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GENATLAS PHENOTYPE
last update : 12-09-2017
Symbol ADMIO2
Location 2q11.2
Name Autoimmune disease, multisystem, infantile-onset, 2
Corresponding gene ZAP70
Main clinical features
  • onset of a systemic autoimmune disorder in the first months of life, blistering skin disease, nephrotic syndrome, autoimmune hypothyroidism, bullous pemphigoid, colitis
  • autoimmune disease became refractory to high-dose steroids and multiple immunosuppressive regimens
  • immunologic workup showed mild T and B cell lymphopenia and reduced numbers of CD8+ T cells
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)