Table 3.

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

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

*NIH score–National Institutes of Health score [23].