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X-linked agammaglobulinaemia (XLA or Bruton's Disease)
(N.B. Autosomal recessive and sporadic variants of this condition
are observed)
Common Variable Immunodeficiency (CVID)
- associated with thymoma Hyper IOgM Syndrome
- associated with transcobalamin II deficiency
Transient hypogammaglobulinaemia of infancy
Note
- The above conditions are often lumped together under
the name 'hypogammaglobulinaemia' (less often, 'agammaglobulinaemia').
- Many listings would not include transient hypogammaglobulinaemia
of infancy, as it is poorly defined and not a true primary
fault (simply slower maturation), as are the other conditions.
Single immunoglubulin class deficiency (includes selective
IgA deficiency)
Immunoglobulin Light Chain deficiency
Selective IgG sub-class deficiencies
Functional antibody deficiency
(inability to make antibody to specific micro-organisms with
immune system otherwise seemingly intact)
Cell Mediated (T Cell) and Combined Immunodeficiencies
Adenosine Deaminase Deficiency (ADA)
Ataxia Telangiectasia
Chronic Mucocutaneous Candidiasis
Deficiency of HLA expression
DiGeorge Anomaly (Thymic aplasia)
Duncan's Syndrome (X-Linked Lymphoproliferative Syndrome
(XLP) or Purtillo's Syndrome)
Immunodeficiency Centromeric Instabilities and Facial
Anomalies (ICF)
Interleukin deficiency
X-linked severe combined immunodeficiency
(Interleukin 2 receptor gamma chain deficiency, autosomal
recessive and sporadic variants of this condition occur)
Omenn's Syndrome
Purine Nucleoside Phosphorylase deficiency (PNP)
Reticular Dysgenesis
SCID
Autosomal recessive Severe Combined Immunodeficiency
Short Limbed Dwarfism
Cell Mediated (T Cell) and Combined Immunodeficiencies
T-cell receptor signalling defect
Wiskott-Aldrich Syndrome
Complement Deficiencies
C1q, C1r, C1s to C9 deficiencies
(each a separate condition)
C1 esterase inhibitor deficiency
Properdin deficiency
Factor B deficiency
Factor D deficiency
Complement receptor deficiencies
Neutrophil Disorders
Chediak Higashi Syndrome
Chronic Granulomatous Disease
(X-linked and autosomal variants occur)
Neutropenia:
- Congenital (Kostmann's disease)
- Cyclical
Leukocyte adhesion defect:
- LAD I deficiency
- LAD II deficiency
Immunodeficiency with partial Albinism
Hyper IgE Syndrome (Job's Syndrome)
Congenital asplenia
12.96 PIDLIS
e-mail: info@pia.org.uk
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