congenital immune disorders Flashcards
chronic mucocutaneious candidiasis: definition, associated conditions, and testing
persistent infections of the skin, mucous membranes, and nails by candida due to T-cell deficiency/dysfunction. often associated with adrenal pathology.
testing: poor reaction to cuntaenous C. albicans anergy test; possibly decr. IgG
What are the B-cell disorders?
x-linked agammaglobulinemia, IgA deficiency, hyper IgM disease, common variable immunodeficiency
x-linked agammaglobulinemia
poor B cell differentiation and maturation; normal CD19 counts but low B cell counts on peripheral smear; low total immunoglobulin counts. few lymph nodes and tonsils
hyper IgM disease
defect in T-cell CD40 ligand resulting in poor interaction with B cells, low IgG, and excessive IgM. causes infections by encapsulated bacteria (pulm and GI- pts have PCP pneumonia, cryptosporidium, CMV infections). pts will have high IgM and low IgG and IGA. may have reduced hct, platelets, and neutrophils. Give IVIG, prophylactive abx, bone marrow transplant
-X-linked recessive
note that FA calls this a combined B and T cell disorder
common variable immunodeficiency
autosomal disorder of B-cell differentiation resulting in low immune globulin levels. pts have incr. respiratory and GI infections. incr. risk of autoimmune disorders and malignancy. ths pts show low immune globulin levels, poor response to vaccination, and decr. CD4:CD8 levels
SCID
absent T and abnormal antibody function that causes severe immune compromise. often fatal. pts have significantly decr WBCs, decr immune globulins. give IVIG, bone marrow transplant, no live or attenuated vaccines.Need irradiated blood in case of transfusion.
pts have no thymic shadow, no germinal centers on lymph node biopsy
wiskott aldrich: sx, treatments
x-linked DO of imune development causing susceptibility to encapsulated bacteria and opportunistic infections. Associated with eczema and thrombocytopenia (WATER: thrombocytopenia, eczema, recurrent infections).
decr. platelets, decr IgM with normal or high other immunoglobulins
tx: splenectomy, abx, IVIG, bone marrow transplant
ataxia telengiectasia
AR disorder causing cutaneous telengiectasias, cerebellar dysfunction, incr. risk of CA, and impaired WBC and IgA development. may have high AFP.
ataxia/telegiectasias present after age 3.
caused by ATM gene defects that prevents fixing of DNA double stranded breaks and leads to cell cycle arrest.
chronic granulomatous disease
neutrophils can’t digest engulfed bacteria, leading to recurrent bacterial and fungal infections. Patients have cutaneous, pulmonary, and perirectal abscess formaton, LAD. caused by NADPH oxidase deficiency, usually x-linked recessive
What kinds of organisms are pts with chronic granulomatous disease susceptible to?
catalase positive organisms: pseudomonas, listeria, aspergillosis, candida, e coli, s aureus, serratia
hyper IgE syndrome
FATED: coarse faces, staph abscesses, retained primary teeth, incr. IgE, derm problems
due to STAT3 mutation causing impaired neurtrophil recruitement
chediak-higashi syndrome
AR dysfunction of neutrophils resulting in S aureus, strep, gram negative, bacterial, and funglal infections. associated with abdnormal platelets, albinism, and neuro dysfunction. pts have large granules within granulocytes.
leukocyte adhesion deficiency
inability of neutrophils to leave circulation because of abnormal integrins or E-selectin. recurrent resp and skin infections, delayed separation of the umbilical cord, short stature, abnormal faces, and cognitive impairment, esp with E-selectin deficits.
How is leukocyte adhension deficiency treated?
abx
type 1: integrin deficiency. try bone marrow transplant
type 2: E-selectin deficiency. need fucose supplementation
What is the major significance of complement deficiencies?
predisposition to autoimmune DO like SLE, predisposition to infections
