What are Primary Immune deficiencies or Inborn errors of immunity?
Primary immune deficiencies (PIDs) are a group of genetic disordersaffectingdevelopment and function of immune system.Due to the poor function of immune system in tackling infections, severe bacterial, viral or fungal infections occur. There are over 400 forms of PID, ranging widely in severity. It is estimated that 10 million people worldwide are living with primary immunodeficiency, however, majority are still undiagnosed worldwide. This leads to severe disease, high morbidity and mortality if left untreated.
Are You Searching for Pediatric Immunologist in Hyderabad?
Due to the poor function of immune system in tackling infections, severe bacterial, viral or fungal infections occur
If your child’s system is not working right, he may suffer from frequent, recurrent, severe, and/or uncommon infections like fever, sinusitis, otitis, pneumonia, diarrhea, pus collection, abscess infection of the lung, and fungus infection within the mouth, rash, eczema or failure to thrive.
If your child suffers from recurrent infections or other problems together with immune system, a Pediatric immunologist has special skills to diagnose immune defect and treat your child.
So, as a Parent, if you observe any quite the above symptoms in your Child and Searching for Pediatric Immunologist in Hyderabad or Best Immunologist in Hyderabad then you are at the right place, Book your Appointment with our Expert Pediatric Doctor Dr. Anjani Gummadi, who is a specialist in Immunology from prestigious institute PGIMER.
WHEN TO SUSPECT PID? What are the common symptoms?
The clinical presentation of PIDsare variable and includes severe or unusual infections, autoimmune diseases,and malignancies.
When do parents need to worry about their child immunity?What are warning signs to identify an underlying defect in immunity?
When do parents need to worry about their child immunity?What are warning signs to identify an underlying defect in immunity?
1. Recurrent or prolonged fever
2. Recurrent ear infections
3. Serious sinus infections
4. Recurrent pneunonias
5. Recurrent diarrheas, colitis
6. Recurrent, deep skin abscesses
7. Infections in internal organs like liver, brain, bone
8. Persistent thrush in mouth or fungal infection on skin
2. Recurrent ear infections
3. Serious sinus infections
4. Recurrent pneunonias
5. Recurrent diarrheas, colitis
6. Recurrent, deep skin abscesses
7. Infections in internal organs like liver, brain, bone
8. Persistent thrush in mouth or fungal infection on skin
9. Rash, eczema
10. Failure of an infant to gain weight or grow normally.
11. Need for intravenous antibiotics to clear infections
12. Severe infections requiring hospitalisation
13. Development of autoimmune disorders at a young age
14. Unexplained swelling of hands, feet or neck
15. Enlarged liver , spleen or lymph nodes
16. Deaths in the family ex, siblings, uncles, etc
17. Complications due to certain vaccines, ex BCG vaccine
10. Failure of an infant to gain weight or grow normally.
11. Need for intravenous antibiotics to clear infections
12. Severe infections requiring hospitalisation
13. Development of autoimmune disorders at a young age
14. Unexplained swelling of hands, feet or neck
15. Enlarged liver , spleen or lymph nodes
16. Deaths in the family ex, siblings, uncles, etc
17. Complications due to certain vaccines, ex BCG vaccine
WHEN TO SUSPECT PID? What are the common symptoms?
The clinical presentation of PIDsare variable and includes severe or unusual infections, autoimmune diseases,and malignancies.
When do parents need to worry about their child immunity?What are warning signs to identify an underlying defect in immunity?
When do parents need to worry about their child immunity?What are warning signs to identify an underlying defect in immunity?
1. Recurrent or prolonged fever
2. Recurrent ear infections
3. Serious sinus infections
4. Recurrent pneunonias
5. Recurrent diarrheas, colitis
6. Recurrent, deep skin abscesses
7. Infections in internal organs like liver, brain, bone
8. Persistent thrush in mouth or fungal infection on skin
2. Recurrent ear infections
3. Serious sinus infections
4. Recurrent pneunonias
5. Recurrent diarrheas, colitis
6. Recurrent, deep skin abscesses
7. Infections in internal organs like liver, brain, bone
8. Persistent thrush in mouth or fungal infection on skin
9. Rash, eczema
10. Failure of an infant to gain weight or grow normally.
11. Need for intravenous antibiotics to clear infections
12. Severe infections requiring hospitalisation
13. Development of autoimmune disorders at a young age
14. Unexplained swelling of hands, feet or neck
15. Enlarged liver , spleen or lymph nodes
16. Deaths in the family ex, siblings, uncles, etc
17. Complications due to certain vaccines, ex BCG vaccine
10. Failure of an infant to gain weight or grow normally.
11. Need for intravenous antibiotics to clear infections
12. Severe infections requiring hospitalisation
13. Development of autoimmune disorders at a young age
14. Unexplained swelling of hands, feet or neck
15. Enlarged liver , spleen or lymph nodes
16. Deaths in the family ex, siblings, uncles, etc
17. Complications due to certain vaccines, ex BCG vaccine
Prolonged fever
Ear infections
Sinus infections
Pneumonia
Diarrheas
Deep skin abscesses
Brain infections
Fungal infection
Grow normally
Antibiotics to clear infections
Requiring hospitalisation
Autoimmune disorders
Swelling of hands
Lymph nodes
Deaths in the family
Complications due to BCG vaccine
What are various types of PIDs?
Immune system is a complicated network of many cells, molecules, proteins, antibodies and cytokines in the body. Any defect of these will lead to PIDs. However, the symptoms, severity of the disease depend on the type of defect.
