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Immune Disorders
Microbiology
52
Medical
Professional
10/24/2011

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Cards

Term
In B cell deficiency, the infections are caused by which bacteria?
Definition
Strep and H. Influenzae
Term
what are the types of infections in B cell deficiency?
Definition
otitis media
sinusitis
pneumonia
meningitis
osteomyelitis
septic arthriti
Term
what lab study is for B cell immunity?
Definition
Quant. Ig's
Term
what lab study is for T cell immunity?
Definition
ALC, HIV and thymic shadow on chest x ray
Term
what laboratory study is for phagocyte immunity
Definition
CBC w/differential
Term
What laboratory study is for the complement system?
Definition
CH50
Term
Laboratory study in Wiskott-Aldrich syndrome
Definition
MPV which would be low
Term
This test measures T cell, B cell and NK cell numbers and rhodamine
Definition
Flow cytometry
Term
What tests T lymphocyte function
Definition
mitogen and antigen assay
Term
What is neutrophil oxidative burst measured by?
Definition
NBT dye test
Term
How do you calculate the ALC?
Definition
WBC x %lymphocytes
Term
What are the treatment options for B cell disorders?
Definition
Ab's
Immunoglobulin replacement
Term
what is the treatment for T cell disorders
Definition
transplantation and gene therapy
Term
what is the treatment for phagocytic disorders
Definition
IFN-gamma
Ab's
BMT
Term
What is the treatment option for complement?
Definition
Ab's
Pneumococcal vaccine
Term
Effect of XLA on lymph development
Definition
failure of immature B cells to mature

NO B cells absent = No IgG, M or A
Term
Clinical presentation of XLA
Definition
sinusitis, otitis media, pneumonia, enteroviral meningitis.
NO tonsils or lymph nodes
Term
Hyper IgM syndrome Effect
Definition
X linked
defect in isotype switching
Term
clinical presentation of Hyper IgM syndrome
Definition
neutropenia
autoimmunity
recurrent infections
Term
CVID etiology
Definition
low B cells, normal T cells function

CANNOT mount specific Ab responses to immunization
Term
What is the genetic mutation in XLA
Definition
btk gene on X chromosome
Term
Genetic mutation in CVID
Definition
TLR9
Term
Clinical presentation of CVID
Definition
same as XLA or Hyper IgM

sinopulmonary bacterial infections
COPD
gastric carcinoma
splenomegaly
follicular hyperplasia
Term
This disease is co expressed in families w/CVID
Definition
IgA deficiency
Term
Complete DGS is due to
Definition
defective migration of 3rd and 4th branchial pouches during development
Term
How does classical DGS present?
Definition
lymphopenia, thymic aplasia, T cell deficiency, and Hypothyroidism and abnormal facial features
Term
genetic mutation in DGS
Definition
22q11 deletion
Term
clinical presentation of DGS
Definition
hearing loss
cranial nerve palsies
cleft lip and palate
choanal atresia
Term
These two diseases involve a deficient T cell response to Candida albicans
Definition
CMC and APECD
Term
this disease results from mutations in the transcription factor Foxp3
Definition
IPEX
Term
SCID characterization
Definition
profound lymphopenia (LOW ALC)
Term
genetic cause of X linked SCID
Definition
gamma chain of IL-2
Term
This causes autosomal recessive SCID
Definition
mutation in Jak3 kinase
Term
What is still present in RAG deficient SCID
Definition
NK cells
Term
ANP and PNP enzyme defects result in
Definition
elevated levels of dATP and dGTP

PNP only affects T cells
Term
Clinical presentation of WAS
Definition
eczema, thrombocytopenia, and immune deficiency
Term
WAS etiology
Definition
T cell decrease
B cell expansion
elevated IgA and E
Term
Lab diagnosis of WAS
Definition
MPV very low
Term
HLA class II defieciency
Definition
Normal B cells
hypogammaglobulinemia due to lack of T cells
Term
Ataxia Telang etiology
Definition
dilated eye capillaries
abnormal gait
neurologic problems
IgA deficiency
Term
genetic mutation in AT
Definition
ATM gene
Term
clinical chara. of AT
Definition
sensitive to radiation.
IgA deficient
Term
CGD etiology
Definition
neutrophil disorder
defective oxidative burst killing
Term
CGD are susceptible to which infections?
Definition
Staph aureus and Gram - organisms.
Term
CGD clinical presentation
Definition
vomiting
urinary retention
Term
LAD deficiency
Definition
defective migration of neutrophils
Term
Lab Findings of LAD
Definition
elevated neutrophils
absent pus and neutrophils in tissues
Term
Clinical presentation of LAD
Definition
poor wound healing
gingivitis
recurrent fungal infections
Term
Chediak-Higashi syndrome
Definition
NK impaired
normal cytotoxic T cell killing
Term
clinical presentation of Chediak
Definition
partial albinism
bleeding disorders
Term
IFN gamma and IL-12 deficiency result in susceptibility to
Definition
non-tb mycobacteria
Term
Hereditary Angioedema etiology
Definition
C1 esterase inhibitor
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