![]() The most common presentations were persistent diarrhea, candidiasis, lung infections, fever, and opportunistic infections. All patients showed growth impairment by 3 months of age. ![]() The average age at first hospitalization was 93 days, and at diagnosis, 141 days. (1993) reported 36 patients with T-, B- SCID among 117 patients with SCID. The 3 probands died of pneumonia in the first 3 years of life. (1967) reported 3 families in which multiple sibs had congenital hypogammaglobulinemia that defied classification. (1967) reported that 'thymic alymphoplasia,' now known as thymic dysplasia ( Nezelof, 1992), was frequent among Mennonites living in southern Manitoba. Furthermore, the thymus, which was usually normal in Bruton agammaglobulinemia, was very small with absence of lymphoid cells and Hassall corpuscles. In contrast to X-linked Bruton agammaglobulinemia, patients were unusually susceptible to fungal and viral as well as pyogenic pathogens, lacked delayed hypersensitivity, and showed failure of antibody production. Good (1964) referred to the recessive form of agammaglobulinemia as the Swiss type. The findings were consistent with 'thymic dysplasia' ( Nezelof, 1992). Affected patients had a small thymus with depletion of lymphoid cells, suggesting a failure or arrest in embryologic development of the gland. Tobler and Cottier (1958) reported families with agammaglobulinemia and lymphopenia showing autosomal recessive inheritance. ![]() Nezelof (1992) noted that 'Swiss-type agammaglobulinemia' is a historic term referring to severe combined immunodeficiency as a disorder with both agammaglobulinemia and T-cell lymphopenia, and does not represent a single disease entity. At that time, the disorder was termed 'Swiss-type agammaglobulinemia' to distinguish it from the less severe Bruton agammaglobulinemia ( 300755) in which T lymphocytes are unaffected. (1968) reported a form of congenital immunodeficiency with agammaglobulinemia and absence or decreased numbers of lymphocytes. Hitzig and Willi (1961), Hitzig (1968), and Hitzig et al. Glanzmann and Riniker (1950) reported 2 pairs of sibs who had severe infections, candidiasis, agammaglobulinemia, and lymphopenia. Early Descriptions of Autosomal Recessive SCID
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