Reference | Title | 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 results |
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 results |
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. |