Page last updated: 2024-09-27

HIGM2 Syndrome

Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 ANTIGEN.

Synonyms(18)

Synonym
HIGM2 Syndrome
Hyper-IgM Immunodeficiency Syndrome Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Syndrome 5
HIGM3 Syndrome
Immunodeficiency with Hyper-IgM, Type 2
Hyper-IgM Immunodeficiency Syndrome
Immunodeficiency with Hyper-IgM, Type 5
Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome Type 3
Immunodeficiency with Hyper-IgM Syndrome
Hyper-IgM Immunodeficiency Syndrome Type 5
HIGM5 Syndrome
Immunodeficiency with Hyper-IgM, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 5
Hyper-IgM Syndrome
Hyper-IgM Syndrome 2
Hyper-IgM Syndrome 3

Research

Studies (12)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's4 (33.33)18.1394
2010's4 (33.33)28.8240
2020's4 (33.33)9.53
DrugIndicatedRelationship StrengthStudiesTrials
carbamates0low10
azathioprine0low10
busulfan0low10
fluconazole0low10
prednisolone0low10
prednisone0low10
valine0low10
silver nitrate0low10
ribavirin0low10
itraconazole0low10
proline0low10
paromomycin0low10
trimethoprim, sulfamethoxazole drug combination0low10
zithromax0low10
amphotericin b0low10
bms-7900520low10
transforming growth factor beta0low10
acyclovir0low10

