Most common primary immunodeficiency
Selective IgA deficiency (SIgAD)
Most common extracranial solid malignancy
Neuroblastoma
Gene & chromosome in hereditary retinoblastoma
Rb gene on chromosome 13
Mutation in Ewing’s sarcoma
t(11,22) translocation
Buccal mucosal rash that’s pathognomonic in measles
Koplic spots
identify
Koplic spots; measles
Most severe complication of measles
Subacute sclerosing panencephalitis (SSPE), paroxysmal delta waves on EEG and ↑ IgG in CSF
Most common complication of mumps*
Orchitis, in postpubertal males
~30% of mumps patients who weren’t previously vaccinated, 2-3% if vaccinated
Explain: The MEN of the PANamanian ORCHestra know how to throw a good PARty
complications of mumps: meningitis, pancreatitis, orchitis, parotitis
What is Job Syndrome
Autosomal dominant hyper-IgE syndrome
Mutation in Job Syndrome
STAT 3 mutation
Pathology of Job syndrome
1.) Helper T17 deficiency and decreased interferon gamma (IFN-γ)
2.) Impaired neutrophil chemotaxis
Presentation of Job syndrome
1.) Coarse facial features; wide nasal bridge & prominent forehead
2.) Recurrent sinopulmonary infections
3.) Retained primary teeth and reduced bone density → pathologic fractures
4.) Eczema
What is Wiskott-Aldrich syndrome
X-linked recessive immunodeficiency
Pathology of Wiskott-Aldrich syndrome
1.) WAS (wiskott aldrich syndrome) gene mutation causing imapired signaling to actin cytoskeleton
2.) Impaired t-cell function and thrombocytopenia
3.) T-cell dysfunction leads to elevated IgE production
Triad of Wiskott-Aldrich
WATER–Wiskott-Aldrich
1. T–thrombocytopenia
2. E–eczema
3. R–Recurrent (pyogenic) infections
or
Wis-PER
Wiscott-Aldrich
1. Purpura
2. Eczema
3. Recurrent pyogenic infections
Define Ataxia telangiectasia
Autosomal recessive neurodegenerative immunodeficiency condition
Pathology of Ataxia telangiectasia
1.) ATM mutation causing lack of functional ATM kinase
2.) Failure to recognize and repair dsDNA breaks leading to continuous replication of damaged DNA
3.) Cell death in the cerebellum and failure of VDJ recombination
4.) Increased risk of leukemia and lymphoma
Triad of Ataxia Telangiectasia
3 As
1. Ataxia
2. Spider angiomas
3. IgA deficiency
Define IL-12 receptor deficiency
Autosomal recessive immunodeficiency due to defective IL-12 and IL-23 signaling
Pathophysiology of IL-12 receptor deficiency
1.) Deficiency leads to impaired IFN-γ signaling
2.) Impaired macrophage activation and Th1 response
3.) Increased risk of infection from intracellular bacteria and/or weakly pathogenic mycobacteria eg. salmonella and BCG vaccine
Define ‘Sever combined immunodeficiency’–SCID
“Bubble baby disease”
Little to no immune system due to defective t-cells
Mutation(s) of SCID
- X-linked recessive, defective IL-2R chain (most common)
- Autosomal recessive, adenosine deaminase deficiency
- Autosomal recessive, Human RAG deficiency
- Autosomal recessive, simultaneous loss of B and T cell function
Presentation of SCID
- Asymptomatic at birth, presents at 4-6 months
- Recurrent bacterial, viral, and fungal infections eg. thrush, pneumonia
- Failure to thrive, fatal within 2 years if untreated
