Primary Immunodeficiencies

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SCID (Severe Combined ImmunoDeficiency)

Back 1

Autosomal Recessive - mutation in any protein part of T Cell signaling.
Combined T, B, and NK cell defects (lymphoid).
Cause life threatening infections and failure to thrive.
Low T cell counts - key feature of all forms.

Front 2

Omenn Syndrome (form of SCID)

Back 2

Mutation in RAG1 / RAG2.
No B cells, poorly functioning but present T cells (clonally restricted, High IgE, Eosinophilia.

Front 3

WAS (Wiskott-Aldrich Syndrome)

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X-linked mutation in WASP - protein needed from actin polymerization at immunologic synapse.
Low B & T cells and Ig.
Eczema and thrombocytic purpura (due to low plt).

Front 4

AT (Ataxia Telangiectasia)

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Autosomal Recessive mutation in AT protein involved in DNA repair.
Low T cells and Ig. Normal B cells. Anaphylaxis with IgA transfusion.
poor coordination, prone to cancer (DNA damage), enlarged blood vessels.

Front 5

DiGeorge Syndrome

Back 5

Non-inherited deletion in chromosome 22 causing heart and thymus defects.
Low T cells and Ig. Normal B cells. Abnormal Ca2+.
Opportunistic infections

Front 6

X-LA (X-Linked Bruton's Agammaglobulinemia)

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X-linked mutation in Bruton's Tyr Kinase causing Pre-B cell development to halt.
Low B cells and Ig.
Begins at 6-9 months - increase viral infections (Btk part of TLR 8&9), respiratory infections, and encapsulated bacteria infections.
Live vaccine not recommended.

Front 7

Selective IgA Deficiency

Back 7

Most common primary immunodeficiency - caused by many genes.
No serum/mucosal IgA.
Many mucosal infections, may be associated with allergic/autoimmune disorders (such as Celiac's)

Front 8

Hyper IgM Syndrome

Back 8

3 subtypes: 1 = XL, no CD40L on T cells; 2 = AR, defective enzymes ins CSR, 3 = AR, no CD40 on B cells.
Leads to no CSR and defective T cell immunity
High IgM, low IgG and IgA. Types 2/3 = neutropenia.
Severe respiratory infections

Front 9

CVID (Common Variable ImmunoDeficiency)

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Group of disorders that cause reduced CSR and humoral/cellular immunity.
Low IgG, A, M. Low T and B cells.
Onset at 1-5 or 15-35 with many mucosal infections.

Front 10

General defects in classical complement

Back 10

Autosomal Recessive
increased risk of autoimmunity (lupus) and increased infections with encapsulated bacteria

Front 11

General defects in alternative complement

Back 11

Autosomal Recessive - more severe.
increased infections

Front 12

Defect in HANE (C1 inhibitor)

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classical pathway always on, causing continuous release of pro-inflammatories

Front 13

Defect in DAF and C59

Back 13

Normally inhibits MAC on RBC, thus causes anemia

Front 14

Defect in MAC

Back 14

increased Neisseria infections

Front 15

Defect in Factor P

Back 15

One of only 2 defects in complement that is X-licked causing a decreased stability of convertase (C3bBb) stability

Front 16

CGD (Chronic Granulomatous Disease)

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X-linked or AR mutation in NADPH enzyme to cause no oxidative burst in phagocytes.
High WBC (due to WBC be attracted to infection, but not being able to preform intracellular killing due to no H2O2 production).
Increased disseminated infections, diagnosed with NBT (blue) & DHR (red indicates Ox burst)

Front 17

LAD (Leukocyte Adhesion Deficiency)

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Autosomal Recessive - type 1 has defect in CD18 and type 2 has defect in CD15 to cause defective chemotaxis - WBC stay in periphery (unable to preform extravasation).
High WBC with increased infections.

Front 18

Chediak-Higashi Syndrome

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Autosomal Recessive mutation that prevents lysosome fusion in phagocytes (phagocytosis is normal however).
Decreased NK and T cell function, Abnormal granules in eosinophils/basophils/neutrophils.
Clumped Albinisims, increase pyogenic infections.

Front 19

Griscelli Syndrome (type 2)

Back 19

Autosomal Recessive.
Low Ig, NK defects, suppressed delayed type hypersensitivity.
Silvery gray hair, increase pyogenic infections

Front 20

Myeloperoxidase Deficiency

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Autosomal Recessive - most common phagocyte disorder.
Increased bacterial infections and diabetes.

Front 21

decrease NK cells

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Overwhelmed T/B cell defenses and chronic viral infections

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decreased monocytes/macrophages

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Defects in receptors for IL-12 and IFN-gamma