Protein Targets (306)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain E, Purine nucleoside phosphorylase0101
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Ferritin light chain2002
Thymidine kinase 0101
thioredoxin reductase2002
phosphopantetheinyl transferase3003
GLS protein2002
TDP1 protein7007
Smad31001
thyroid stimulating hormone receptor4004
EWS/FLI fusion protein4004
arylsulfatase A3003
euchromatic histone-lysine N-methyltransferase 22002
activating transcription factor 63003
Histone H2A.x3003
Bloom syndrome protein isoform 12002
hemoglobin subunit beta2002
atrial natriuretic peptide receptor 1 precursor1001
ubiquitin carboxyl-terminal hydrolase 2 isoform a2002
lamin isoform A-delta108008
Solute carrier family 22 member 1 0001
ATP-binding cassette sub-family C member 30707
Multidrug resistance-associated protein 40707
Solute carrier family 22 member 60001
Bile salt export pump0202
Bile salt export pump0808
Purine nucleoside phosphorylase0101
Thymidine kinase, cytosolic0001
POU domain, class 2, transcription factor 20001
Cytochrome P450 2C9 0506
Cytochrome P450 2J20202
Disintegrin and metalloproteinase domain-containing protein 172002
Purine nucleoside phosphorylase0011
Solute carrier family 22 member 60001
Thymidine kinase 0101
Solute carrier family 22 member 80001
Canalicular multispecific organic anion transporter 10707
Thymidine kinase0101
Chain A, Cruzipain1001
interleukin 84004
glucocorticoid receptor [Homo sapiens]6006
farnesoid X nuclear receptor4004
peroxisome proliferator-activated receptor delta3003
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
tumor necrosis factor1001
vitamin D3 receptor isoform VDRA2002
nuclear factor erythroid 2-related factor 2 isoform 17007
peripheral myelin protein 222002
Cytochrome P450 1A20203
Cytochrome P450 3A40405
Cytochrome P450 2D60203
Cytochrome P450 2C190101
Nuclear receptor ROR-gamma5005
Potassium voltage-gated channel subfamily H member 20202
Aurora kinase B0101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
acetylcholinesterase2002
RAR-related orphan receptor gamma4004
SMAD family member 21001
ATAD5 protein, partial1001
Fumarate hydratase2002
SMAD family member 31001
GLI family zinc finger 36006
Microtubule-associated protein tau1001
AR protein5005
thioredoxin glutathione reductase2002
nuclear receptor subfamily 1, group I, member 34004
retinoic acid nuclear receptor alpha variant 18008
retinoid X nuclear receptor alpha5005
estrogen-related nuclear receptor alpha7007
pregnane X nuclear receptor7007
estrogen nuclear receptor alpha8008
G3003
polyprotein2002
P531001
peroxisome proliferator activated receptor gamma2002
IDH12002
aryl hydrocarbon receptor3003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a4004
thyroid stimulating hormone receptor2002
v-jun sarcoma virus 17 oncogene homolog (avian)3003
peripheral myelin protein 22 isoform 12002
cellular tumor antigen p53 isoform a1001
thyroid hormone receptor beta isoform 26006
heat shock protein beta-12002
DNA polymerase iota isoform a (long)2002
geminin5005
survival motor neuron protein isoform d2002
cytochrome P450 3A4 isoform 14004
M-phase phosphoprotein 81001
muscleblind-like protein 1 isoform 11001
muscarinic acetylcholine receptor M12002
Gamma-aminobutyric acid receptor subunit pi4004
Voltage-dependent calcium channel gamma-2 subunit4004
Interferon beta6006
HLA class I histocompatibility antigen, B alpha chain 3003
Cellular tumor antigen p536006
Gamma-aminobutyric acid receptor subunit beta-14004
Gamma-aminobutyric acid receptor subunit delta4004
Gamma-aminobutyric acid receptor subunit gamma-24004
Glutamate receptor 24004
Gamma-aminobutyric acid receptor subunit alpha-54004
Gamma-aminobutyric acid receptor subunit alpha-34004
Gamma-aminobutyric acid receptor subunit gamma-14004
Gamma-aminobutyric acid receptor subunit alpha-24004
Gamma-aminobutyric acid receptor subunit alpha-44004
Gamma-aminobutyric acid receptor subunit gamma-34004
Gamma-aminobutyric acid receptor subunit alpha-64004
Gamma-aminobutyric acid receptor subunit alpha-14004
Gamma-aminobutyric acid receptor subunit beta-34004
Gamma-aminobutyric acid receptor subunit beta-24004
GABA theta subunit4004
Inositol hexakisphosphate kinase 13003
ATPase family AAA domain-containing protein 52002
Ataxin-23003
Gamma-aminobutyric acid receptor subunit epsilon4004
Protein-arginine deiminase type-40202
cytochrome P450 2C9, partial3003
PPM1D protein2002
5-hydroxytryptamine receptor 1A0101
Spike glycoprotein2013
Nonstructural protein 5A 0112
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase1001
15-lipoxygenase, partial1001
apical membrane antigen 1, AMA12002
aldehyde dehydrogenase 1 family, member A13003
cytochrome P450 family 3 subfamily A polypeptide 46006
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
lethal factor (plasmid)2002
Matrix metalloproteinase-90101
Chain A, BCL-2-RELATED PROTEIN A10011
cytochrome P450 2D61001
unnamed protein product0101
chromobox protein homolog 13003
transcriptional regulator ERG isoform 31001
