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)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	0 (0.00)	12.5806
2000's	4 (33.33)	18.1394
2010's	4 (33.33)	28.8240
2020's	4 (33.33)	9.53

Drug	Relationship Strength	Studies
carbamates	low	1
azathioprine	low	1
busulfan	low	1
fluconazole	low	1
prednisolone	low	1
prednisone	low	1
valine	low	1
silver nitrate	low	1
ribavirin	low	1
itraconazole	low	1
proline	low	1
paromomycin	low	1
trimethoprim, sulfamethoxazole drug combination	low	1
zithromax	low	1
amphotericin b	low	1
bms-790052	low	1
transforming growth factor beta	low	1
acyclovir	low	1

Protein Targets (306)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain E, Purine nucleoside phosphorylase	0	1	0	1
Chain A, HADH2 protein	3	0	0	3
Chain B, HADH2 protein	3	0	0	3
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
Chain A, Ferritin light chain	2	0	0	2
Thymidine kinase	0	1	0	1
thioredoxin reductase	2	0	0	2
phosphopantetheinyl transferase	3	0	0	3
GLS protein	2	0	0	2
TDP1 protein	7	0	0	7
Smad3	1	0	0	1
thyroid stimulating hormone receptor	4	0	0	4
EWS/FLI fusion protein	4	0	0	4
arylsulfatase A	3	0	0	3
euchromatic histone-lysine N-methyltransferase 2	2	0	0	2
activating transcription factor 6	3	0	0	3
Histone H2A.x	3	0	0	3
Bloom syndrome protein isoform 1	2	0	0	2
hemoglobin subunit beta	2	0	0	2
atrial natriuretic peptide receptor 1 precursor	1	0	0	1
ubiquitin carboxyl-terminal hydrolase 2 isoform a	2	0	0	2
lamin isoform A-delta10	8	0	0	8
Solute carrier family 22 member 1	0	0	0	1
ATP-binding cassette sub-family C member 3	0	7	0	7
Multidrug resistance-associated protein 4	0	7	0	7
Solute carrier family 22 member 6	0	0	0	1
Bile salt export pump	0	2	0	2
Bile salt export pump	0	8	0	8
Purine nucleoside phosphorylase	0	1	0	1
Thymidine kinase, cytosolic	0	0	0	1
POU domain, class 2, transcription factor 2	0	0	0	1
Cytochrome P450 2C9	0	5	0	6
Cytochrome P450 2J2	0	2	0	2
Disintegrin and metalloproteinase domain-containing protein 17	2	0	0	2
Purine nucleoside phosphorylase	0	0	1	1
Solute carrier family 22 member 6	0	0	0	1
Thymidine kinase	0	1	0	1
Solute carrier family 22 member 8	0	0	0	1
Canalicular multispecific organic anion transporter 1	0	7	0	7
Thymidine kinase	0	1	0	1
Chain A, Cruzipain	1	0	0	1
interleukin 8	4	0	0	4
glucocorticoid receptor [Homo sapiens]	6	0	0	6
farnesoid X nuclear receptor	4	0	0	4
peroxisome proliferator-activated receptor delta	3	0	0	3
vitamin D (1,25- dihydroxyvitamin D3) receptor	2	0	0	2
tumor necrosis factor	1	0	0	1
vitamin D3 receptor isoform VDRA	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	7	0	0	7
peripheral myelin protein 22	2	0	0	2
Cytochrome P450 1A2	0	2	0	3
Cytochrome P450 3A4	0	4	0	5
Cytochrome P450 2D6	0	2	0	3
Cytochrome P450 2C19	0	1	0	1
Nuclear receptor ROR-gamma	5	0	0	5
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Aurora kinase B	0	1	0	1
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	1	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	1	0	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	2	0	0	2
acetylcholinesterase	2	0	0	2
RAR-related orphan receptor gamma	4	0	0	4
SMAD family member 2	1	0	0	1
