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Table 1 Clinical data

From: Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

Origin Pakistan
Sex Female
Age at last evaluation 3 years
Age at onset of symptoms 3 weeks
Anemia + (recurrent transfusions)
Abscesses/skin infections + (Multiple)
Bronchiectasis
Eczema/dermatitis + (Severe)
Otitis media
GI problems/food allergy + (Severe)
Pneumonia + (Multiple)
Encephalitis
Recurrent Staph A infections + (from 1 month of age)
Candida infections + (from 2 months of age)
Severe viral infections + (CMV)
Autoimmunity + (TSH receptor and TPO autoantibodiesa)
Skeletal dysplasia
Scoliosis
Dysmorphic facial features
Developmental delay
Psychomotor retardation
Failure to thrive + (length -5SD below the mean, weight − 6 SD below the mean)
Hematopoietic stem cell transplantation
Splenomegaly
Vascular abnormalities + (hypoplasia/occlusion of superior vena cava)
  1. aTSH Thyroid stimulating hormone, TPO Thyroperoxidase