Page last updated: 2024-09-27

HIGM1

An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.

Synonyms(7)

Synonym
Immunodeficiency with Hyper-IgM, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Syndrome 1
HIGM1
Hyper-IgM Immunodeficiency, X-Linked
HIGM1 Syndrome
X-Linked Hyper IgM Syndrome

Research

Studies (9)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's1 (11.11)18.1394
2010's7 (77.78)28.8240
2020's1 (11.11)9.53
DrugIndicatedRelationship StrengthStudiesTrials
busulfan0low10
tetradecanoylphorbol acetate0low10
resiquimod0low10
trimethoprim, sulfamethoxazole drug combination0low20
n-formylmethionine leucyl-phenylalanine0low10
l 743,8720low10
amphotericin b0low10
treosulfan0low10

Protein Targets (82)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, Cruzipain1001
interleukin 81001
phosphopantetheinyl transferase1001
GLS protein1001
glucocorticoid receptor [Homo sapiens]2002
farnesoid X nuclear receptor1001
peroxisome proliferator-activated receptor delta1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
tumor necrosis factor1001
vitamin D3 receptor isoform VDRA1001
nuclear factor erythroid 2-related factor 2 isoform 12002
peripheral myelin protein 221001
lamin isoform A-delta102002
Cytochrome P450 1A20101
Cytochrome P450 3A40101
Cytochrome P450 2D60101
Cytochrome P450 2C9 0101
Cytochrome P450 2C190101
Nuclear receptor ROR-gamma1001
Potassium voltage-gated channel subfamily H member 20101
Aurora kinase B0101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase1001
15-lipoxygenase, partial1001
TDP1 protein1001
apical membrane antigen 1, AMA11001
aldehyde dehydrogenase 1 family, member A11001
thyroid stimulating hormone receptor1001
cytochrome P450 family 3 subfamily A polypeptide 41001
EWS/FLI fusion protein1001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha1001
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
aryl hydrocarbon receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
thyroid hormone receptor beta isoform 21001
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
geminin2002
lethal factor (plasmid)1001
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Bile salt export pump0101
Matrix metalloproteinase-90101
Disintegrin and metalloproteinase domain-containing protein 171001
Canalicular multispecific organic anion transporter 10101
Chain A, Beta-lactamase1001
thioredoxin reductase1001
thioredoxin glutathione reductase1001
chromobox protein homolog 11001
Formyl peptide receptor-related sequence 10011
fMet-Leu-Phe receptor0224
N-formyl peptide receptor 20022
FML2_HUMAN 0011
cytochrome P450 2D61001
7,8-dihydro-8-oxoguanine triphosphatase0101
Toll-like receptor 80013
Toll-like receptor 70013
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Microtubule-associated protein tau1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
nuclear receptor ROR-gamma isoform 11001
DNA polymerase kappa isoform 11001
Serine/threonine-protein kinase D30011
Protein kinase C gamma type0112
Protein kinase C beta type0112
Luciferin 4-monooxygenase0011
Protein kinase C alpha type0112
Beta-1 adrenergic receptor0101
Protein kinase C eta type0011
Protein kinase C iota type0011
Protein kinase C epsilon type0112
Protein kinase C theta type0011
Protein kinase C zeta type0011
Protein kinase C delta type0112
Serine/threonine-protein kinase D10011
Ras guanyl-releasing protein 30011
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]