Table 2.
Genetic defects leading to primary immunodeficiency diseases
| Chromosome | Primary immunodeficiency disease |
|---|---|
| Humoral immunodeficiency disorders | |
| X-linked agammaglobulinemia (XLA) and agammaglobulinemia | |
| 10q23.2-q23.33 | Agammaglobulinemia due to BLNK deficiency |
| 19p13.2 | Agammaglobulinemia caused by mutations in Iga gene |
| 22q11.2 | Agammaglobulinemia caused by mutations in λ5 surrogate light- chain gene |
| Xq22 | XLA caused by Bruton tyrosine kinase (Btk) deficiency |
| Common variable immunodeficiency (CVID) | |
| 2q33 | Autosomal recessive CVID due to ICOS deficiency |
| 6p21.3 | (?) CVID and selective IgA deficiency |
| 16p11.2 | CVID due to CD19 deficiency |
| 17p11.2 | CVID or selective IgA deficiency due to TACI deficiency |
| 22q13.1-q13.3 | CVID due to BAFF-R deficiency |
| Hyper-IgM syndrome | |
| 12 | Hyper-IgM caused by deficiency of uracil-DNA glycosylase |
| 12p13 | Hyper-IgM caused by deficiency of activation-induced cytidine deaminase |
| 20q12-q13.2 | Hyper-IgM due to CD40 deficiency |
| Xq26 | Hyper-IgM caused by CD154 (CD40 ligand) deficiency |
| Primary cellular and combined immunodeficiency disorders | |
| Severe combined immunodeficiency (SCID) | |
| 1q22-q25 | SCID due to CD3 δ-chain deficiency |
| 1q31-q32 | SCID due to CD45 deficiency |
| 5p13 | SCID or Omenn syndrome due to IL-7 receptor α-chain deficiency |
| 10p13 | SCID (Athabascan, radiation sensitive) due to mutations in the Artemis gene |
| 11p13 | SCID or Omenn syndrome caused by RAG-1 or RAG-2 deficiencies |
| 11q23 | SCID or non-SCID due to CD3 γ- δ-, or ε- chain deficiencies |
| 19p13.1 | SCID due to Janus kinase 3 (Jak3) deficiency |
| 20q13.2-q13.11 | SCID due to adenosine deaminase (ADA) deficiency |
| Xq13.1-q13.3 | X-linked SCID due to common γ-chain (γc) deficiency |
| 2q35 | CID with microcephaly due to Cernunnos deficiency |
| DiGeorge anomaly | |
| 10p13 | DiGeorge anomaly/velocardiofacial syndrome |
| 22q11.2 | DiGeorge anomaly/velocardiofacial syndrome |
| Combined immunodeficiency disorders | |
| Xp11.22 | Wiskott-Aldrich syndrome (WAS) caused by WAS protein (WASP) deficiency |
| 9p13 | Cartilage-hair hypoplasia due to deficiency of RNA component of mitochondrial RNA-processing endoribonuclease |
| 11q22.3 | Ataxia-telangiectasia (AT), attributable to AT mutation, causing deficiency of DNA-dependent kinase |
| 14q13.1 | Purine nucleoside phosphorylase (PNP) deficiency |
| Disorders of phagocytic cells and adhesion molecules | |
| Leukocyte adhesion deficiency (LAD) | |
| 21q22.3 | LAD type 1 (LAD-1) caused by CD18 deficiency |
| 11q14.3-q21 | LAD-2 due to deficiency of sialyl LewisX |
| Interferon-gamma (IFN-γ) and interleukin-12 (IL-12) pathway defects | |
| 5q31.1-q33.1 | IL-12 p40 deficiency |
| 19p13.1 | IL-12R β-chain deficiency |
| 6q23-q24 | IFN-γ receptor 1 deficiency due to α-chain deficiency |
| 21q22.1-q22.2 | IFN-γ receptor 2 deficiency due to β-chain deficiency |
| Chronic granulomatous disease (CGD) | |
| 1q25 | CGD caused by gp67phox deficiency |
| 7q11.23 | CGD caused by gp47phox deficiency |
| 16q24 | CGD caused by gp22phox deficiency |
| Xp21.1 | CGD caused by gp91phox deficiency |
BLNK B-cell linker, CID combined immunodeficiency disorder, DNA deoxyribonucleic acid, gp gene product, ICOS inducible T-cell co-stimulator, IFN interferon, Ig immunoglobulin, IL interleukin, phox phagocytic oxidase, RAG recombination-activating gene, RNA ribonucleic acid, TACI transmembrane activator and CAML (calcium-modulator and cyclophilin ligand) interactor