Antibody deficiency with normal or elevated immunoglobulins
Some individuals who have recurrent or severe infections have normal or high immunoglobulin levels but do not produce antibodies to either protein or polysaccharide vaccine antigens.
Immunoglobulin heavy chain deficiencies
People with deletions of multiple genes in the immunoglobulin heavy chain region can be asymptomatic or can exhibit susceptibility to infections.
Kappa light chain deficiency
Kappa light chain deficiency is a rare autosomal recessive antibody deficiency.
Constitutional mismatch repair deficiency
Constitutional mismatch repair deficiency (CMMRD) describes several disorders that lead to childhood-onset cancer. CMMRD caused by variants in the PMS2 gene also leads to immune deficiency.
Transcobalamin II deficiency
Transcobalamin II deficiency is a rare autosomal recessive type of primary immunodeficiency.
Unspecified hypogammaglobulinemia
Unspecified hypogammaglobulinemia refers to individuals who have low serum immunoglobulins but do not fit the diagnostic criteria of defined antibody deficiencies like common variable immune deficiency (CVID).
Veno-occlusive disease with immunodeficiency
Patients with veno-occlusive disease with immunodeficiency (VODI) have a predisposition to fungal infections, low platelet counts, and enlarged livers.
X-linked lymphoproliferative (XLP) syndromes 1 and 2
XLP is characterized by life-long vulnerability to Epstein-Barr virus (EBV) infection, which can lead to severe and fatal infectious mononucleosis, lymph node cancers (lymphomas), and combined immunodeficiency.
Chronic mucocutaneous candidiasis (CMC)
Chronic mucocutaneous candidiasis (CMC) is characterized by persistent Candida (fungus) infections of the mucous membranes, scalp, skin, and nails.
