final-immune deficiencies Flashcards
opportunistic organisms take hold in the host when?
immune system is depleted
Primary Immune Deficiencies (PIDs) are clinically manifested during?
first years of life (>6 months)
PIDs are classified based on Host-defense mechanisms involving?
Ab deficiencies, T cell deficient, SCID, deficiencies of phagocytes, complement deficiencies.
Maternal and protect the infant for only?
6 months post natally
HIV, DiGeorge syndrome, CD3gamma chain mutations, and X-linked hyper IgM syndrome is due to?
T cell immunodeficiency
differential count in blood cells for B cell detects?
CD19 and CD20
lab test serum IgG, IgM, and IgA screens for humoral immunodeficiency and looks for
decrease in Ig’s
X-linked agammaglobulinemia and autosomal recessive type, IgA deficiency, Wiskott-Aldrich are types of?
B cell deficiencies
ADA- adenosine deaminase deficiency, is a
B cell progenitor deficiency- but can affect all cell types
RAG 1, RAG 2, and Artemis mutation affect?
Pro- B cells
BTK, BLNK, Ig-alpha chains affect?
Pre-B cells
CD 19 mutations are selective for
BCR on mature B cells
Failure to express Ig Receptor in developing B cells can induce?
apoptosis
X-linked agammaglobulinemia is caused by mutations in ____which disrupts rearrangement of the Ig Heavy chains. Resulting in early B cell arrest in the Pre-B cell stage. Clinically, low or absent numbers of B cell antibodies IgG, IgA, IgM)
BTK gene (Bruton Tyrosine Kinase)
X-linked agammaglobulinemia exhibits heterogeneity and has poorly developed or absent
spleen, tonsils, adenoids, Peyer’s patches, and peripheral lymph nodes
Autosomal recessive agammaglobulinemia is a mutation in?
BLNK-signal transduction pathways.
some IgG production happens in the mature B cells. Isotype switching with active ___ induces plasma cell differentiation in infections.
CD19
defects in B cell formation
inherited
antibodies against B cells for immune targeting is
acquired.
in IgA deficiency, what is not detectable?
soluble, circulating IgA’s
in hyper IgM syndromes, you have high levels of IgM but low?
IgG and IgA
X-linked hyper IgM syndromes (HIGM) are due to mutations in the? which sex is affected more?
CD40 ligand expressed on Cd4+ T helper cells which is a trigger for isotype switching and somatic hypermutation.
males- 75% for CD40ligand
Females and males- 25% autosomal CD40
transient hypogammaglobulinemia of infancy, instrinsic Ig production is delayed for up to 36 months and results in low IgG and IgA concentraionts but normal IgM.
sinopulmonary infections
low IgM, normal IgG, elevated IgA and IgE are characteristics of?
Wiskott-Aldrich syndrome
patient with bloody diarrhea, prolonged bleeding from thrombocytopenia, and recurrent infections by encapsulated bacteria. Patient also has low IgM but elevated IgA. Which syndrome is suspected?
Wiskott-Aldrich Syndrome
severe lymphopenia- low mature T and B cells, and usually detected in childhood.
SCID-severe combined immuno deficiency
ADA patients have no T, B, or NK cells present. which increase risk of?
opportunistic fungal infections- Thrush!
JAK3 deficiencies cause a defect in about 6% of SCID patients
IL-2 signaling
in common gamma chain deficiency, which cell phenotypes are expressed? which are not? which mode of inheritance?
B cells expressed. T and NK cells are not.
X-linked recessive
a key biochemical feature of DiGeorge syndrome is?
Hypocalcemia- resulting in tetany or seizures
deletion of 22q11 chromosome- lack of finger separation
cardiac defects are the focus of clinical management in this syndrome of deletion in 22q11?
DiGeorge
deficiency of NADPH oxidase in phagocytes lead to chronic granulomas disease. Patients have recurrent infections with
catalase-positive organisms
ex: staphylococci
neutrophil granules that contain no Cathepsin G or elastase, no NK activity, recurrent pyrogenic infections, hepatosplenomegaly, lymphadenopathy are typical to this immune disease
Chediak-Higashi syndrome
delayed detachment of the umbilical cord, severe infections, and defective migration of neutrophils
Leukocyte Adhesion Deficiency
Patients with defects of the alternative pathway characteristically present with?
Neisseria infections (Meningitis)
SLE-like syndrome and vasculitis with more than 100 cases deficient in this classical pathway protein
C2
chronic, non-responsive to drug therapy, and usually involve opportunistic and atypical organisms are features of?
immunodeficient infections
