What is Chronic Granulomatous Disease (CGC) ?
Chronic inflammatory state:
- Enzyme defect in respiratory burst white cells: NADPH-Oxidase
—> Reduced ROS/Superoxide production
—> Pc: Recurrent Infections
What classical features are present in the Hx of a child with Chronic Granulomatous Disease (GGD) ?
Skin Infections:
- Staph /Commensal infections
- Abscesses
LRTi:
- Staph infections
- Empyema
What organ system is rarely involved in patients with CGD ?
GIT-complications include:
1.) Pyloric Stenosis
- abdominal distension
- vomiting
2.) Colitis
- abdominal pain
- diarrhoea
- PR bleeding
What is the Diagnostic Test for CGD?
Nitrotrazolium-Blue Test:
Healthy Patient —> Blue
CGD Patient —> Clear Colourless
What Mutations cause Enzyme defects in NAPDH-Oxidase —> CGD ?
X-linked recessive:
CYBB - [70%]
Autosomal recessive:
CYBA
NCF1
NCF2
NCF4
What Treatment options are there for patients with Acute complications of CGD?
Acute Treatment of Infection/Inflammation:
1.) IV-Antibiotics
2.) Steroids
3.) INF-gamma —> Boost immune system
4.) Surgical:
- Drainage of Abscesses
- Bowel obstruction
What Treatment options are there for patients with CGD?
Chronic Treatment:
1.) Prophylactic Antibiotics + Anti-fungals
2.) INF-gamma
3.) HSCT - only curative option
4.) Gene therapy - evolving
What is SCID ?
Severe Combined immunodeficiency is a paediatric immunologic-emergency !
Genetic Mutations —> absent Lymphocytes (T-cells + B-cells)
What is genetic mutations are involved in patients with SCID ?
X-Linked: IL2RG-gene (boys)
Autosomal recessive [10-15%]
Adenosine-deaminase (ADA) deficiency
What is the Classical Presentation of SCID ?
Life Threatening infections:
Skin Rash:
- Viral infection
- Maternal T-cell engraftment
- Omenn Syndrome
Respiratory Complications:
- interstitial pneumonitis (PCP)
Viral infections:
- Adenovirus
- RSV
- Influenza + parainfluenza
- CMV
Bacterial + Fungal Pneumonia
Disseminated Viral Infection:
- CMV
- Hepatitis
- Encephalitis
- Viraemia
BCG-complications:
- Inoculation site Abscess
- Ipsilateral Axillary Lymphadenopathy
- Disseminated BCG
Absent Lymphoid Tissue
GIT-symptoms:
- Diarrhoea
- Faltering growth
- Persistent Oral + Perineal Candidiasis
-
What is Omenn Syndrome?
What is agents are used to test T-cell function, specifically Mitogen proliferation ?
1.) Phytohaemaggluttinin [PHA]
2.) Candida antigens
What are the classical clinical features of Leukocyte adhesion defects ?
1.) Severe recurrent infections [-/- PUS]
2.) Neutophilia
3.) Delayed separation of the umbilical cord
What Invx are considered in 1o-EBV infection:
Blood Film - Atypical Lymphocytes (Downey Cells)
Monospot Test - Heterophile AB’s
EBV-Serology [High, IgM Recent Infection]
What Blood findings are you likely to see in EBV infection?
1.) Atypical Lymphocytosis
2.) Thrombocytopenia
3.) Deranged LFT’s
What are the monitoring requirements for patients on IV-Ig?
1.) FBC:
- neutropenia
- haemolysis
2.) LFT: Transient Transaminitis (rpt 3-6 months / 1 year)
What % of kids outgrow their egg allergy?
70%
What organism causes Scarlet Fever ?
Group A - Streptococci
What are the classical features of Scarlet Fever ?
S - Sore Throat
C - Circumoral Pallor
A - Antecubital Fossa petechiae “Pastia-Lines”
R - Rash Sandpaper
L - Lymphadenopathy
E - Erythrogenic Toxin
T - Tongue (Strawberry)
What are the 3C’s Phagocytic Disorders ?
- CGD Chronic Granulomatous Disease
- Chediak-Higashi Syndrome
- CD-18 Deficiency (Leukocyte adhesion defect)
How can Pertussis present in Babies?
1.) Apnoeas (Prior to immunisation)
2. ) Lymphocytosis
3.) Non-specific chest signs
What organisms can cause ACS in Sickle cell patients?
Atypical Organisms:
1.) Mycoplasma Pneumoniae
2.) Chlamdyia
What is X-linked agammaglobulinaemia Bruton’s Disease?
Mutations in genes affecting Bruton tyrosine kinase:
- inability if precursor B-cells to mature —> no plasma cells —> No Ab’s
- Poorly developed lymphoid organs
What does the Triad of eczema, thrombocytopenia & immune-dysfunction suggest?
Wiskott-Aldrich syndrome [WAS]