ATAD5 protein, partial	1	0	0	1
Fumarate hydratase	2	0	0	2
SMAD family member 3	1	0	0	1
GLI family zinc finger 3	6	0	0	6
Microtubule-associated protein tau	1	0	0	1
AR protein	5	0	0	5
thioredoxin glutathione reductase	2	0	0	2
nuclear receptor subfamily 1, group I, member 3	4	0	0	4
retinoic acid nuclear receptor alpha variant 1	8	0	0	8
retinoid X nuclear receptor alpha	5	0	0	5
estrogen-related nuclear receptor alpha	7	0	0	7
pregnane X nuclear receptor	7	0	0	7
estrogen nuclear receptor alpha	8	0	0	8
G	3	0	0	3
polyprotein	2	0	0	2
P53	1	0	0	1
peroxisome proliferator activated receptor gamma	2	0	0	2
IDH1	2	0	0	2
aryl hydrocarbon receptor	3	0	0	3
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	4	0	0	4
thyroid stimulating hormone receptor	2	0	0	2
v-jun sarcoma virus 17 oncogene homolog (avian)	3	0	0	3
peripheral myelin protein 22 isoform 1	2	0	0	2
cellular tumor antigen p53 isoform a	1	0	0	1
thyroid hormone receptor beta isoform 2	6	0	0	6
heat shock protein beta-1	2	0	0	2
DNA polymerase iota isoform a (long)	2	0	0	2
geminin	5	0	0	5
survival motor neuron protein isoform d	2	0	0	2
cytochrome P450 3A4 isoform 1	4	0	0	4
M-phase phosphoprotein 8	1	0	0	1
muscleblind-like protein 1 isoform 1	1	0	0	1
muscarinic acetylcholine receptor M1	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	4	0	0	4
Voltage-dependent calcium channel gamma-2 subunit	4	0	0	4
Interferon beta	6	0	0	6
HLA class I histocompatibility antigen, B alpha chain	3	0	0	3
Cellular tumor antigen p53	6	0	0	6
Gamma-aminobutyric acid receptor subunit beta-1	4	0	0	4
Gamma-aminobutyric acid receptor subunit delta	4	0	0	4
Gamma-aminobutyric acid receptor subunit gamma-2	4	0	0	4
Glutamate receptor 2	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-5	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-3	4	0	0	4
Gamma-aminobutyric acid receptor subunit gamma-1	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-2	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-4	4	0	0	4
Gamma-aminobutyric acid receptor subunit gamma-3	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-6	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-1	4	0	0	4
Gamma-aminobutyric acid receptor subunit beta-3	4	0	0	4
Gamma-aminobutyric acid receptor subunit beta-2	4	0	0	4
GABA theta subunit	4	0	0	4
Inositol hexakisphosphate kinase 1	3	0	0	3
ATPase family AAA domain-containing protein 5	2	0	0	2
Ataxin-2	3	0	0	3
Gamma-aminobutyric acid receptor subunit epsilon	4	0	0	4
Protein-arginine deiminase type-4	0	2	0	2
cytochrome P450 2C9, partial	3	0	0	3
PPM1D protein	2	0	0	2
5-hydroxytryptamine receptor 1A	0	1	0	1
Spike glycoprotein	2	0	1	3
Nonstructural protein 5A	0	1	1	2
Chain A, JmjC domain-containing histone demethylation protein 3A	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
15-lipoxygenase, partial	1	0	0	1
apical membrane antigen 1, AMA1	2	0	0	2
aldehyde dehydrogenase 1 family, member A1	3	0	0	3
cytochrome P450 family 3 subfamily A polypeptide 4	6	0	0	6
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	2	0	0	2
lethal factor (plasmid)	2	0	0	2
Matrix metalloproteinase-9	0	1	0	1
Chain A, BCL-2-RELATED PROTEIN A1	0	0	1	1
