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Table 3 Clinical features of Autosomal dominant hyper IgE syndrome, Ataxia telangiectasia, Di George syndrome

From: Spectrum of primary immunodeficiency disorders in Sri Lanka

Disease Patient age and sex Clinical features
Hyper IgE syndrome 15 years, male New born rash, seborrheic dermatitis from 3 months, recurrent lower respiratory infections (> 6), pneumonia (X3), pneumatoceles, oral thrush, recurrent skin abscesses, typical facies, nasal width, fractures (left and right radius and ulna), Eosinophilia (> 800 / μl), IgE > 2000 IUml NIH Score 63*
  9 years, female New born rash, dermatitis, recurrent skin abscesses (< 4), pneumonia (1 episode), pneumatocele, retained primary teeth, hyperextensibility of joints, recurrent upper respiratory infections, eosinophilia > 800 / μl, IgE > 2000 IU/ml NIH Score 41*
Ataxia telangiectasia 9 years, female Recurrent respiratory infections from 2 1/2 years, squint and bilateral ocular telangiectasia, ataxia
Bronchiectasis
No consanguinity
Alpha feto protein 111.4 ng/ml (< 8 ng/ml)
Reduced IgA
CT Brain – prominent lateral and 4th ventricle, no cerebellar atrophy
3 years, female Ataxia at 3 years, torticollis, ocular telangiectasia, sister diagnosed with ataxia telangiectasia
IgG, IgA reduced, increased IgM
1 ½ years, female Unsteady gait
Elder sister died at 11 years with ataxia telangiectasia
Ocular, ear lobe telangiectasia
Ataxia +
IgA reduced
Alpha feto protein 48.6 ng/ml (< 8 ng/ml)
8 years, male Ataxia, intention tremor
Ocular telangiectasia
Recurrent respiratory tract infection
IgA reduced
Alpha feto protein 156 ng/ml (< 8 ng/ml)
5 years, female Walking milestones delayed, ataxia after 1 ½ years, bulbar telangiectasia, oculomotor apraxia, dyskinesia, dystonia
Immunoglobulin levels normal
Alpha feto protein 217.9 ng/ml (< 8 ng/ml)
4 ½ years, male Imbalance while walking, inability to keep posture at 1 ½ years, with progressive worsening
2 attacks of lower respiratory infection
Ocular telangiectasia. Ataxia
IgA reduced
Alpha feto protein 144.52 ng/ml (<8 ng/ml)
DiGeorge Syndrome 10 month, male Recurrent respiratory tract infection from 3 months
Hypocalcemia (no fits)
Dysmorphic facies(micrognathia,low set ears, thin upper lip, prominent philtrum, prominent forehead, high arched palate.
Absent thymus (chest xray, ultra sound scan)
2 D Echo–normal heart
Serum immunoglobulins, lymphocyte subsets normal
3 years, female Recurrent respiratory infections, dysmorphic facies (micrognathia, prominent philtrum, low set ears)
Hypocalcemia = serum Ca++ 1.14 mmol/l(2.15-2.55)(no fits)
2D Echo = Tetralogy of Fallots, right sided aortic arch
Serum immunoglobulins = IgG and IgA low, IgM normal
Lymphocyte subsets and function normal
  1. *NIH score–National Institutes of Health score [23].