Immune Deficiency and Metabolic Disorders
Overview
At our center, we treat multiple pediatric immune deficiencies and metabolic disorders through allogenic bone marrow transplantation (BMT), which has proven to be an established treatment modality for some of those diseases. Our comprehensive approach ensures that each patient receives personalized care tailored to their specific needs.
Severe Combined Immunodeficiency (SCID)
Presentation
- Recurrent infections starting in infancy, especially viral, fungal, or infections by unusual bacteria.
- Poor growth or weight gain.
- Persistent diarrhea, pneumonia, or unusual infections.
Diagnosis
- Newborn Screening
- Lymphocyte Analysis: Showing low or absent T cells and impaired immune responses.
- Genetic tests.
Treatment options
- Bone marrow transplant (BMT): The most effective treatment, providing a new immune system.
- Gene therapy.
- Enzyme replacement therapy for specific types of SCID.
- Preventive antibiotics to reduce infection risk.
Phagocyte Disorders
Phagocyte disorders are disorders where specific white blood cells (like neutrophils and macrophages) are unable to fight infections effectively. These cells are essential for engulfing and killing harmful bacteria, fungi, and other pathogens. When they don’t work properly, patients are more prone to specific types of infections.
Presentation
- Recurrent and severe infections, especially with bacteria like Staphylococcus aureus and fungi like Aspergillus.
- Infections involve the lungs (pneumonia), skin (abscesses), liver, and lymph nodes.
- Delayed separation of the umbilical cord in newborns.
- Severe infections (e.g., skin, bowel) with poor pus formation.
- Slow wound healing, often leaving thin, “cigarette paper-like” scars.
Common disorders
- Chronic Granulomatous Disease (CGD).
- Chediak-Higashi Syndrome.
- Hyper-IgE Syndrome
Diagnosis
- Functional Assays: Tests to measure the ability of phagocytes to produce reactive oxygen
- species or respond to infections.
- Genetic Testing: Identifies specific genetic mutations associated with the disorders.
Treatment options
- Preventive antibiotics to reduce infection risk.
- Bone marrow transplant (BMT) is potentially curative for some disorders like CGD.
- Immunotherapy.
The Journey of Healing Starts Here
We performed a presymptomatic haploidentical bone marrow transplant for a patient with adrenoleukodystrophy (ALD) using a partially matched family donor. Years later, the patient remains stable and thriving—showcasing the power of early intervention in ALD
Adrenoleukodystrophy (Metabolic disease)
Adrenoleukodystrophy (ALD) is a rare genetic disorder that primarily affects the nervous system and adrenal glands.
Neurological symptoms
- Memory issues and learning disabilities
- Behavioral changes
- Vision and hearing problems
- Difficulty with coordination and balance
- Seizures
Adrenal insufficiency symptoms
- Fatigue
- Nausea and vomiting
- Weight loss and low appetite
- Darkening of the skin
Diagnostic tests
- Blood Tests: Measure levels of very long-chain fatty acids (VLCFAs) in the blood.
- Genetic Testing: Identifies mutations in the ABCD1 gene.
- Magnetic Resonance Imaging (MRI): Detects abnormalities in the brain, including damage to white matter.
- Adrenal Function Tests: Assess adrenal gland performance.
Treatment options
- Bone marrow transplant (BMT) can slow or halt progression if done early, particularly in children.
- Adrenal insufficiency treatment.
- Supportive care like physical therapy and medications to manage symptoms.
Prognosis
While there is currently no cure for ALD, early diagnosis and intervention can significantly improve outcomes for affected individuals.