| Title | Claps | Level | Year | L/Y |
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X‐Linked Agammaglobulinemia and Other Immunoglobulin Deficiencies
8 auth. C. I. Smith, K. Islam, I. Vořechovský, O. Olerup, Erik Wallin, H. Rabbani, ...
Lack of immunoglobulins in a patient was described as early as 1952 by the American physician. Dr. Ogden C. Bruton (Bruton 1952). This was the ftrst immunodeficiency to be identified in any species and was later called X-linked agammaglobulinemia (X…
Lack of immunoglobulins in a patient was described as early as 1952 by the American physician. Dr. Ogden C. Bruton (Bruton 1952). This was the ftrst immunodeficiency to be identified in any species and was later called X-linked agammaglobulinemia (XLA) or Bruton's agammaglobulinemia (MIM 30030). In 1952 lymphocyte differentiation was poorly understood and it was almost two decades before the defect was identified as a lack of B lymphocytes (Siegal et al. 1971, Cooper et al. 1971, Preud'Homme etal. 1973, Conley 1985, Campana et al. 1990). Fig. 1 is a schematic representation of B-lymphocyte differentiation and depicts the differentiation block/growth arrest seen in XLA. The first stages of B-cell progenitors have, as yet, not been identified, and the earliest lymphoid cells committed to becoming B cells are normally referred to as pro-B cells. These cells have not rearranged any immunoglobulin (Ig) genes, and the molecular nature of their commitment is not understood. Pre-B cells rearrange their Ig variable (V, D and J) segments and form complete regulatory mechanisms that involve transcription factors, signalling proteins, growth factors, apoptotic molecules, and surrogate Ig chains (for review see Kincade et al. 1989, Rolink & Melchers 1991, Banchereau & Rousset 1992). Following antigenic stimulation lymphocytes may undergo isotype switching, i.e. changing their isotype from IgM to a 'downstream' isotype. This event is
Published in
Immunological Reviews
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9
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6 | 1994 |
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