severe combined immunodeficiency 104

A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.

Signs and symptoms

• Decreased total T cell count
• Gastroesophageal reflux
• Recurrent mucocutaneous candidiasis
• Recurrent otitis media
• Diarrhea
• Oral ulcer
• Severe combined immunodeficiency
• Hepatomegaly
• Pneumonia
• Recurrent opportunistic infections

Also known as: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID; interleukin-7 receptor alpha deficiency; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive