Foreword to the English Translation of Kostmann’s Memoirs

Excerpt

The descriptions of boys with X-linked recessive agammaglobulinemia by Ogden Bruton in 1952 [1, 2], and David Gitlin, Charles Janeway and their colleagues in 1953 [3‐5] have long been held to constitute the birth of “primary immunodeficiencies.” Multiple sources have attested to this, including both reviews and textbook chapters and the first official international classifications of these conditions [6‐8]. However, the discovery of autosomal recessive agranulocytosis dates back even further, and was reported by Rolf Kostmann in 1950 in Svenska Läkartidningen [9‐11]. Both disorders were characterized by the Mendelian inheritance of two causally related phenotypes, a rare immunological phenotype responsible for a severe infectious phenotype. Coincidentally, Bruton and Kostmann were both pediatricians working for the military, Bruton in the USA and Kostmann in Sweden. The publication of Kostmann’s paper in Swedish is unlikely to account for neutropenia not being recognized as the first foundation in this field. Indeed, a more thorough report, citing the seminal paper from 1950, was published in 1956, in English, in Acta Paediatrica Scandinavica, a journal in which Kostmann also published a review in 1975 [10, 11]. Moreover, the 1956 paper had already been quoted 186 times in the medical literature by 1969, when the 1970 classification of primary immunodeficiencies was drafted. …