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

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 4^th 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