Familial Agammaglobulinaemia

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Vaccinia gangrenosa and agammaglobulinaemia.

Normally, primary vaccination against smallpox produces a vesicle on an inflamed base in four days, enlarging for a further five days with umbilication, and healing under a scab in about three weeks. Pyogenic infection of the primary lesion is the most common complication of vaccinia. Secondary vaccinal lesions may occur as the result of autoinoculation of adjacent or distant areas of skin. The...

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Pneumocystis pneumonia associated with agammaglobulinaemia.

C.O., a female infant, had a birth weight of 6 lb. (2,720 g.). The parents were English and had one other normal child. She was admitted to hospital at the age of 3 days because of abdominal distension and vomiting. This settled without specific treatment. She went home but was readmitted two weeks later with similar symptoms together with loose stools. Intravenous fluids were required and E. c...

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X linked agammaglobulinaemia with a 'leaky' phenotype.

Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Dem...

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X linked agammaglobulinaemia and rheumatoid arthritis.

BACKGROUND Much interest has been shown recently in the pathogenic role of B cells in rheumatoid arthritis (RA) owing to the marked clinical responses to anti-CD20 treatment in RA. CASE REPORT A patient with X linked agammaglobulinaemia (XLA) presented with an erosive symmetric polyarthritis with histological features of RA, including formation of a destructive pannus. Furthermore, the patien...

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Neutropenia associated with X-linked agammaglobulinaemia.

In a series of six cases of sex-linked agammaglobulinaemia neutropenia occurred as a presenting feature in four and during the presenting illness in the other two. The six patients all had low antibody titres and absent or low immunoglobulin concentrations with normal concentrations of T cells and absent B cells. The patients were all first seen with severe, acute infection, including septic ab...

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ژورنال

عنوان ژورنال: BMJ

سال: 1956

ISSN: 0959-8138,1468-5833

DOI: 10.1136/bmj.2.4988.336