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Published on: September 18, 2016
Gastrointestinal manifestations in children with primary immune deficiencies: A case series
Meena Sivasankaran1, Venkateswari Ramesh2, Srinivas Sankaranarayanan3
1Department of Pediatric Hemato-Oncology, Blood and Marrow Transplantation, Kanchi Kamakoti CHILDs Trust Hospital, 12A Nageswara Road, Numgambakkam, Chennai, 600 034, India. meenasankaran04@gmail.com.
Insights
Gastrointestinal issues are common in primary immune deficiencies (PIDs). Early genetic diagnosis and treatment like stem cell transplant are crucial for affected children, especially when non-infectious GI symptoms are prominent.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Genetics
Background:
- Gastrointestinal (GI) manifestations are common in primary immune deficiencies (PIDs), second only to pulmonary disease.
- Non-infectious GI disorders (allergic, autoimmune, inflammatory) can be the primary presentation of PIDs.
- Up to 50% of children with PIDs experience GI complications.
Purpose of the Study:
- To highlight the presentation and diagnosis of PIDs in children with predominant non-infectious GI manifestations.
- To emphasize the importance of early identification and intervention for these complex cases.
Main Methods:
- Case series of five children with predominantly non-infectious GI symptoms suggestive of PIDs.
- Clinical evaluation including age of onset, family history (consanguinity), and response to dietary interventions.
- Next-generation sequencing for genetic diagnosis.
Main Results:
- Five pediatric cases presented with significant non-infectious GI manifestations of PIDs.
- Key indicators for suspicion included early infantile onset, parental consanguinity, and lack of response to hypoallergenic formulas.
- Next-generation sequencing successfully identified the underlying genetic causes.
Conclusions:
- Primary immune deficiencies should be considered in infants with unexplained, severe non-infectious GI disorders.
- Early genetic diagnosis is essential for timely and potentially life-saving interventions, such as hematopoietic stem cell transplantation.
Abstract:
Gastrointestinal (GI) manifestations are the second most common complications of primary immune deficiencies (PIDs) after pulmonary disease, affecting up to one-half of children with PIDs. Non-infectious GI manifestations such as allergic, autoimmune, and inflammatory disorders can be the predominant manifestations of PIDs. We present a series of five children who presented predominantly with these GI manifestations of PID, not attributable to infections. Very early age of onset (infancy), parental consanguinity, and failure to respond to hypoallergenic formula led to strong suspicion for underlying PIDs. Next-generation sequencing led to the underlying genetic diagnosis. Early diagnosis and hematopoietic stem cell transplantation could be life-saving in these children.
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