Agammaglobulinaemia associated with the occurrence of a monoclonal immunoglobulin.

A patient is described with a monoclonal immunoglobulin of the IgG class in the serum and no detectable IgM and IgA. Extensive immunological investigations showed the absence of B-lymphocytes in bone marrow and peripheral blood. Moreover, plasma cells were not present in the bone marrow. The monoclonal IgG was synthesized in the gastrointestinal tract. The cellular immune-status of the patient was synthesized in the gastrointestinal tract. The cellular immune-status of the patient was normal. Clinically the patient suffered from gastrointestinal and severe respiratory tract infections. It was concluded that the findings are consistent with the diagnosis congenital agammaglobulinaemia with concurrence of monoclonal IgG. It was postulated that the cell clone in the gastrointestinal tract resulted from an escape of a pre-B cell clone from the recongized arrest of pre-B cells in congenital agammaglobulinaemia.

Congenital ichthyosis: concurrent immunodeficiency and atypical T cells.

A patient with congenital ichthyosis and progressive neurologic anomalies showed disturbances in the specific humoral and cellular defense as well as the presence of atypical lymphoid cells in skin and lymph node. The latter resembled the atypical T cells found in mycosis fungoides and Sézary syndrome. The possibility of the presence of either a cutaneous T cell lymphoma or unregulated T cell stimulation leading to concurrent immunodeficiency in this patient is discussed.

Normal lipid composition of fibroblasts from a case of type II achondrogenesis.

Fibroblasts from a case of achondrogenesis type II and fibroblasts from a normal control donor were subcultivated in vitro in parallel. The lipid study on these cells showed similar total lipid content, free cholesterol level, phospholipid distribution and fatty acid patterns, while neutral glycerides were slightly more elevated in the control fibroblasts. The histological finding of Laxova et al. (1973) could not be confirmed.

Dermatomyositis and toxoplasmosis.

In a patient with childhood dermatomyositis, high toxoplasma antibodies were found at the time of diagnosis. A direct immunofluorescence technique demonstrated active toxoplasmosis in the muscle biopsy. The response to treatment and follow-up in this patient suggest that toxoplasmosis could have caused the dermatomyositis.

Phagocytic and chemotactic function of polymorphonuclear and mononuclear leucocytes in patients with recurrent staphylococcal infections.

From 21 patients with chronic or recurrent staphylococcal infections, phagocytosis and intracellular killing of Staphylococcus aureus by polymorphonuclear (PMN) and mononuclear (MN) leucocytes were evaluated. Also chemotactic responsiveness and the capacity of their sera to opsonize Staph. aureus was tested. The chemotactic, phagocytic and bactericidal capacity of PMN's and MN's from patients was significantly decreased. The mean uptake of Staph. aureus by patient PMN's and MN's was 65% and 44%, respectively, as compared to 85% and 75% observed with PMN's and MN's from 38 healthy donors. The phagocytic activity of 17/21 patients (81%) was below the normal range. A decreased chemotactic mobility and bactericidal capacity of patient leukocytes was also found and was always accompanied by a decreased rate of ingestion. Although a great variability was noted in the phagocytic capacity of leucocytes from patients tested repeatedly over periods up to 82 weeks, the mean value for phagocytosis remained below the normal range in 10/11 patients included in the follow-up study. Except for 1 patient with dysgammaglobulinemia, sera from the patients contained normal amounts of immunoglobulins and complement (CH50 and C3), and they all effectively opsonized Staph. aureus. The results indicate that defects in leucocyte function may be frequently involved in the pathogenesis of recurrent Staph. aureus infections.

Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.

We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell immunity developed. This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency. Adenosine deaminase activity was present in erythrocytes and lymphocytes of the patient, parents and a healthy brother. Purine nucleoside phosphorylase activity was not found in the patient's erythrocytes and lymphocytes (the parents and brother had intermediate values, indicating that the enzyme deficiency too was inherited as an autosomal recessive trait). Analysis of serum and urine from the patient and of serum from her two deceased sisters showed high levels of inosine and guanosine in addition to hypouricemia and hypouricosuria. The bone marrow was megaloblastic, and the blood hypochromic microcytic. The patient had spastic tetraparesis. Intoxication of the T lymphocytes after birth by metabolic products may explain the progressive cellular immunodeficiency.