Severe combined immunodeficiency : king hussein medical center experience

الملخص EN

Objective: To describe the clinical experience of a single center in severe combined Immunodeficiency. Methods: A total of 14 patients who were admitted to the Pediatric Department at King Hussein Medical Center with a probable diagnosis of severe combined immunodeficiency over 6 years duration were studied.

The study described patients' population, clinical presentations, family history, laboratory and radiological investigations, treatment options and prognosis. Results: Twelve (86 %) patients were males and two (14 %) were females.

Median age at presentation was 21 weeks.

They all showed the same clinical presentation with few exceptions.

We demonstrated maternofetal engraftment in two (14 %) patients.

Unusual post vaccination poliomyelitis type II was demonstrated in one patient.

Skin abscess and deep-seated ulcers were seen in one patient.

One patient with Viral Associated Hemophagocytosis Syndrome Dead siblings with similar illness were retrieved in most patients.

All patients had anemia, lymphopenia, and severe pan-hypogammaglobulinemia at time of presentation.

We confirmed neutropenia in only three (21%) patients.

Blood cultures revealed heavy growth of Klebsiella and Pseudomonas organisms in nine (64%) patients.

We found that intravenous immunoglobulins administration was partially useful.

Bone marrow transplant was not done for any patient.

One patient was under preparation for autologous bone marrow transplantation.

Eleven patients died after a mean of four months after diagnosis.

Two patients were in a relatively acceptable condition, and that last one was suffering from fulminant sepsis. Conclusion: The awareness of the referring physicians to immunodeficiency is sub optimal.

Pediatricians are urged to pay attention to persistent Lymphopenia as a helpful clue for the diagnosis of severe combined Immunodeficiency in infants with unusual infections especially in families with positive family history.

Live attenuated viral or bacterial immunization is contraindicated in suspected immunodeficiency.

Health education of families is an essential part of management of these patients.