KEGG PATHWAY: ko05340

PATHWAY: ko05340

Entry

ko05340                     Pathway

Name

Primary immunodeficiency

Description

Primary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells such as phagocytes and natural killer (NK) cells. These disorders of the immune system cause increased susceptibility to infection, autoimmune disease, and malignancy. Most of PIs are due to genetic defects that affect cell maturation or function at different levels during hematopoiesis. Disruption of the cellular immunity is observed in patients with defects in T cells or both T and B cells. These cellular immunodeficiencies comprise 20% of all PIs. Disorders of humoral immunity affect B-cell differentiation and antibody production. They account for 70% of all PIs.

Class

Human Diseases; Immune disease

Pathway map

ko05340

Primary immunodeficiency

Disease

H01725

Primary immunodeficiency disease

Orthology

K01488

add, ADA; adenosine deaminase [EC:3.5.4.4]

K03160

TNFRSF5, CD40; tumor necrosis factor receptor superfamily member 5

K03161

TNFSF5, CD40L, CD154; tumor necrosis factor ligand superfamily member 5

K03648

UNG, UDG; uracil-DNA glycosylase [EC:3.2.2.27]

K05070

IL2RG, CD132; interleukin 2 receptor gamma

K05072

IL7R, CD127; interleukin 7 receptor

K05150

TNFRSF13B, TACI, CD267; tumor necrosis factor receptor superfamily member 13B

K05151

TNFRSF13C, BAFFR, CD268; tumor necrosis factor receptor superfamily member 13C

K05653

ABCB2, TAP1; ATP-binding cassette, subfamily B (MDR/TAP), member 2 [EC:7.4.2.14]

K05654

ABCB3, TAP2; ATP-binding cassette, subfamily B (MDR/TAP), member 3 [EC:7.4.2.14]

K05856

LCK; lymphocyte cell-specific protein tyrosine kinase [EC:2.7.10.2]

K06450

CD3D; T-cell surface glycoprotein CD3 delta chain

K06451

CD3E; T-cell surface glycoprotein CD3 epsilon chain

K06454

CD4; T-cell surface glycoprotein CD4

K06458

CD8A; T-cell surface glycoprotein CD8 alpha chain

K06459

CD8B; T-cell surface glycoprotein CD8 beta chain

K06465

CD19; B-lymphocyte antigen CD19

K06478

PTPRC, CD45; receptor-type tyrosine-protein phosphatase C [EC:3.1.3.48]

K06506

CD79A, IGA; CD79A antigen

K06554

IGLL1, IGLL, CD179b; immunoglobulin lambda-like polypeptide 1

K06713

ICOS, AILIM, CD278; inducible T-cell co-stimulator

K06856

IGH; immunoglobulin heavy chain

K07210

IKBKG, IKKG, NEMO; inhibitor of nuclear factor kappa-B kinase subunit gamma

K07360

ZAP70; tyrosine-protein kinase ZAP-70 [EC:2.7.10.2]

K07370

BTK; Bruton agammaglobulinemia tyrosine kinase [EC:2.7.10.2]

K07371

BLNK; B-cell linker protein

K08060

CIITA; MHC class II transactivator [EC:2.7.11.1]

K08061

RFX5; regulatory factor X 5

K08062

RFXANK; regulatory factor X-associated ankyrin-containing protein

K08063

RFXAP; regulatory factor X-associated protein

K10603

AIRE; autoimmune regulator

K10628

RAG1; V(D)J recombination-activating protein 1 [EC:2.3.2.27]

K10887

DCLRE1C, ARTEMIS, SCIDA; DNA cross-link repair 1C protein [EC:3.1.-.-]

K10988

RAG2; recombination-activating protein 2

K10989

AICDA, AID; activation-induced cytidine deaminase [EC:3.5.4.38]

K11218

JAK3; Janus kinase 3 [EC:2.7.10.2]

K16056

ORAI1; calcium release-activated calcium channel protein 1

Reference

PMID:16261175

Authors

Cunningham-Rundles C, Ponda PP.

Title

Molecular defects in T- and B-cell primary immunodeficiency diseases.

Journal

Nat Rev Immunol 5:880-92 (2005)
DOI:10.1038/nri1713

Reference

PMID:11941303

Authors

Ballow M.

Title

Primary immunodeficiency disorders: antibody deficiency.

Journal

J Allergy Clin Immunol 109:581-91 (2002)
DOI:10.1067/mai.2002.122466

Reference

PMID:17960151

Authors

Marodi L, Notarangelo LD.

Title

Immunological and genetic bases of new primary immunodeficiencies.

Journal

Nat Rev Immunol 7:851-61 (2007)
DOI:10.1038/nri2195

Reference

PMID:17952897

Authors

Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.

Title

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

Journal

J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053

Reference

PMID:18093537

Authors

Fischer A.

Title

Human primary immunodeficiency diseases.

Journal

Immunity 27:835-45 (2007)
DOI:10.1016/j.immuni.2007.11.012

Reference

PMID:14699405