Poster Display Diagnostics

A NEW MUTATION OF GEN IL-2RG IN A MEXICAN PATIENT WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY

Lecture Time
10:08 - 10:09
Presenter
  • Sandra I. CortĂ©s, Mexico
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
29
Presentation Topic
Diagnostics

Abstract

Background and Aims

Male 8 months of age, consaguineous parents, two brothers died at an early age, one brother stillborn and two maternal uncles died before 10 months due to infectious diseases. Healthy brother of 15 years. Product of fifth pregnancy without perinatal complications, birth weight 3325 grams, size 51cms. Without immunizations. By family history at month of age, subpopulations of lymphocytes and immunoglobulins are requested. Rx with absence of thymic silhouette. No positive data on physical examination. Receives prophylactic treatment and IgGIV. With a clinical evolution of a single episode of diarrhea at 3 months of age resolved in 24 hours. Growth and development appropriate for age (p50). Without infectious diseases.

To present a case of a new mutation of gen IL-2RG in a Mexican patient with X- Linked severe combined immunodeficiency

Methods

Evaluation family history of patient was a fundamental tool for the suspicion of an immunodeficiency.

Results

mutation 1.png

The mutation IL2RG NM_000206 c.667G> T, p.V223F was reported

Conclusions

The use of the family history of the patient was a fundamental tool for the suspicion of an immunodeficiency, the prenatal diagnosis of mutations of men at risk and the subsequent genetic counseling of the parents are essential for an opportune treatment.

The patient was not a candidate at (HSCT) and at 6 months of age he was sent to St. Jude Hospital to correct the genetic defect with genetic therapy. Systemic adenovirus infection was diagnosed and died at 8 months of age, with only one dose of gene therapy administered.

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