Bruton's agammaglobulinemia:

- how you get it/ what the defect is

- presentation

- lab results

- X-linked recessive (boys)

- Defect in BTK (tyrosine kinase gene) blocks B cell maturation

- Recurrent bacterial infections after 6 months old

- Low B cells and all Igs

Hyper-IgM Syndrome:

- how you get it/ what the defect is

- presentation

- lab results

- Defective CD40L on helper T cells (no class switch)

- Severe, early, pyogenic infection

- Increased IgM, all other Igs are low

Selective Ig Deficiency:

- how you get it/ what the defect is

- presentation

- lab results

- Defect in isotype switching causes a specific Ig to be low (usually IgA)

- Sinus and lung infections, milk allergies and diarrhea, may get anaphylaxis from blood products with IgA

- low IgA

Common variable immunodeficiency (CVID):

- how you get it/ what the defect is

- presentation

- lab results

- Defect in B cell maturation

- Can be acquired in 20-30s, risk of autoimmune disease, lymphoma, and sinopulmonary infections

- Normal B cell numbers (but low plasma cells), low Igs

DiGeorge syndrome:

- how you get it/ what the defect is

- presentation

- lab results

- 22q11 deletion causes failure to develop 3rd and 4th pharyngeal pouches, so no thymus or parathyroids

- tetany (hypocalcemia), recurrent viral/fungal infections, congenital heart and vessel defects

- low T cells, PTH, and Ca²⁺

IL-12 receptor deficiency

- how you get it/ what the defect is

- presentation

- lab results

- decreased Th₁ response

- disseminated mycobacterial infections

- low IFN-γ

Job's syndrome

- how you get it/ what the defect is

- presentation

- lab results

aka Hyper IgE Syndrome

- Th₁ cells fail to produce IFN-γ (can't call neutrophils)

- Course facies, noninflamed (cold) staph. abcesses, retained primary teeth, high IgE, derm problems

- High IgE

Chronic mucocutaneous candidiasis

- how you get it/ what the defect is

- presentation

Severe combined immunodeficiency (SCID)

- how you get it/ what the defect is

- presentation

- lab results

- several types, the most common is defective IL-2 receptor (X-linked)

- pretty much every type of infection due to low T and B cells

- Low IL-2R=low T cells, high adenosine= kills B and T cells

Ataxia-telangiectasia

- how you get it/ what the defect is

- presentation

- lab results

- Defects in ATM gene, which codes for DNA repair enzymes

- Cerebellar defects (ataxia), Spider angiomas (telangiectasia), IgA deficiency

- low Iga

Wiskott-Aldrich syndrome

- how you get it/ what the defect is

- presentation

- lab results

- X-linked recessive (boys) defect causing progressive deletion of B and T cells

- Thrombocytopenic purpura, infections, eczema

- High IgE, IgA, and LOW IgM

Leukocyte adhension deficiency (type 1)

- how you get it/ what the defect is

- presentation

- lab results

- Defect in LFA-1 integrin (CD18) protein on phagocytes

- Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord

- Neutrophilia

Chediak-Higashi syndrome

- how you get it/ what the defect is

- presentation

- lab results

- Autosomal recessive: defect in lysosomal trafficking regulator gene (LYST). Microtubule dysfunction in phagosome-lysosome fusion.

- Recurrent pyogenic infections by staph or strep, partial albinism, peripheral neuropathy

Chronic granulomatous disease

- how you get it/ what the defect is

- presentation

- lab results

- Lack of NADPH oxidase decreases reactive oxygen species and absent respiratory burst in neutrophils

- increase susceptibility to catalase positive organisms (S. aureus, E. coli, Aspergillus)

- Negative Nitroblue tetrazolium dye reduction test (doesn't turn blue)