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54 Cards in this Set

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  • Back
When should you suspect immunodeficiency?
when child presents with unusual, chronic, or recurrent infections.

2+ systemic bacterial infxns (sepsis, osteomyelitis, meninigitis)

3+ serious respiratory/bacterial infections within 1 year

odd locations for infections (brain/liver)
What is the normal absolute lymphocyte count in people less than 6 years old?
Greater than 2500/mm3
What is burtons disease?
X-linked agammaglobulinemia
What is the problem in Brutons disease?
Mutated Brutons tyrosine kinase.
Affects B cells- pro B/pre-B cells dont turn into B cells.
Are T cells affected in Brutons disease?
no they are not
Who gets Brutons disease? at what age and why?
Males- because it is X linked.
happens after 6 months, because maternal Ig's have been depleted
What are the symptoms of Brutons disease?
Recurrent bacterial infections.
like URT's caused by Staph, Strep, and H. influenza
What is the morphology of Brutons disease?
plasma cells absent
peyers patches absent
rudimentary appendix/tonsils
Pre-B cells are present, But immature B cells are absent
What does the CBC of Brutons disease look like?
WBC/Lymphocyte is normal

Peripheral B cells CD markers are low

Immunoglobulins decreased.

Plasma cells absent
Are Skin tests for disease normal in Brutons disease?
yes, normal TB test- (mediated by CD4+ cells that are primed)
What is the Tx for Brutons disease?
replacement with immunoglobulins
What happens in Common Variable Immunodeficiency?
you get hypogammagloublinemia, all classes of Ig's are decreased
Who usually gets Common Variable Immunodeficiency, and when?
this affects both sexes, onset in 2nd-3rd decade (so...10-29?)
What are the symptoms of Common Variable Immunodeficiency?
Recurrent sinopulmonary bacterial infections
Enterovirus encephalitis
Giardia Lamblia Diarrhea
Recurrent Herpes
What are the common complications of Common Variable Immunodeficiency?
Autoimmune disease in 20%

increased risk of malignant lymphoma

increased risk of gastric carcinoma
What role do T cells play in Common Variable Immunodeficiency?
t cell dysregulation leads to B cell dysfunction
What do B cells do in response to antigens in Common Variable Immunodeficiency?
B cells will proliferate, but do not form antibodies
What is the morphology of Common Variable Immunodeficiency?
Hyperplastic lymphoid follicles (large lymph nodes, spleen, and MALT/GALT in the GI)
How do you get IgA deficiency?
this can be familial or acquired

either isolated or secondary to infections
What are the signs of IgA deficiency?
sinopulmonary infections inculding bronchiectasis


risk of Allergies, and autoimmune disease

may have Anti-IgA serum antibodies
What is the risk in transfusion for IgA deficiency?
You can have an anaphylatic rxn to the IgA in the blood- if you have developed anti-IgA antibodies
What stops IgA from being made?
Block of differentiation of Naive B cells into IgA producing cells
What is the CBC of IgA deficiency like?
this should be normal, because there are normal levels of IgA positive B cells
What immunoglobulins are present, and which are absent with Hyper IgM syndrome?
IgM and IgD are high

IgG, IgA, And IgE are absent entirely
What causes Hyper IgM syndrome?
Defect in T cells- fails to induce B cells to produce anything other than IgM
What happens to macrophages in Hyper IgM syndrome?
T cells fail to activate them to eliminate intracellular microbes
What CD's are mutated in Hyper IgM syndrome?
CD40 or CD40L mutations block the CD4 signal to B lympgocytes
What does the X linked form of Hyper IgM syndrome mutate?
What does the autosomal recessive form of Hyper IgM syndrome mutate?
What infections does Hyper IgM syndrome make one prone to?
Recurrent pyogenic infections
Penumocystic jiroveci penumonia
Autoimmune hematologic rxns like (anemia, thrombocytopenia, neutropenia)
What is the pathogenesis of DiGeorge Syndrome?
partial deletion of chromosome 22q11
What are the clinical features of DiGeorge Syndrome?
Malformation of 3rd/4th pharyngeal pouches.
Absent thymus
Hypoplasia of parathyroids
Funny looking face
What happens to the blood chemistry in DiGeorge Syndrome?
calcium is low
What is the CBC like in DiGeorge Syndrome?
Absent T cells in blood
Normal plasma cells
What is the clinical signs of DiGeorge Syndrome?
Frequent viral, fungal, and protozoan infections
increased microbe infections
What is the Tx for DiGeorge Syndrome?
thymic transplant (sweet!)
What are the two most common types of Severe Combined Immunodeficiency?
Cytokine receptor and ADA deficiency
What are the symptoms of Severe Combined Immunodeficiency in infants?
Thrush, diaper rash, failure to thrive
Neonatal rash due to GVH disease, maternal lymphs via placenta engrat into infant and cause injury
What are the signs of Severe Combined Immunodeficiency?
Recurrent severe infections by bacteria, viruses, FUNGI, protozoa

opportunistic infections

hypoplastic thymus

underdeveloped lymph nodes, tonsils, GALT

How is Severe Combined Immunodeficiency transmitted?
X linked in 50-60% of cases
What does the X linked defect in Severe Combined Immunodeficiency cause?
this causes a cytokine receptor mutation, in the gamma chain subunit
What does ADA enzyme deficiency in Severe Combined Immunodeficiency cause?
This leads to an accumulation of metabolites toxic to immature T lymphocytes
What two immunodeficiency syndromes presents with eczema in infancy?
Job syndrome (hyper IgE)

And Wiskott Aldrich syndrome
What are the lab features of Job (hyper IgE) syndrome?
Increased IgE and Eosinophilia
Coarse facial features
failure to lose primary teeth
Eczematoid skin rash
What is the inheritance of Wiskott-Aldrich syndrome?
X linked recessive inheritance
What are the clinical signs of WAS?

What is the pathogenesis is WAS?
defective signalling through the cytoskeleton, causes loss of T cells
What are the Labs in WAS like?
High IgE, Low IgM
Decrease T cells
Low Platelets
What does Inherited defects in C1q, C2, and C4 cause?
Immune complex disease- like SLE
What does C3 defect cause?
pyogenic infections and glomerulonephritis
What does C5-C8 defect cause?
loss of ability to lyse bacteria (no MAC attack!)

recurrent Neisseria infections
What causes hereditary angioedema?
defect of C1 esterase inhibitor
What does C1 inhibitor normally do?
this targets complement cascade components C1s.
What are the clinical features of hereditary angioedema?
Episodic edema
laryngoedema with asphyxia
GI issues
Episodes precipitated by minor trauma or stress