Infections & Immune Status

Follow up results

Carter MT et al. [3]

Phenotypic delineation of Emanuel syndrome

(supernumerary derivative 22 syndrome):

Clinical features of 63 individuals.

Recurrent ear infections were seen in 96%; 19% had low immunoglobulins and 9% were treated with IVIG which had reported benefit.

no conclusions can be drawn about the use of IVIG.

Emanuel BS et al. [4]

Abnormal chromosome 22 and recurrence of

trisomy-22 syndrome.

Recurrent pneumonia developed in nearly 47% of affected patients.

No mention about


Kapoor S [6]

Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome.

Cryptorchidism was seen in 46% of ES patients while recurrent urinary tract infections were seen in 18% of affected individuals.

No mention about


Tovo et al. [7]

Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22.

Decreased immunoglobulin levels were found in affected patients.

Thymostimulin increased

IgG levels.

Our case

Efficacy of intravenous immunoglobulin in a case of Emanuel syndrome

The level of IgG was below the normal range for his age and recurrent seizures occurred.

Decreased the frequency of infections and seizures after IVIG therapy.