Table 3.

Immune defects in the main diseases classified as combined defects associated with syndromic characteristics.

Disease	Humoral Immunity	Cell Immunity	Phagocytes
Wiskott-Aldrich syndrome	Normal B lymphocyte Low IgM and low response to polysaccharides Elevated IgA and IgE	T lymphocyte: progressive decrease	Alteration in cell migration and phagocytosis
Ataxia-telangiectasia	Normal or decreased T lymphocyte Decreased B lymphocyte	Decreased IgG, IgA and IgE Normal orelevated IgM	Normal
Nijmegen rupture syndrome	Generally decreased T lymphocyte Decreased B lymphocyte	Decreased IgG, IgA and IgE Normal or elevated IgM	Normal
Bloom syndrome	Normal	Decreased IgG, IgA, IgM and IgA	Normal
Cartilage-hair hypoplasia	Very low T lymphocyte Normal B lymphocyte	Normal ordecreased	Normal ordecreased
Schimke immuno-osseous dysplasia	Decreased T lymphocyte Normal B lymphocyte	Normal or decreased	Normal ordecreased
Di George syndrome	Normal B lymphocytes and immunoglobulins (usually) or decreased	Decreased T lymphocytes (usually) or normal	Normal
CHARGE syndrome	Normal B lymphocytes Normal or decreased immunoglobulins	Decreased or normal T lymphocytes	Normal
Hyper IgE syndromes (STAT3deficiency)	Generally normal B lymphocytes Reduced memory B cells Very high IgE Decreased specific antibodies	Generally normal T lymphocytes Decreased Regulatory T lymphocytes, TH17 and NK	Abnormal maturation and differentiation
Nemo/ IKBKG	Decreased	Decreased	Normal ordecreased
PNP deficiency	Normal Blymphocyte Normal or decreased immunoglobulins	Progressive decrease in T lymphocytes	Neutropenia
Ca++channel deficiency	Normal	Normal	Neutropenia