The immunodeficiencies have been classically divided into:
The immunodeficiencies have been classically divided into:
Diseases of immune dysregulation
- Familial Hemophagocytic lymphohistiocytosis(HLH)
- X-linked lymphoproliferative syndromes
- Autoimmune lymphoproliferative syndrome
- defects of Tregulatory cells, ex IPEX, etc
Affecting cellular and antibody immunity
- Severe combined immunodeficiencies
- DOCK8 deficiency
- Wiskott Aldrich syndrome
- Hyper IgM syndrome, etc
Autoinflammatory syndromes
- Periodic fever syndrome: FMF, CAPS, TRAPS, HyperIgD syndromes
- Interferonopathies
- Blau syndrome
- Deficiency of ADA2, etc
Antibody deficiencies
- X-linked agammaglobulinemia
- Selective IgA deficiency
- Common variable immunodeficiency, etc
Defects of phagocytes
- Chronic granulomatous disease
- Leukocyte adhesion deficiency
- Neutropenia, etc
Defects in innate immunity
- IRAK4/MYD88 deficiency
- Mendelian susceptibility to mycobacterial diseases
- Toll like receptor defects, etc
Defects in complements
- Early onset systemic lupus erythematosus
- Hereditary angioneurotic edema
Others
- Bone marrow failure syndromes
- Phenocopies of inborn errors of immunity , etc
What should I expect when I see a immunologist?
During your first visit, your immunologist will get a thorough history of your child’s symptoms, along with your family history. A thorough physical examinations will be done. A detailed review of all records will be done including previous investigations. This will enable your doctor to make a probable diagnosis. In addition, necessaryinvestigations will be ordered. These may include
1. Complete hemogram: Neutrophilcounts can be abnormal in neutropenia and leukocyte adhesion deficiency
Low platelets are seen in Wiskott Aldrich syndrome
Low lymphocyte countsare seen in cellular defects
2. Tests to isolate organism causing infections
3. Quantitative immunoglobulins (IgG, IgA, IgM) levels
4. Antibody response to immunization
5. T lymphocyte enumeration (CD3, CD19, CD56/16, CD4, CD8) by flow cytometry
Low platelets are seen in Wiskott Aldrich syndrome
Low lymphocyte countsare seen in cellular defects
2. Tests to isolate organism causing infections
3. Quantitative immunoglobulins (IgG, IgA, IgM) levels
4. Antibody response to immunization
5. T lymphocyte enumeration (CD3, CD19, CD56/16, CD4, CD8) by flow cytometry
6. Nitroblue-tetrazolium (NBT) assay
7. Dihydrorhodamine (DHR) assay by flow cytometry
8. Serum complements, C3, C4, C1Q levels, C1 esterase inhibitor and CH50
9. Genetic analysis of child and family ( if necessary) to find mutations on genes
10. Prenatal testing: arents who have a child with a primary immunodeficiency disorder might want to be tested for certain immunodeficiency disorders during future pregnancies. Samples of the amniotic fluid, blood or cells from the tissue that will become the placenta (chorion) are tested for problems.
7. Dihydrorhodamine (DHR) assay by flow cytometry
8. Serum complements, C3, C4, C1Q levels, C1 esterase inhibitor and CH50
9. Genetic analysis of child and family ( if necessary) to find mutations on genes
10. Prenatal testing: arents who have a child with a primary immunodeficiency disorder might want to be tested for certain immunodeficiency disorders during future pregnancies. Samples of the amniotic fluid, blood or cells from the tissue that will become the placenta (chorion) are tested for problems.
How is primary immunodeficiency disease treated?
Treatment focuses on preventing and treating infections and replacing missing or defective immune system components.Exact treatment depends on the type of PID.
1. Treating infections. Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. Infections that don’t respond may require hospitalization and intravenous (IV) antibiotics.
2. Preventing infections:Antimicrobials to prevent bacterial or fungal infections: Trimethoprim/sulfamethoxazole (TMP/SMX) prophylaxis and anditraconazole prophylaxis, antituberculartherapy ,etc
3. Immunoglobulin therapy, which may be given intravenously (IV) or subcutaneously (SC), to replace some types of immune system components and to prevent infections
4. Surgery to manage complications from infections, Ex, to remove pus collection from any part of body
5. Drugs like G-CSF, interferon gamma, fresh frozen plasma, etc depending on type of immune defect
6. Hematopoietic stem cell transplantation to replace defective or absent immune system components is the definitive treatment for certain immune defects. Stem cells (cells that can turn into other kinds of cells) from a donor are transferred into patients body which eventually become normal immune system cells. 7. Gene therapy
2. Preventing infections:Antimicrobials to prevent bacterial or fungal infections: Trimethoprim/sulfamethoxazole (TMP/SMX) prophylaxis and anditraconazole prophylaxis, antituberculartherapy ,etc
3. Immunoglobulin therapy, which may be given intravenously (IV) or subcutaneously (SC), to replace some types of immune system components and to prevent infections
4. Surgery to manage complications from infections, Ex, to remove pus collection from any part of body
5. Drugs like G-CSF, interferon gamma, fresh frozen plasma, etc depending on type of immune defect
6. Hematopoietic stem cell transplantation to replace defective or absent immune system components is the definitive treatment for certain immune defects. Stem cells (cells that can turn into other kinds of cells) from a donor are transferred into patients body which eventually become normal immune system cells. 7. Gene therapy
What are the Precautions to take in a patient with PID
Foremost important aspect is to avoid infections. Some tips for doing this include:
- Practise good hand hygiene
- Have Healthy balanced diet and clean water
- To be fit with physical activity
- Avoid crowds and sick people
- Follow doctor’s instructions on vaccinations
- Take medications regularly with good compliance
Not to neglect any new symptom and meet your doctor immediately