Anterior uveitis affects the front of the eye (usually the iris) and is the most common type. Only one eye is usually affected. Symptoms include: an aching, painful, red eye blurred or cloudy vision, a small pupil, an iris that may have a slightly different color sensitivity to light (photophobia), floaters (dots that move across the field [...]

Affected males have no B-cells and no serum immunoglobulins. They have very small lymph nodes and no tonsils. Bone marrow contains adequate number of pre-B-cells, but maturation is arrested at that point. Patients are protected by maternal immunoglobulins for first 6-12 months of life. Recurrent pyogenic infections develop after the first year of life. These [...]

This is an X-linked immunodeficiency. Affected males have small and defective platelets in combination with thrombocytopenia. Patients develop severe eczema, pyogenic and opportunistic infections. There are increased serum levels of IgA and IgE, a normal level of IgG and decreased level of IgM. T-cells are defective, and this defect progresses with time (cytoskeletal defect is [...]

This is a delay in the production of immunoglobulins by infants (which normally starts in third month of life). It may be delayed up to 36 months (but it usually occurs during second year of life). It appears that B-cells are normal but they lack help from CD4+ T-cells in synthesizing antibodies. Initially (6-12 months) [...]

It is incompatible with life; infants usually die within first 2 years. They suffer recurrent infections with viruses (rotavirus), bacteria, protozoans (Pneumocystis Carinii), and yeast (Candida albicans). They develop progressive disease if vaccinated by live vaccines (Poliovirus and bacille Calmette-Guérin). Patients have low number of lymphocytes in their blood (less than 3000 ml.) Lymphoid tissue [...]

This is a failure to express MHC class II molecules on the surface of antigen presenting cells (macrophages and B-cells). Affected infants have recurrent infections, particularly of the gastrointestinal tract. Humoral immunity is affected in these children (due to MHC-II role in CD4+ T-cell development).

Patients are IgA and IgG deficient but produce large amounts of polyclonal IgM. It is caused by the inability of immune system to make switch from IgM to IgG and other classes of immunoglobulins. Patients are susceptible to pyogenic infections and should be treated with intravenous gammaglobulins. Also, they form IgM antibodies directed against neutrophils, [...]

It is the most common immunodeficiency (1:700 in Caucasians – rare in others). Patients tend to develop immune-complex disease (type III hypersensitivity). About 20% also have deficiency of IgG2 and IgG4. These patients are prone to recurrent pyogenic infections.

It is an autosomal recessive trait. Children develop ataxia by 18 moths of age. Dilated capillaries appear on eyes and skin by 6 years of age. There is variable T-cell deficiency (and in 70% of patients there is IgA deficiency). They develop serious sinus and lung infections. Cells exhibit chromosomal breaks (usually 7 and 14) [...]

It is due to C1 inhibitor deficiency (responsible for dissociation of activated C1 by binding to C1r2C1s2 complex). It is clinically the most important complement system deficiency. It is inherited as an autosomal dominant trait. Symptoms are referable to 3 prominent sites: Subcutaneous tissues (face, hands, arms, legs, genitals, and buttocks); Abdominal organs (stomach, intestines, [...]

This is a congenital defect in the development of organs derived from the third and fourth pharyngeal pouches (thymus). T-cell deficiency is variable and depends on the severity of thymus abnormality. Patients have characteristic facial features: wide-set eyes,low-set ears, shortened philtrum of upper lip. They also have malformations of the heart and aortic arch. Defect [...]

Deficiency of the classical pathway components (C1q, C1r, C1s, C2 and C4). Propensity to immune-complex diseases (like SLE). Deficiency of C3, factor H, and factor I. Propensity to pyogenic infections (because of C3 role in opsonization). Deficiency of terminal components (C5, C6, C7, C8) and alternative pathway (properdin and factor D). Propensity for infections with [...]

This is acquired agammaglobulinemia (second and third decade of life). Males and females are equally affected. Cause is unknown, but viral infection (Epstain-Barr) has been implicated. B-cells are present but do not produce IgG-s. Activation of B-cells by the T-cells is defective. Patients are prone to pyogenic infections and to gastrointestinal protozoan Giardia lamblia (which [...]