IMMUNODEFICIENCY STATE

(IMMUNOSUPPRESSION)

immunoglobulin deficiency (defects in humoral immunity)

1� immunoglobulin deficiency:

Bruton's agammaglobulinaemia (X-linked recessive)

transient hypogammaglobulinaemia in childhood

late-onset 1� hypogammaglobulinaemia

functional antibody deficiency (normal numbers of T and B lymphocytes)

thymoma + hypogammaglobulinaemia

isolated IgA deficiency

isolated IgG subclass deficiencies

isolated IgM deficiency

IgG and IgA deficiency with raised IgM

2� immunoglobulin deficiency:

premature babies

uraemia and other sever metabolic disturbances (abnormal protein synthesis)

drugs, eg. phenytoin, penicillamine, diazoxide

severe nephrotic syndrome (loss in urine)

thoracic duct fistula

paroxysmal nocturnal haemoglobinuria

dystrophia myotonica

deficient cellular immunity

defective T lymphocyte function:

thymic aplasia (normal parathyroids in Nezelof syndrome; with hypoparathyroidism in DiGeorge's syndrome)

severe combined immunodeficiency ('SCID') [Swiss type immunodeficiency; decreased T and B lymphocytes; no specific Ig production]

purine nucleoside phosphorylase deficiency (� abnormal red cells)

ataxia-telangiectasia [autosomal recessive; IgA deficiency + cerebellar ataxia + oculo-cutaneous telangiectasia]

Wiscott-Aldrich syndrome [X-linked recessive; ?faulty antigen presentation by macrophages; thrombocytopaenia + eczema; absent antibody production against polysaccharide antigens]

Bloom's syndrome [low Ig levels; lymphomas occur]

defective phagocyte function:

Job's syndrome [defective neutrophil chemotaxis; raised IgE]

chronic granulomatous disease [X-linked; impaired intracellular killing of catalase positive organisms by PMN's]

Chédiak-Higashi syndrome [associated with albinism; impaired killing due to defective neutrophil lysosomal formation]

myeloperoxidase deficiency [autosomal recessive; neutrophil and monocyte myeloperoxidase low or absent]

complement deficiencies

C1 esterase inhibitor deficiency [hereditary angio-oedema; autosomal dominant]

C1q deficiency [discoid lupus]

C1q, C1r, C4 or C2 deficiency [increased risk of immune-complex vasculitis]

C3 or C3b inhibitor deficiency [associated with Klinefelter's syndrome; causes exhaustion of alternative pathway]

C5, C6, C7 or C8 deficiency [recurrent Neisseria infections]

causes of 2� immunodeficiency (various mechanisms involved)

diabetes mellitus

HIV infection (CD4 cells affected)

sarcoidosis

lymphomas

hyposplenism / splenectomy

following leprosy, tuberculosis or measles

severe malnutrition

extremes of age

any severe intercurrent illness

drugs, especially steroids and cytotoxics

radiation

click here to return to the main contents page of Differential Diagnoses in General Medicine

Hosted by www.Geocities.ws

1