Immunodeficiencies

T cell and B cell deficiencies

RAG, ADA deficiency, X-linked SCID (agammaglobulinemia), digeorge

T-cell deficiency

bare lymphocyte syndrome and wiskott-aldrich syndrome

Antibody related immunodeficiency

Hyper igM syndrome, Selective IgA deficiency

Phagocyte immunodeficiencies

chronic granulomatous disease, chediak-higashi syndrome

RAG SCID

VDJ recombination mediated by RAG, no B or T cells formed, no granulomas no antibodies

ADA SCID

autosomal, adenosine deaminase, involved in nucleic acid metabolism, toxic metabolites build up, affects lymphocytes, pneumocystis infection, NO B, T or NK cells

X-linked SCID

bruton agammaglobulinemia, x-linked, lack of gamma chain that affects cytokine receptor, B cells function independent of T-cell, no T or NK cells, only IgM made

Digeorge syndrome

catch 22, no thymus development, no T cell, only IgM made, B cell act independent of T-cell, No T cells

Bare lymphocyte syndrome type II

lack of class II MHC, no CD4+ T-cells, IgM only made, No macrophage activation, limited CD8, limited B-cell function, NK cells present

Wiskott-aldrich syndrome

x-linked recessive, affects intracellular signaling and cytoskeleton remodeling, presents as thrombocytopenia, microthrombopenia, eczema, early childhood, immune cells present but don’t function properly, Th2 less effected so eosinophilia along skin

Wiskott-aldrich cells affected

present but not functioning well, B, T, NK, neutrophils, dendritic, macrophages

Hyper IgM syndrome

no isotype switching, CD40L deficiency on T-cell, no macrophage activation, TB susceptible, None functioning B-cell, CD4, macrophages

Selective IgA deficiency

increased susceptibility to mucosal infections

Chronic granulomatous disease

lots of granulomas formed, mutated NADPH oxidase, less effective lysosomes, FLOW cytometry, NBT- stays blue no conversion, constant T-cell activation, recurrent bacterial and fungal infections

Chediak-higashi syndrome

albinism, bleeding and neuropathy, autosomal recessive, LYST gene, abnormally large lysosomes, abnormal platelets, neurological problems, giant granules in WBC, neutrophils, dendritic, and macrophages affected

C1, C2, C4 Complement deficiency

immune complex disease, classical pathway, build up of complexes, (type 1 hypersensitivity like)

C3 complement deficiency

capsulated bacteria, lysis is prevented with limited inflammation and opsonization

C5-C9 complement deficiency

neisseria infection, lysis is prevented

Factor D, properdin complement deficiency

capsulated bacteria, no immune complex disease, not in classical pathway, alternate pathway is affected

Factor I complement deficiency

normally inhibits C3b, results in no C3, no lysis, complexes formed

DAF, CD59 complement deficiency

RBC are lysed, paroxysmal nocturnal hemoglobinuria

C1INH complement deficiency

normally inhibits C1, MASP, Kallikrein and factor XIIa, recurrent EDEMA, complement out of proportion to infection, rash after sickness

AIDS

CD4 cells killed by virus, CD4 drops over years, symptoms below 500 cells, AIDS below 200