genetic immunodeficiencies
Image Gallery
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
- 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
See also
autosomal dominant primary immunodeficiencies (ADPID)
References
Maródi L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol. 2007 Nov;7(11):851-61. Review. PMID: 17960151
Blomberg KE, Smith CI, Lindvall JM. Gene expression signatures in primary immunodeficiencies: the experience from human disease and mouse models. Curr Mol Med. 2007 Sep;7(6):555-66. PMID: 17896992
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