked SCID. These patients, like boys with a positive family history of X-linked SCID, have markedly reduced numbers of T cells, elevated numbers of B cells, and hypogammaglobulinemia. The hypogammaglobulinemia is due, at least in part, to the expression of the gene defect in B cells as well as in T cells. Patients with X-linked SCID who are treated with bone marrow transplant tend to engraft T cells readily but they do not engraft B cells unless they are treated with cytoreductive therapy prior to transplant. B-cell function after transplant tends to be poor, even in patients who have received transplants from HLA matched siblings. Better transplant strategies are required to achieve optimum long-term results in patients with X-linked SCID.
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PMID:X-linked severe combined immunodeficiency. 193 18

Patients with hypogammaglobulinemia frequently show complications of the respiratory tract system. We analyzed electrophoresises in 1087 patients with acute and chronic non-specific lung diseases. It were found 14 cases (1,3%) of reproducible hypogammaglobulinemias with pathologic decrease of immunoglobulinfractions in immunoelectrophoresis. All cases could be confirmed as genetically determined by anamnesis and examinations of relatives. The frequency of primary immunodefects and in adults manifesting cases of "common variable immunodeficiency (CVID)" is given in literature with 10:10(6) for the whole population. We found in our patients with non-specific disorders an 1000 x increased incidence.
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PMID:[Incidence of hypogammaglobulinemia in patients with nonspecific lung diseases]. 194 54

The intravenous immune globulin (IGIV) preparations are reviewed with respect to method of preparation, pharmacokinetics, clinical uses (with emphasis on the labeled indications), and adverse reactions; a brief review of the immune system also is provided. IGIV preparations are approved for the treatment of hypogammaglobulinemia, recurrent bacterial infections due to B-cell chronic lymphocytic leukemia, and idiopathic thrombocytopenic purpura (ITP). The mechanism of action in the first two indications is passive replacement of antibodies, but in ITP the mechanism is not clearly established. The clinical literature on the use of IGIV for these indications is summarized. In patients with ITP, platelet counts return to safe levels and the number of infections is reduced in patients with primary humoral immunodeficiency treated with IGIV. The use of IGIV in pregnant women and premature infants is controversial. Adverse reactions are primarily related to infusion rate, activation of complement, and anaphylactic reactions to a component of the product. There is minimal to no risk of viral transmission with IGIV therapy. IGIV also has been administered safely on an outpatient or homecare basis. This has led to a feeling of greater control by patients over their chronic illness. Other uses of IGIV are under investigation. As our understanding of the immune system and the pharmacology of immune globulin increases, the uses of IGIV will expand.
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PMID:Use of intravenous immune globulin therapy: an overview. 194 41

Common variable immunodeficiency is a heterogeneous syndrome which may occur at any age and may be associated with recurrent sinopulmonary and gastro-intestinal infections, atopic illness, autoimmune disorders and varying degrees of hypogammaglobulinaemia (1). The clinical syndrome is very similar to that described in X-linked agamma-globulinaemia but the mode of inheritance is unknown (2). In this communication, a patient with Turner's syndrome with X-isoX chromosomal pattern in conjunction with common variable immunodeficiency is reported.
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PMID:Common variable immunodeficiency in association with Turner's syndrome. 196 51

With the aim of achieving earlier diagnosis of human, immunodeficiency virus (HIV) infection in infants, IgA and IgM HIV antibodies in serum samples from babies born to seropositive mothers were assayed by immunoblot and enzyme-linked immunosorbent assay after removal of IgG with recombinant protein G. 64 samples were from 38 HIV-infected babies with Centers for Disease Control classifications of P1 or P2. Among these infected children IgA HIV antibodies were present in all 23 samples from those older than 12 months, in 12 of 18 samples from babies aged 6-12 months, in 5 of 10 samples from babies aged 3-5 months, and in 2 of 13 from babies under 3 months old. The 6 IgA-negative samples from infants over 6 months were all from infants with severe AIDS and/or hypogammaglobulinaemia. IgA HIV antibodies were present in twice as many samples as IgM HIV antibodies (66% vs 33%). No IgM or IgA HIV antibodies were detected in infants who subsequently seroreverted or in infants born to seronegative mothers. The correlation of the serological results with clinical information on each child suggests that detection of IgA HIV antibodies is an effective method for early diagnosis of HIV-infected infants without signs of infection.
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PMID:Early diagnosis of HIV infection in infants by detection of IgA HIV antibodies. 197 Jan 6

A case of polyarteritis nodosa (PN) in childhood involving various organs such as the gastrointestinal tract, skin, CNS, kidneys and liver with hypogammaglobulinemia is reported. This 6 month old girl was admitted to our hospital with vomiting, diarrhea, bloody stools with mucous and weight loss. For the past 5 months she had these abdominal symptoms. She was diagnosed as having PN of the Kussmaul-Maier variety on the grounds of the biopsy of skin lesion where a necrotizing vasculitis was found. Prednisolone and methylprednisolone pulse treatment were not effective in suppressing the progress of the disease. At the age of 1 year 7 month a combination therapy of prednisolone and immunosuppressants (cyclophosphamide) was started and this was found to be effective. She was discharged when she was 2 year and 2 month. The dosage of prednisolone was tapered as the activity of the PN decreased and she did well with a maintainance dosage of 9.5 mg/day. At 3 year 6 month of age she suddenly developed hypertension (the plasma renin activity was found to be 16.6 ng/m/hr. and the aldosterone 220 ng/dl). CNS involvement such as spinal cord dysfunction, left sided convulsions, cerebral hemorrhage developed 5 months later. Methylprednisolone pulse therapy was performed 3 times and 2 mg/kg/day of prednisolone was administered. In spite of this therapy she passed away with a massive cerebral hemorrhage at the age of 4 year 8 month. Unfortunately an autopsy was not performed. Results of the immunological tests proved that the hypogammaglobulinemia was a common variable immunodeficiency (CVI). It has been reported that primary immuno-deficiency syndrome is often associated with collagen disease and auto-immune disease. This lack of the defense mechanism against the virus or extra antigen could be related to the onset of collagen and auto-immune disease. As the correlation between CVI and PN has not been clarified this case is of interest as concerns the cause of PN.
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PMID:[A case of hypogammaglobulinemia associated with polyarteritis nodosa presenting a variety of symptoms in childhood]. 197 16


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