cytochrome P450 2D6	1	0	0	1
unnamed protein product	0	1	0	1
chromobox protein homolog 1	3	0	0	3
transcriptional regulator ERG isoform 3	1	0	0	1
heat shock protein HSP 90-alpha isoform 2	0	0	0	1
bcl-2-like protein 11 isoform 1	0	0	1	1
Histone deacetylase 3	0	1	0	1
Rap guanine nucleotide exchange factor 3	2	0	0	2
Chymotrypsinogen A	0	1	0	1
Beta-lactamase	0	1	0	1
Steroid 17-alpha-hydroxylase/17,20 lyase	0	1	0	1
Heme oxygenase 1	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
Lanosterol 14-alpha demethylase	0	1	1	2
Aromatase	0	1	0	1
Cytochrome P450 11B1, mitochondrial	0	1	0	1
Cytochrome P450 11B2, mitochondrial	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
Heme oxygenase 2	0	1	0	1
Malate dehydrogenase, cytoplasmic	0	1	0	1
Histone deacetylase 4	0	1	0	1
Cytochrome P450 144	0	0	2	2
Steroid C26-monooxygenase	0	0	2	2
Steroid C26-monooxygenase	0	0	2	2
Mycocyclosin synthase	0	0	1	1
Lanosterol 14-alpha demethylase	0	0	1	1
Lanosterol 14-alpha demethylase	0	0	1	1
TAR DNA-binding protein 43	2	0	0	2
Histone deacetylase 1	0	1	0	1
Lanosterol 14-alpha demethylase	0	1	1	2
Sterol 14-alpha demethylase	0	0	1	1
Sterol 14-alpha demethylase	0	1	1	2
Histone deacetylase 7	0	1	0	1
Histone deacetylase 2	0	1	0	1
Polyamine deacetylase HDAC10	0	1	0	1
Histone deacetylase 11	0	1	0	1
14-alpha sterol demethylase	0	0	1	1
Histone deacetylase 8	0	1	0	1
Histone deacetylase 6	0	1	0	1
Histone deacetylase 9	0	1	0	1
Histone deacetylase 5	0	1	0	1
heat shock protein 90, putative	0	0	0	1
likely tRNA 2'-phosphotransferase	0	1	0	1
hypoxia-inducible factor 1 alpha subunit	2	0	0	2
GALC protein	1	0	0	1
estrogen receptor 2 (ER beta)	2	0	0	2
30S ribosomal protein S6	0	2	0	2
30S ribosomal protein S7	0	2	0	2
50S ribosomal protein L15	0	2	0	2
50S ribosomal protein L10	0	2	0	2
50S ribosomal protein L11	0	2	0	2
50S ribosomal protein L7/L12	0	2	0	2
50S ribosomal protein L19	0	2	0	2
50S ribosomal protein L1	0	2	0	2
50S ribosomal protein L20	0	2	0	2
50S ribosomal protein L27	0	2	0	2
50S ribosomal protein L28	0	2	0	2
50S ribosomal protein L29	0	2	0	2
50S ribosomal protein L31	0	2	0	2
50S ribosomal protein L31 type B	0	2	0	2
50S ribosomal protein L32	0	2	0	2
50S ribosomal protein L33	0	2	0	2
50S ribosomal protein L34	0	2	0	2
50S ribosomal protein L35	0	2	0	2
50S ribosomal protein L36	0	2	0	2
30S ribosomal protein S10	0	2	0	2
30S ribosomal protein S11	0	2	0	2
30S ribosomal protein S12	0	2	0	2
30S ribosomal protein S13	0	2	0	2
30S ribosomal protein S16	0	2	0	2
30S ribosomal protein S18	0	2	0	2
30S ribosomal protein S19	0	2	0	2
30S ribosomal protein S20	0	2	0	2
30S ribosomal protein S2	0	2	0	2
30S ribosomal protein S3	0	2	0	2
30S ribosomal protein S4	0	2	0	2
30S ribosomal protein S5	0	2	0	2
30S ribosomal protein S8	0	2	0	2
30S ribosomal protein S9	0	2	0	2
50S ribosomal protein L13	0	2	0	2
50S ribosomal protein L14	0	2	0	2
50S ribosomal protein L16	0	2	0	2
50S ribosomal protein L23	0	2	0	2
30S ribosomal protein S15	0	2	0	2
50S ribosomal protein L17	0	2	0	2
50S ribosomal protein L21	0	2	0	2
50S ribosomal protein L30	0	2	0	2
50S ribosomal protein L6	0	2	0	2
30S ribosomal protein S14	0	2	0	2
30S ribosomal protein S17	0	2	0	2
