IDR Fact files

Abbreviation Explanation Link
AAAAI American Academy of Allergy, Asthma & Immunology AAAAI
AARDA The American Autoimmune Related Diseases Association AARDA
ABCB3 ATP-Binding Cassette, Subfamily B, Member 3 ABCB3
ACAAI American College of Allergy, Asthma, and Immunology ACAAI
ADA Adenosine deaminase ADA
AR Autosomal recessive AR
ARTEMIS Artemis protein ARTEMIS
ASCIA Australasian Socienty of Clinical Immunology and Allergy ASCIA
ASHI American Society for Histocompatibility and Immunogenetics ASHI
AT Ataxia Telengiectasia AT
ATM Ataxia telangiectasia mutated ATM
BLM Bloom syndrome BLM
BTK Bruton agammaglobulinemia tyrosine kinase BTK
C1NH complement component 1 inhibitor (angioedema, hereditary) C1NH
C1QA Complement component 1, q subcomponent, alpha polypeptide C1QA
C1QB Complement component 1, q subcomponent, beta polypeptide C1QB
C1QG Complement component 1, q subcomponent, gamma polypeptide C1QG
C1R Complement component 1, r subcomponent C1R
C1S Complement component 1, s subcomponent C1S
C2 Complement component 2 C2
C3 Complement component 3 C3
C4A Complement component 4A C4A
C4B Complement component 4B C4B
C5 Complement component 5 C5
C6 Complement component 6 C6
C7 Complement component 7 C7
C8A Complement component 8, alpha polypeptide C8A
C8B Complement component 8, beta polypeptide C8B
C9 Complement component 9 C9
CD3E CD3E antigen, epsilon polypeptide (TiT3 complex) CD3E
CD3G CD3G antigen, gamma polypeptide (TiT3 complex) CD3G
CD40L Tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) CD40L
CD40LG Tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) CD40LG
CD8A CD8 antigen, alpha polypeptide (p32) CD8A
CHS1 Chediak-Higashi syndrome 1 CHS1
CID Combined immunodeficiencies CID
CIITA MHC2TA (MHC class II transactivator) CIITA
CSACI Canadian Society of Allergy and Clinical Immunology CSACI
CVI Common variable immunodeficiency CVI
CVID Common variable immunodeficiency CVID
CYBA Cytochrome b-245, alpha polypeptide CYBA
CYBB Cytochrome b-245, beta polypeptide (chronic granulomatous disease) CYBB
DF D component of complement (adipsin) DF
DGCR DiGeorge syndrome chromosome region DGCR
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta DNMT3B
DSHP SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) DSHP
EBV Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) EBV
EFIS European Federation of Immunological Societies EFIS
ESID European Society for Immunodeficiencies ESID
FAA Fanconi anemia, complementation group H FAA
FAC Fanconi anemia, complementation group C FAC
FAIS The Federation of African Immunological Societies FAIS
FIMSA Federation of Immunological Societies of Asia-Oceania FIMSA
HF1 H factor 1 (complement) HF1
HIM Hyper-IgM Syndrome HIM
ICF Immunodeficiency-centromeric instability-facial anomalies syndrome ICF
IDR The Immunodeficiency Resource IDR
IF I factor (complement) IF
IFNGR1 Interferon gamma receptor 1 IFNGR1
IFNGR2 Interferon gamma receptor 2 (interferon gamma transducer 1) IFNGR2
IGAD1 Immunoglobulin A (IgA) deficiency susceptibility 1 IGAD1
IGHG1 Immunoglobin heavy constant gamma 1 (G1m marker) IGHG1
IGHG2 Immunoglobin heavy constant gamma 2 (G2m marker) IGHG2
IGHG3 Immunoglobin heavy constant gamma 3 (G3m marker) IGHG3
IGHG4 Immunoglobin heavy constant gamma 4 (G4m marker) IGHG4
IGKC Immunoglobulin kappa constant IGKC
IL12B Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) IL12B
IL12RB Interleukin 12 receptor, beta 1 IL12RB
IL2RG Interleukin 2 receptor, gamma (severe combined immunodeficiency IL2RG
IL7R Interleukin 7 receptor IL7R
IPOPI International Patient Organisations for Patients with Primary Immunodeficiencies IPOPI
IRIS Immuno-déficience héréditaire : Recherche, Information,Soutien IRIS
ITAM Immunoreceptor tyrosine-based activation motif ITAM
ITGB2 Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) ITGB2
IUIS International Union of Immunological Societies IUIS
IgA Immunoglobulin A IgA
IgE Immunoglobulin E IgE
IgG Immunoglobin gamma IgG
IgM Immunoglobulin M IgM
JAK3 Janus kinase 3 (a protein tyrosine kinase, leukocyte) JAK3
LAD Leukocyte Adhesion Deficiency, Type I LAD
LAGID Latin American group for primary immunodeficiencies LAGID
MHC Major histocompatibility complex MHC
MHC2TA MHC class II transactivator MHC2TA
NCF1 Neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1) NCF1
NCF2 Neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) NCF2
NP Nucleoside phosphorylase NP
OMIM Immunodeficiencies by Online Mendelian Inheritance in Man OMIM
PAGID Pan American Group for Immunodeficiency PAGID
PFC Properdin P factor, complement PFC
PH Synonym for ADAM1,SPAM1 PH
PIA Primary Immunodeficiency Association PIA
PID Primary immune deficiencies PID
PIO Primary Immunodeficiency Organisation PIO
PNP Purine nucleoside phosphorylase PNP
PRF1 Perforin 1 (preforming protein) PRF1
PTPRC Protein tyrosine phosphatase, receptor type, C PTPRC
RAC2 Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) RAC2
RAG1 Recombination activating gene 1 RAG1
RAG2 Recombination activating gene 2 RAG2
RF Replication protein A1 (70kD) RF
RFX Regulatory factor X RFX
RFX5 Regulatory factor X, 5 (influences HLA class II expression) RFX5
RFXANK Regulatory factor X-associated ankyrin-containing protein RFXANK
RFXAP Regulatory factor X-associated protein RFXAP
SAP Serum Amyloid P SAP
SCID Severe combined immunodeficiencies SCID
SH2 Src homology (SH) 2 domain SH2
SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) SH2D1A
SH3 Src homology (SH) 3 domain SH3
SLAM Signaling lymphocytic activation molecule SLAM
STAT Signal transducers and activators of a transcription STAT
TAP2 Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) TAP2
TCR T cell receptor TCR
TH Tyrosine hydroxylase TH
TNF Tumor necrosis factor TNF
WAS Wiskott-Aldrich syndrome WAS
WASP Wiskott-Aldrich syndrome protein WASP
X-CGD X-linked chronic granulomatous disease X-CGD
XHIM X-linked hyper IgM Syndrome XHIM
XLA Agammaglobulinemia, X-Linked XLA
XLP Lymphoproliferative syndrome, x-linked XLP
XSCID Severe combined immunodeficiency, x-linked XSCID
ZAP70 Zeta-chain (TCR) associated protein kinase (70 kD) ZAP70