1/109. Selective antibody deficiency to bacterial polysaccharide antigens in patients with netherton syndrome. Three patients with netherton syndrome, recurrent sinopulmonary infections, and humoral immune deficiency are described. Although quantitative serum immunoglobulin levels were generally normal, two patients had selective antibody deficiency to bacterial polysaccharide antigens, one associated with IgA-IgG-2 deficiency. A third patient had an antibody deficiency to protein antigens. This is the first report, to our knowledge, that describes antibody deficiency in patients with netherton syndrome. This finding demonstrates the importance of evaluating functional antibody responses to both protein and bacterial polysaccharide antigens and not relying on IgG subclass determination. ( info) |
| A 4-year-old Japanese boy with rothmund-thomson syndrome suffered from severe herpes encephalitis at 5 months of age. The serum level of immunoglobulin g was low and the responsiveness of peripheral blood mononuclear cells to bacterial superantigens was poor. It was suggested that these immunological abnormalities, possibly associated with rothmund-thomson syndrome, led to severe infection with herpes simplex virus in our patient. ( info) |
| FIRST REPORT: male child with repeated pulmonary infections from the age of 4 months. He was diagnosed as iga deficiency (undetectable IgA levels) at the age of 3 years, when he presented repeated bouts of pneumonia and tonsillitis. Several immunologic evaluations were made between the ages of 4 months and 8 years. At 8 years and 9 months, the diagnosis of iga deficiency was confirmed, and associated IgG2 and IgG4 deficiency (29.0 mg/dl y 0.01 mg/dl) with normal total IgG serum level was found. With the administration of intravenous gammaglobulin, the lung infections remitted and the subsequent clinical course has been uneventful up to now. SECOND REPORT: a boy with repeated infections since the age of 2 months. iga deficiency was diagnosed at 1 year 7 months (undetectable serum IgA levels). At age 51/2 years, his clinical course worsened and more serious infections appeared. A new immunologic study revealed iga deficiency associated with CD4 cell deficiency (432 cells/mm3) and normal CD3, CD19, and CD8 levels. Despite intensive antibiotic treatment and care, the child died. The findings suggest an association of iga deficiency and common variable immunodeficiency. ( info) |
| An IgG subclass deficiency is often associated with bacterial infections. We studied four pediatric patients suffering from meningoencephalitis, two of them due to streptococcus pneumoniae and two due to haemophilus influenzae type b. Simultaneous diagnostic serum and cerebrospinal fluid samples were taken during income. The four subclasses of IgG and albumin were quantified in both biologic fluids by radial immunodiffusion. Very low levels of seric IgG2 with non detectable cerebrospinal fluid IgG2 were found in the patients. No intrathecal IgG subclass synthesis was found in two patients. One patient with S. pneumoniae had IgG3 intrathecal synthesis. Intrathecal IgG1, IgG3 and IgG4 synthesis was found in one patient suffering from H. influenzae according with reibergrams. Substitutive therapy with intravenous gammaglobulin was given to the patients as part of the treatment. ( info) |
5/109. Recurrent sepsis and seronegative arthritis in a patient with a selective IgG3 deficiency. In a sixty-one-year-old patient with chronic polyarthritis, two life-threatening septic events were observed over a period of 6 months. The patient also had a selective IgG3 deficiency. The susceptibility to infection and chronic polyarthritis observed in this patient were very likely a consequence of the selective IgG3 deficiency. ( info) |
6/109. Generalized seborrheic dermatitis in an immunodeficient newborn. We report the case of a female infant with failure to thrive, generalized seborrheic dermatitis, and intermittent diarrhea. Results of laboratory investigation revealed low serum immunoglobulin g IgG levels. She failed to gain additional weight and experienced recurrent infection. She died 3 months later. ( info) |
7/109. Immunologic compensation in a patient with a large IgH constant region deletion. BACKGROUND: Deficiencies of serum Ig of the IgG isotype typically predispose individuals to recurrent infections in some but not all cases. patients with large deletions of the Ig heavy chain genes are free of recurrent and severe infections. OBJECTIVE: We sought to determine a mechanism of immunologic compensation that would possibly explain the reason for this patient's paucity of infection despite lacking several classes of serum Ig. methods: The patient is a 50-year-old white man. serum Ig levels and specific antibody titers were measured by using various methods, including nephelometry, enzyme immunoassay, and radial immunodiffusion. The status of the Ig heavy chain genes was examined by means of Southern blotting of genomic dna isolated from EBV-transformed B cells. RESULTS: The patient's serum lacked detectable IgG1, IgG2, IgG4, and IgA1 levels. Southern blot analysis demonstrated a large heavy chain constant (C) region gene deletion that included Cgamma1, Calpha1, psiCgamma, Cgamma2, and Cgamma4. Antibody responses to capsular pneumococcal and hemophilus polysaccharide antigens were essentially absent. However, IgG3 antibodies against the protein antigen tetanus toxoid were present. Relatively high antibody titers were found against pneumococcal surface proteins as well. CONCLUSION: We conclude that our patient's relative freedom from serious infection may be as a result of production of IgG3 antibodies to pneumococcal capsular proteins. ( info) |
8/109. Spontaneous resolution of profound hypogammaglobulinemia. A 3-month-old, full-term female infant was hospitalized with pneumonia and bronchiolitis. Laboratory studies revealed a profoundly low level of IgG (41 mg/dL) and low level of IgA (< 6.67 mg/dL). Other causes of immunodeficiency were ruled out, and there was no evidence of protein loss to account for the low immunoglobulin levels. The immunoglobulin levels normalized over time. Our patient had a transient hypogammaglobulinemia of infancy, with severely low IgG and low IgA levels. We found no other reports of cases with such low values of IgG that proved to be transient. ( info) |
9/109. The progressive appearance of multiple urinary Bence-Jones proteins and serum paraproteins in a child with immune deficiency. Multiple urinary Bence-Jones proteins and serum paraproteins were found in a child with type I dysgammaglobulinaemia (Seligmann et al., 1968). These showed a continually evolving pattern over a period of 4 months in relation to systemic infections and with no evidence of underlying malignancy. ( info) |
| We report on a 31-year-old female patient with systemic lupus erythematosus (SLE) for 24 years who had a past history of skin tuberculosis (lupus vulgaris), long-term corticosteroid therapy, and igg deficiency. She presented with monoarthritis and concomitant meningitis from skin tuberculosis after 5 years. The diagnosis of joint and meningeal tuberculosis was defined with clinical symptoms--signs and typical histopathological findings of involved synovium. Clinical improvement was achieved with antituberculous therapy. Cutaneous, articular, and cerebral manifestations of tuberculosis might have been confused with some of the lupus manifestations or lupus activation. It should be kept in mind that tuberculosis may be encountered in SLE due to the nature of the underlying disease and/or its therapy. It is also worth mentioning that, in this patient, tissues involved with extrapulmonary tuberculosis were the primary areas of involvement with SLE. ( info) |