PRIMARY IMMUNODEFICIENCY X Linked Agammaglobulinemia Common Variable Immunodeficiency DiGeorge Syndrome (Thymic hypoplasia) X Linked Recessive (males) Males

and females Long arm of X chromosome (Xq.21.22) due to btk mutation T cell intact Impaired activation of B cell precursor no Ab, all Ig are absent Both humoral and cell mediated Normal B cell Ig G, A hypogammaglobulinemia Abnormal T cell IL 2,4,5
rd

Failure of development of 3 th st and 4 pharyngeal pouch (1 tri) aplastic thymus, parathyroid(tetany), great vessels, esophagus

Deletion of long arm of chromosome 22

Complete: total absence of thymus Normal Ig (sometimes IgE, IgA) T lymphocyte fungal, viral infections Partial: thymic tissue Slight in peripheral T lymphocyte infection but less severe and frequent than complete Aplasia hypocalcemia

Severe Combined Immunodeficiency (SCID)

Constellation of distinct genetic syndrome - X Linked (boys) - Autosomal Recessive

Both cell mediated (primary) and humoral (secondary) - Long arm of X chromosome mutation (defective gamma chain of IL-2 receptor) - ADA enz deficiency Early lymphocytes cant differentiate to T and B cells (undifferentiated epithelial cells looks like fetal thymus) Production and accumulation of deoxyadenosine metabolites toxic to T cell lineage reduction in T and B lymphocytes (greater reduction in T)- remnants of Hassals corpuscles on thymus

Wiskott Aldrich Syndrome

X linked

Defective gene on short arm of X chromosome (Xp.11.23) WASProtein

Progressive secondary depletion of T lymphocyte circulating platelets Normal IgG, IgM, IgA, E Risk for malignant, non hodgkins b cell lymphoma neoplasia risk Triad: progressive cerebellar ataxia Mucocutaneous telangiectasia Recurrent resp tract infection IgA, E, IgM; sx begin in 9mos-2yrs secretory and serum IgA

Ataxia Telangiectasia

Autosomal recessive (rare)

Long arm of chromosome 11 Breakage and rearrangement of chromosome 7, 14

Selective IgA Deficiency Complement Deficiency C2 C3 C5,6,7,8,9 C1 inhibitor Chediak Higashi Chronic granulomatous Disease

1 in 600 European descents

Autosomal dominant Autosomal recessive (rare)

No susc to infection, autoimmune dse susceptibility pyogenic and bacterial infections neisserial infection bradykinin secretion Hereditary angioedema Neutro, mono, lympho giant cytoplasmic granule ineffective leukopenia Neutro, monolack NADPH oxidasecant destroy phagocytosed organism (catalase positive) chronic infection