30S ribosomal protein S1	0	2	0	2
50S ribosomal protein L18	0	2	0	2
50S ribosomal protein L2	0	2	0	2
50S ribosomal protein L3	0	2	0	2
50S ribosomal protein L24	0	2	0	2
50S ribosomal protein L4	0	2	0	2
50S ribosomal protein L22	0	2	0	2
50S ribosomal protein L5	0	2	0	2
30S ribosomal protein S21	0	2	0	2
50S ribosomal protein L25	0	2	0	2
50S ribosomal protein L36 2	0	2	0	2
Tyrosyl-DNA phosphodiesterase 1	0	1	0	1
luciferase	0	0	0	1
progesterone receptor	2	0	0	2
nuclear receptor subfamily 1, group I, member 2	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 2	3	0	0	3
Fatty acid-binding protein, liver	0	1	0	1
Estrogen receptor	0	2	0	2
Glucocorticoid receptor	0	4	2	11
Progesterone receptor	0	2	0	3
Glucocorticoid receptor	0	1	1	2
Glucocorticoid receptor	0	0	1	1
Glycine receptor subunit alpha-1	0	4	0	4
Corticosteroid-binding globulin	0	1	0	1
Mineralocorticoid receptor	0	2	1	3
Androgen receptor	0	2	0	2
Glutamine synthetase	0	0	1	1
Androgen receptor	0	1	0	1
Glycine receptor subunit beta	0	4	0	4
Glycine receptor subunit alpha-2	0	4	0	4
Glycine receptor subunit alpha-3	0	4	0	4
Histamine H1 receptor	0	0	1	1
Prostaglandin G/H synthase 2	0	1	0	1
Nociceptin receptor	0	0	1	1
Estrogen receptor beta	0	2	0	2
pregnane X receptor	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
nuclear receptor ROR-gamma isoform 1	1	0	0	1
Glutamate 5-kinase	0	0	0	1
Angiotensin-converting enzyme	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	1	0	1
Neutral amino acid transporter A	0	1	0	1
Neutral amino acid transporter B(0)	0	1	0	1
Proton-coupled amino acid transporter 1	0	1	0	1
Amino acid transporter	0	1	0	1
NS5	0	0	1	1
Thrombopoietin	1	0	0	1
alpha-galactosidase	1	0	0	1
Spike glycoprotein	0	0	1	1
Replicase polyprotein 1ab	0	0	1	1
glycogen synthase kinase-3 beta isoform 1	0	0	1	1
urokinase-type plasminogen activator precursor	1	0	0	1
plasminogen precursor	1	0	0	1
urokinase plasminogen activator surface receptor precursor	1	0	0	1
Transmembrane protease serine 2	0	0	1	1
Voltage-dependent L-type calcium channel subunit alpha-1F	0	1	0	1
Polymerase basic protein 2	0	0	1	1
RNA-directed RNA polymerase catalytic subunit	0	0	1	1
Polymerase acidic protein	0	0	1	1
Procathepsin L	0	0	1	1
Replicase polyprotein 1a	0	0	1	1
Replicase polyprotein 1ab	0	0	1	1
Replicase polyprotein 1ab	0	0	1	1
Adenosine receptor A3	0	1	0	1
Replicase polyprotein 1ab	0	0	1	1
Adenosylhomocysteinase	0	0	0	2
Adenosine receptor A2a	0	1	0	1
Adenosine receptor A1	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1D	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1S	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Adenosine receptor A1	0	1	0	1
Genome polyprotein	0	0	1	1
Angiotensin-converting enzyme 2	0	0	1	1
Chain A, Arginase 1	0	1	0	1
Large neutral amino acids transporter small subunit 1	0	1	0	1
glp-1 receptor, partial	1	0	0	1
streptokinase A precursor	0	0	1	1
twin arginine protein translocation system - TatA protein	0	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

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HIGM2 Syndrome

Synonyms(18)

Research

Studies (12)

Drugs Studied (20)

Protein Targets (306)