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Case report on activated PI3K-delta syndrome
Israel E Crisanto-López1, Alan A Pérez-Arzola1, Yazmin Hernández-Castañeda1
1Departamento de Genética Médica, Hospital General de Zona N° 20.
Boletin Medico Del Hospital Infantil De Mexico
|September 5, 2024
Summary
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder. Early diagnosis through clinical suspicion and genetic testing is crucial for timely treatment and preventing complications.
Area of Science:
- Immunology
- Genetics
Background:
- Activated phosphoinositide 3-kinase delta syndrome (APDS) is an autosomal dominant inborn error of immunity.
- Caused by PIK3CD gene variants, APDS presents with recurrent infections, lymphoproliferation, and increased risk of neoplasms.
Observation:
- A 17-year-old female experienced recurrent sinopulmonary infections, bronchiectasis, and persistent immune abnormalities including leukopenia, lymphopenia, and elevated IgM.
- Genetic analysis revealed a heterozygous pathogenic PIK3CD variant, confirming APDS diagnosis.
Findings:
- The patient's presentation and genetic findings were consistent with APDS.
- Treatment with immunoglobulin replacement and prophylactic antibiotics improved infectious control.
Implications:
- This case highlights the importance of high clinical suspicion for diagnosing APDS.
- Timely diagnosis and treatment are essential for managing APDS and preventing severe complications.
Keywords:
Activated phosphoinositide 3-kinase δCase reportErrores innatos de la inmunidadGain of function mutationInborn errors of immunityInmunodeficiencia primariaMutación de ganancia de funciónPrimary immunodeficiency diseaseReporte de casoSíndrome de la fosfoinositida 3-cinasa delta activadosyndromeMore Related Videos
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