heat shock protein HSP 90-alpha isoform 20001
bcl-2-like protein 11 isoform 10011
Histone deacetylase 30101
Rap guanine nucleotide exchange factor 32002
Chymotrypsinogen A0101
Beta-lactamase0101
Steroid 17-alpha-hydroxylase/17,20 lyase0101
Heme oxygenase 1 0101
ATP-dependent translocase ABCB10101
ATP-dependent translocase ABCB10101
Lanosterol 14-alpha demethylase0112
Aromatase0101
Cytochrome P450 11B1, mitochondrial0101
Cytochrome P450 11B2, mitochondrial0101
ATP-dependent translocase ABCB10101
Heme oxygenase 20101
Malate dehydrogenase, cytoplasmic0101
Histone deacetylase 40101
Cytochrome P450 1440022
Steroid C26-monooxygenase0022
Steroid C26-monooxygenase0022
Mycocyclosin synthase0011
Lanosterol 14-alpha demethylase0011
Lanosterol 14-alpha demethylase0011
TAR DNA-binding protein 432002
Histone deacetylase 10101
Lanosterol 14-alpha demethylase0112
Sterol 14-alpha demethylase0011
Sterol 14-alpha demethylase0112
Histone deacetylase 70101
Histone deacetylase 20101
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
14-alpha sterol demethylase 0011
Histone deacetylase 80101
Histone deacetylase 60101
Histone deacetylase 90101
Histone deacetylase 50101
heat shock protein 90, putative0001
likely tRNA 2'-phosphotransferase0101
hypoxia-inducible factor 1 alpha subunit2002
GALC protein1001
estrogen receptor 2 (ER beta)2002
30S ribosomal protein S60202
30S ribosomal protein S70202
50S ribosomal protein L150202
50S ribosomal protein L100202
50S ribosomal protein L110202
50S ribosomal protein L7/L120202
50S ribosomal protein L190202
50S ribosomal protein L10202
50S ribosomal protein L200202
50S ribosomal protein L270202
50S ribosomal protein L280202
50S ribosomal protein L290202
50S ribosomal protein L310202
50S ribosomal protein L31 type B0202
50S ribosomal protein L320202
50S ribosomal protein L330202
50S ribosomal protein L340202
50S ribosomal protein L350202
50S ribosomal protein L360202
30S ribosomal protein S100202
30S ribosomal protein S110202
30S ribosomal protein S120202
30S ribosomal protein S130202
30S ribosomal protein S160202
30S ribosomal protein S180202
30S ribosomal protein S190202
30S ribosomal protein S200202
30S ribosomal protein S20202
30S ribosomal protein S30202
30S ribosomal protein S40202
30S ribosomal protein S50202
30S ribosomal protein S80202
30S ribosomal protein S90202
50S ribosomal protein L130202
50S ribosomal protein L140202
50S ribosomal protein L160202
50S ribosomal protein L230202
30S ribosomal protein S150202
50S ribosomal protein L170202
50S ribosomal protein L210202
50S ribosomal protein L300202
50S ribosomal protein L60202
30S ribosomal protein S140202
30S ribosomal protein S170202
30S ribosomal protein S10202
50S ribosomal protein L180202
50S ribosomal protein L20202
50S ribosomal protein L30202
50S ribosomal protein L240202
50S ribosomal protein L40202
50S ribosomal protein L220202
50S ribosomal protein L50202
30S ribosomal protein S210202
50S ribosomal protein L250202
50S ribosomal protein L36 20202
Tyrosyl-DNA phosphodiesterase 10101
luciferase0001
progesterone receptor2002
nuclear receptor subfamily 1, group I, member 22002
nuclear factor erythroid 2-related factor 2 isoform 23003
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor04211
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10404
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Glutamine synthetase0011
Androgen receptor0101
Glycine receptor subunit beta0404
Glycine receptor subunit alpha-20404
Glycine receptor subunit alpha-30404
Histamine H1 receptor0011
Prostaglandin G/H synthase 20101
Nociceptin receptor0011
Estrogen receptor beta0202
pregnane X receptor1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
nuclear receptor ROR-gamma isoform 11001
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Glutamate receptor ionotropic, NMDA 1 0101
Neutral amino acid transporter A0101
Neutral amino acid transporter B(0)0101
Proton-coupled amino acid transporter 10101
Amino acid transporter0101
NS5 0011
Thrombopoietin1001
alpha-galactosidase1001
Spike glycoprotein0011
Replicase polyprotein 1ab0011
glycogen synthase kinase-3 beta isoform 10011
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
Transmembrane protease serine 20011
Voltage-dependent L-type calcium channel subunit alpha-1F0101
Polymerase basic protein 20011
RNA-directed RNA polymerase catalytic subunit0011
Polymerase acidic protein0011
Procathepsin L0011
Replicase polyprotein 1a0011
Replicase polyprotein 1ab0011
Replicase polyprotein 1ab0011
Adenosine receptor A30101
Replicase polyprotein 1ab0011
Adenosylhomocysteinase0002
Adenosine receptor A2a0101
Adenosine receptor A10101
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Adenosine receptor A10101
Genome polyprotein0011
Angiotensin-converting enzyme 2 0011
Chain A, Arginase 10101
Large neutral amino acids transporter small subunit 10101
glp-1 receptor, partial1001
streptokinase A precursor0011
twin arginine protein translocation system - TatA protein0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]