ImmunoDeficiency Resource (IDR)

Patients have congestive heart failure, symptomatic before one year of age, neutropenia (chronic, cyclic, or intermittent), muscle hypoplasia and weakness, failure to thrive and growth retardation, 3-methyl-glutaconic aciduria, cardiolipin deficiency. The consequences of neutropenia may be severe (septicemia in newborns) or less dramatic with bacterial skin infections and oral aphtous lesions. Other important clinical problems are frequent diarrhea, recurrent aphtous ulcers, hypoglicemia, osteoporosis, chronic headache and body aches, especially during puberty, extreme fatigue, feeding problems, mild learning disabilities, high incidence of minor congenital malformations.