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Bruton's Agammaglobulinemia

Decreased production of B-cells. X-linked rec. defect (boys!) in Bruton's tyrosine kinase (BTK) a/w low levels of all classes of Igs. Decreased number of B cells with normal numbers of pro-B cells in marrow. A/w recurrent bacterial infections after 6mo of age (mom's IgG decline).

Thymic aplasia / DiGeorge syndrome

Decreased production of T-cells. 22q11 deletion. Thymus / parathyroids don't develop (3rd/4th branchial pouches). P/W: tetany (hypocalcemia), recurrent viral / fungal infections (no T-cells), also congenital heart & great vessel defects.

Severe Combined Immunodeficiency (SCID)

Decreased production of B- and T-cells. Defect in early stem cell differentiation. Failure to make MHC II antigens; defective IL-2 receptors (X-linked recessive; most common) or adenosine deaminase deficiency. P/W recurrent bacterial / viral / fungal / protozoal infection. No allograft rejection.

IL-12 receptor deficiency

Decreased activation of T-cells. Decreased Th1 response --> disseminated mycobacterial infections

Hyper-IgM syndrome

Decreased activation of B-cells. Defect in CD40 ligand on CD4 Th cells = can't class switch. P/W severe pyogenic infections, early in life. Lots of IgM, very low IgG/A/E

Wiskott-Aldrich syndrome

Progressive deletion of B and T cells. X-linked. Can't mount IgM response to capsular polysaccharide of bacteria. P/W triad of recurrent pyogenic infections, thrombocytopenic purpura, eczema. Elevated IgE/A; low IgM

Job's syndrome

Decreased activation of neutrophils. No IFN-gamma production by Th cells, so PMNs don't respond to chemotactic stimuli. P/W ("FATED"): coarse Facies, cold (no inflammation) staph Abscesses, retained primary Teeth, increased IgE, Derm problems (eczema)

Leukocyte adhesion deficiency syndrome (type 1)

Phagocytic cell deficiency. LFA-1 integrin (CD18) defective on phagocytes. P/W early bacterial infections, no pus formation, neutrophilia, delayed separation of umbilicus.

Chediak-Higashi syndrome

Phagocytic cell deficiency. Aut rec defect in microtubular function, lysosomal emptying of phagocytic cells. P/W recurrent pyogenic infections (staph / strep), partial albinism, peripheral neuropathy.

Chronic granulomatous disease

Phagocytic cell deficiency (PMNs). No NADPH oxidase activity (or similar enzymes). P/W opportunistic infections with bacteria (S. aureus, E. coli), Aspergilus. Dx: negative nitroblue tetrazolium dye reduction test (NBT)

Chronic mucocutaneous candidiasis

Idiopathic dysfunction of T-cells; specifically against Candida albicans. Lots of candidiasis on skin / mucous membranes.

Selective immunoglobulin deficiency

Idiopathic dysfunction of B-cells. Deficiency in specific class of immunoglobulins (defect in isotype switching?). Selective IgA deficiency is most common. P/W sinus / lung infections; milk allergies / diarrhea common. Anaphylaxis if exposed to blood products with IgA.


Idiopathic dysfunction of B-cells. Defect in DNA repair enzymes with associated IgA deficiency. P/W ataxia (cerebellar probs) & spider angiomas (telangiectasia)

Common variable immunodeficiency

Idiopathic dysfunction of B-cells. Defect in B-cell maturation. Normal numbers of circulating B-cells but decreased plasma cells; decreased Ig. Can be acquired (20s-30s). Increased risk of autoimmune disease, lymphoma.

defective BTK?

bruton's agammaglobulinemia

defective CD40L?


defect in isotype switching?

selective Ig deficiency

defect in B cell maturation?


22q11 deletion?

DiGeorge thymic aplasia

decreased Th1 response with disseminated mycobacterial infx?

IL12 receptor deficiency

Th cells can't produce IFN-gamma so neuts don't respond to chemotactic stimuli?

hyper-IgE (Job's)

defective IL2 receptor?


deficient adenosine deaminase?


failure to synth MHC II antigens?


defect in DNA repair enzymes?

ataxia telangiectasia

progressive deletion of B and T cells?


defect in LFA1 integrin (CD18) protein on phagocytes?

leukocyte adhesion def type 1

defect in microtubular fx with decreased phagocytosis?


lack of NADPH oxidase?

chronic granulomatous disease

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