genetic immunodeficiencies
congenital immunodeficiencies, primary immunodeficiencies, constitutional immunodeficiencies
Types
predominant antibody deficiencies
- X-linked agammaglobulinemia (Bruton agammaglobulinemia)
- hyper-IgM syndrome
- X-linked hyper-IgM syndrome
- autosomal hyper-IgM syndrome
- Ig heavy-chain gene deletion
- kappa-chain deficiency
- selective deficiencies of IgG subclasses (+/- IgA deficiency)
- antibody deficiency with normal immunoglobulins
- common variable immunodeficiency (CVID)
- IgA deficiency
- transient hypogammaglobulinemia of infancy
combined immunodeficiencies
- severe combined immunodeficiencies (SCIDs)
- X-linked SCID
- autosomal SCID
- ADA deficiency (adenosine deaminase deficiency)
- PNP deficiency (purine nucleoside phosphorylase deficiency)
- MHC class II deficiency
- reticular dysgenesis
- CD3gamma deficiency
- CD8 deficiency
- CD4 deficiency
- CD7 deficiency
- IL-2 deficiency
- multiple cytokine deficiency
- signal transduction deficiency
immunodeficiency syndrome-associated phenotypic anomalies
- Wiskott-Aldrich syndrome
- ataxia-telangiectasia
- DiGeorge anomaly
phagocytic function diseases (defects in phagocytes)(#11106721#)
-
genetic granulocytic diseases
-
chronic granulomatous diseases (CGDs)
- X-linked chronic granulomatous disease
- autosomal chronic granulomatous disease
-
chronic granulomatous diseases (CGDs)
CD18 deficiency (LFA1 deficiency) (type 1 leukocyte adhesion defect)
type 2 leukocyte adhesion deffect (GDP mannose conversion to fucose deficiency)
- neutrophilic G6PD deficiency
- myeloperoxidase deficiency
- secondary granule deficiency
- Schwachman disease deficiency
- Chediak-Higashi disease
complement deficiencies
- C1q deficiency
- C1r deficiency
- C4 deficiency
- C2 deficiency
- C3 deficiency
- C5 deficiency
- C6 deficiency
- C7 deficiency
- C8alpha deficiency
- C8 gamma deficiency
- C8beta deficiency
- C9 deficiency
- Ci inhibitor deficiency
- factor I deficiency
- factor H deficiency
- factor D deficiency
- properdin deficiency
immunodeficiency associated with other diseases (secondary immunodeficiencies)
- Bloom syndrome
- Fanconi anemia
- ICF syndrome
- Nijmegen breakage syndrome
- Seckel syndrome
- Xeroderma pigmentosum
immunodeficiency with chromosomal disease
- trisomy 21 (Down syndrome)
- Turner syndrome
- chromosome 18 rings and deletions
immunodeficiency with constitutional skeletal diseases
- short-limbed skeletal dysplasia
- cartilage-hair dysplasia
immunodeficiency with generalized growth retardation
- Schimke immuno-osseous dysplasia
- immunodeficiency with absent thumbs
- Dubowitz syndrome
- growth retardation, facial anomalies and immunodeficiency
- progeria (Hutchinson-Gilford syndrome)
immunodeficiency with skin diseases
- partial albinism
- dyskeratosis congenita
- Netherton disease
- acrodermatitis enteropathica
- anhidrotic ectodermal dysplasia
- Papillon-Lefevre syndrome
immunodeficiency with hereddtary metabolic diseases
- transcobalamin 2 deficiency
- methylmalonic acidemia
- type 1 hereditary orotic aciduria
- blotin-dependent carboxylase deficiency
- mannosidosis
- type 1b glycogen storage disase (GSD1b)
increased immunoglobulin loss
- familial hypercatabolism
- intestinal lymphangiectasias
miscellaneous
- Hyper-IgE syndrome
- chronic mucocutaneous candidiasis
- congenital hyposplenia and asplenia
- Ivemark synrome
References
Lim MS, Elenitoba-Johnson KS. The molecular pathology of primary immunodeficiencies. J Mol Diagn. 2004 May;6(2):59-83 . PMID: #15096561#
Lekstrom-Himes JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med. 2000 Dec 7;343(23):1703-14. PMID: #11106721#
Buckley RH. Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med. 2000 Nov 2;343(18):1313-24. PMID: #11058677#
Elenitoba-Johnson KS, Jaffe ES. Lymphoproliferative disorders associated with congenital immunodeficiencies. Semin Diagn Pathol. 1997 Feb;14(1):35-47. PMID: #9044508#
Huber J, Zegers BJ, Schuurman HJ. Pathology of congenital immunodeficiencies. Semin Diagn Pathol. 1992 Feb;9(1):31-62. PMID: #1561487#
Primary immunodeficiencies and maturation of T and B Lymphocytes. -
From N Engl J Med. 1995 Aug 17;333(7):431-40
Progenitor cells derived from hematopoietic stem cells enter the thymus and undergo several stages of maturation, during which the and chains of the T-cell receptor and the five chains of CD3 are expressed.1 Immature T cells transiently express both CD4 and CD8. The interaction of CD4 with MHC class II molecules or of CD8 with MHC class I molecules on thymic stromal cells is instrumental in determining whether the cells will survive to become mature CD4+ or CD8+ T cells.2
Lymphoid progenitor B cells interact with neighboring stromal cells in bone marrow to give rise to a population of pre-B cells.3 Pre-B cells first express µ heavy chains in their cytoplasm and then an IgM-receptor complex. The transmembrane immunoglobulin and signal-transduction unit, which is analogous to T-cell CD3, is also expressed.4 The pre -B cells subsequently express and light chains to become IgM-bearing mature B cells committed to an antibody specificity that they and their mature plasma-cell progeny will produce.5 On leaving the bone marrow, IgM-bearing B cells acquire surface IgD. These mature B cells can respond positively to an antigen and to help from CD4 T cells by undergoing proliferation and differentiation; ultimately, they secrete antibody of all the immunoglobulin classes.
The red bars indicate where maturation is blocked in autosomal recessive and X-linked severe combined immunodeficiency, X-linked agammaglobulinemia, MHC class I and II deficiencies, and the hyper-IgM syndrome.
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