decreased to normal IgG, IgM.
increased IgE, IgA.
Fewer and smaller platelets.
Wiskott-Aldrich
T cells, PTH, Ca2+ all decreased
Absent thymic shadow on CXR.
22q11 deletion detected by FISH.
Thymic aplasia
(DiGeorge syndrome)
How does myeloperoxidase (MPO) deficiency present?
increased candida albicans infections but mostly asymptomatic
Presentation of Chronic mucocutaneous candidiasis?
Noninvasive Candida albicans infections of skin and mucous membranes.
Abnormal dihydrorhodamine (flow cytometry) test. Nitroblue tetrazolium dye reduction test is ⊝.
Chronic granulomatous disease
Deficiency of Th17 cells due to STAT3 mutation impaired recruitment of neutrophils to sites of infection.
Autosomal dominant hyper-IgE syndrome (Job syndrome)
Presentation of Chédiak-Higashi
syndrome?
Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis.
decreased IgA with normal IgG, IgM levels.
Selective IgA deficiency
How does Ataxia-telangiectasia present?
Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency.
Poor smooth pursuit of eye movements**
Presentation of Hyper-IgM syndrome?
Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV.
Defect in B-cell differentiation.
Many causes.
Common variable immunodeficiency
Absent in vitro T-cell proliferation in response to Candida antigens.
Absent cutaneous reaction to Candida antigens.
Chronic mucocutaneous candidiasis
Presentation of Thymic aplasia (DiGeorge syndrome)?
Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), conotruncal abnormalities (e.g., tetralogy of Fallot, truncus arteriosus).
How does Wiskott-Aldrich present?
WATER:
Wiskott-Aldrich:
Thrombocytopenic purpura,
Eczema (truncal),
Recurrent infections.
increased risk of autoimmune disease
and malignancy.
Presentation of Chronic granulomatous disease?
susceptibility to catalase ⊕
organisms (Need PLACESS):
Nocardia, Pseudomonas,
Listeria, Aspergillus,
Candida,
Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive.
Leukocyte adhesion deficiency (type 1)
Most common 1° immunodeficiency.
Selective IgA deficiency
Presentation of Severe combined immunodeficiency
(SCID)?
Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections.
Treatment: bone marrow transplant (no concern for rejection).
Most commonly due to
defective CD40L on Th cells
class switching defect;
X-linked recessive.
Hyper-IgM syndrome
Giant granules in
granulocytes and platelets due to defect in microtubles causing defective movement across the cell
Pancytopenia.
Mild coagulation defects.
Chédiak-Higashi
Presentation of X-linked (Bruton) agammaglobulinemia?
Recurrent bacterial and enteroviral infections after 6 months ( maternal IgG).
decreased IFN-γ.
IL-12 receptor deficiency
increased neutrophils.
Absence of neutrophils at
infection sites.
Leukocyte adhesion deficiency (type 1)
T-cell dysfunction. Many causes.
Chronic mucocutaneous candidiasis
decreased conversion of hydrogen peroxide to bleach
myeloperoxidase (MPO) deficiency
decreased Th1 response. Autosomal recessive.
IL-12 receptor deficiency
Presentation of Autosomal dominant hyper-IgE syndrome (Job syndrome)?
FATED:
coarse Facies,
cold (noninflamed) staphylococcal Abscesses,
retained primary Teeth,
IgE,
Dermatologic problems (eczema).
Presentation of Common variable immunodeficiency?
Can be acquired in 20s–30s; risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections.
Mutation in WAS gene (X-linked recessive); T cells unable to reorganize actin cytoskeleton.
Wiskott-Aldrich
Absent B cells in peripheral blood, Ig of all classes.
Absent/scanty lymph nodes and tonsils.
X-linked (Bruton) agammaglobulinemia
Several types including defective IL-2R gamma chain (most common, X-linked), adenosine deaminase deficiency (autosomal recessive).
Severe combined immunodeficiency
(SCID)
decreased plasma cells and immunoglobulins.
Common variable immunodeficiency
Defect of NADPH oxidase
increased reactive oxygen species (e.g., superoxide)
and decreased respiratory burst in neutrophils; X-linked recessive most common.
Chronic granulomatous disease
Defects in ATM gene -> failure to repair DNA double strand breaks -> cell cycle arrest.
Ataxia-telangiectasia
Presentation of IL-12 receptor deficiency?
Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine.
decreased T-cell receptor excision circles (TRECs).
Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry).
Severe combined immunodeficiency
(SCID)
increased IgE, decreased IFN-γ.
Autosomal dominant hyper-IgE syndrome
(Job syndrome)
Defect in lysosomal trafficking regulator gene (LYST).
Microtubule dysfunction in phagosome-lysosome fusion;
autosomal recessive.
Chédiak-Higashi
syndrome
Defect in BTK, a tyrosine kinase gene no B cell maturation. X-linked recessive.
X-linked (Bruton) agammaglobulinemia
22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches absent thymus and parathyroids.
Thymic aplasia (DiGeorge syndrome)
increased AFP.
decreased IgA, IgG, and IgE.
Lymphopenia, cerebellar atrophy.
Ataxia-telangiectasia
Presentation of Selective IgA deficiency
Majority Asymptomatic.
Can see Airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.
Presentation of Leukocyte adhesion deficiency (type 1)?
Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (> 30 days).
results of nitroblue tetrazolium dye reduction test in myeloperoxidase (MPO) deficiency ?
positive which is normal
increased IgM.
decreased IgG, IgA, IgE.
Hyper-IgM syndrome