The Immunohematology and Immune Dysregulation Program provides comprehensive immune system and genetic evaluations that lead to targeted and individualized therapies. Our team works closely with other specialties, including rheumatology, gastroenterology, hematology and oncology, to complement care and assist in genetic diagnosis and treatment options.
At the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta, one of our missions is to provide a medical home for children with complex, multisystem autoimmune disorders that arise from an underlying defect in immune regulatory pathways. The Immunohematology and Immune Dysregulation Program offers focused immune and genetic evaluation of patients with either early-onset or refractory autoimmune conditions with the goal of providing targeted immune modulatory and biological therapies based on immune profiles and genetics.
Patients with underlying monogenetic immunohematology and immune dysregulation disorders are treated through different subspecialties because many will have more than one autoimmune manifestation and may not respond to conventional management. Identifying underlying immune and genetic etiologies is critical to the effective long-term management of these disorders.
Our program evaluates and treats patients with the following conditions:
Patients with autoimmune cytopenia with lymphoproliferation are typically evaluated for classical autoimmune lymphoproliferative syndrome (ALPS). However, in several of these patients, the workup for classical ALPS is negative. Increasingly, autoimmune cytopenias and lymphoproliferation are recognized as one of the typical presentations of underlying immune regulatory disorders. These patients are usually referred to as “ALPS-like,” and novel genetic defects (e.g., mutations in STAT3, CTLA-4, LRBA, PIK3CD) have been identified in this cohort of patients. Through targeted immune and genetic testing, we are able to identify the immune and genetic abnormality in many of these patients and offer appropriate therapeutic interventions, including sirolimus, abatacept, tocilizumab and ruxolitinib.
IPEX is a genetic disorder that impairs the function of a type of white blood cell that regulates the immune system. Without an effective regulatory mechanism, there is decreased tolerance to self, resulting in the immune system attacking one’s own body. It can cause difficult-to-treat inflammatory bowel disease (IBD), resulting in diarrhea and failure to thrive, severe eczema and autoimmune endocrinopathies such as Type 1 diabetes. IPEX is caused by a defect in the FOXP3 gene. However, several other defects that affect T-cell tolerance, activation and proliferation result in similar clinical symptoms; they are commonly referred to as IPEX-like conditions.
CVID is associated with low immunoglobulin levels that can lead to recurrent sinus and lung infections. A significant proportion of these patients also have autoimmunity and lymphoproliferation, as well as varying degrees of T-cell defects, which are best characterized as late-onset combined immune defects.
IBD is identified as a presenting manifestation or primary immune defect. A high percentage of patients presenting with IBD younger than 5 years old or with treatment-refractory IBD will have an underlying immune and genetic defect.
Patients presenting with unexplained recurrent fevers without an obvious infectious cause might need evaluation for underlying periodic fever syndrome and autoinflammatory syndromes.
HLH is a hyperinflammatory disorder that can be rapidly fatal if not recognized and treated early. Defects in T- and NK-cell cytotoxicity lead to primary HLH. However, patients with an overwhelming infection, such as Epstein-Barr virus (EBV), underlying malignancy and systemic rheumatological conditions, could also have HLH. Our dedicated team of physicians with expertise in clinical management and research in HLH performs comprehensive evaluations to identify underlying causes and provides effective management of the disorder.
In addition to focusing on the evaluation of immune dysregulation disorders, our program offers referral to hematopoietic stem cell transplant (HSCT) for patients with classic immune defects and immune dysregulation disorders.
We provide consultation for HSCT for children whose diagnoses suggest that transplant might be an option for curative treatment. Shanmuganathan Chandrakasan, MD, has expertise in the management of immune deficiency and dysregulation disorders and in HSCT. To achieve excellent HSCT outcomes, the team invests a considerable amount of time and effort in optimizing medical management of immune deficiency and dysregulation disorders prior to HSCT. Comprehensive management of care is provided through each stage, from diagnostic testing to the transplant process to post-transplant follow-up.
We may be able to help your child if she has any of the following clinical problems:
- Immune cytopenia with autoimmune hemolytic anemia (AIHA) and/or immune thrombocytopenic purpura (ITP) with other autoimmune manifestations
- Immune cytopenia with hypogammaglobulinemia, enlarged lymph nodes or spleen enlargement
- Persistent hypogammaglobulinemia following rituximab treatment
- Recurrent fever without an obvious infectious cause
- Diagnosis of IBD at younger than 5 years old
- IBD refractory to first- and second-line medical treatments
- IBD associated with other autoimmune manifestations, such as immune cytopenias, low blood counts and autoimmune endocrinopathy
- IBD with a course complicated by difficult-to-treat fistulating disease
- Refractory rheumatologic condition
- Lupus with age of onset younger than 5 years old
- Early-onset or difficult-to-manage systemic idiopathic arthritis
- Hemophagocytic lymphohistiocytosis
- Recurrent macrophage activation syndrome
- EBV-driven hemophagocytic lymphohistiocytosis
The Immunohematology and Immune Dysregulation Program provides comprehensive immune system and genetic evaluations that lead to targeted and individualized therapies.
- Immune and genetic evaluation for immunohematology and immune dysregulation disorders
- Genetic counseling
- Targeted and biological therapies based on immune and genetic abnormalities
- HSCT for immune defects
Our team works closely with other specialties to complement care and assist in genetic diagnosis and treatment options. These specialties include:
Receiving a cancer diagnosis for your child can be an emotional and overwhelming experience. At the Aflac Cancer and Blood Disorders Center, we are here to support you and your family. Whether treating a toddler during an emergency or helping a teen through chemotherapy treatments, we make it our mission to provide the best care—and best experience—for every child. Family is a big part of your child’s well-being. Not only are you a vital member of the healthcare team; you are a source of security and comfort.
We strive to support your whole family during and after your child’s treatment. These are some of the resources we offer:
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- Shanmuganathan Chandrakasan, MD, Clinical Director
- Laura Lucas, CPNP, MSN, RN
- Bojana B. Pencheva, MMSc