Infantile X-linked agammaglobulinemia in Japan

Abstract

Five hundreds and eighty four patients reported to the Registry of Primary Immunodeficiency Diseases of Japan included sixty two cases diagnosed as infantile X-linked agammaglobulinemia. Summarizing the reported data on these patients such informations as family history, the initial symptom and the age of onset, age at the time of diagnosis and the report, major clinical features particularly infections, major laboratory findings and prognosis were presented and discussed.
Because the reported data were not sufficient enough to establish certain diagnosis in some patients, we tried to make a criteria to evaluate the possibility of the diagnosis, which was consisted of family history and major laboratory findings.
Judging from this criteria the reported sixty two patients were classified as follows;
Group A (Certain) 8 cases (12.9%)
Group B (Probable) 16 cases (25.8%)
Group C (Possible) 20 cases (32.3%)
Group D (Doubtful or Pending) 18 cases (29.0%)
Group A and B, in total 24 cases (38.7% of all), seemed to be appropriate to be diagnosed as infantile X-linked agammaglobulinemia.