eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| blau syndrome | ||||
| Disease ID | 524 |
|---|---|
| Disease | blau syndrome |
| Definition | An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. |
| Synonym | acug arthrocutaneouveal granulamotosis arthrocutaneouveal granulomatosis blaus early onset sarcoidosis early-onset sarcoidosis familial granulomatosis, blau type familial granulomatous inflammatory arthritis, dermatitis and uveitis familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) familial juvenile systemic granulomatosis granulomatosis, familial juvenile systemic granulomatosis, familial, blau type granulomatous inflammatory arthritis, dermatitis and uveitis, familial granulomatous inflammatory arthritis, dermatitis, and uveitis, familial jabs syndrome pediatric granulomatous arthritis synovitis granulomatous with uveitis and cranial neuropathies synovitis, granulomatous, with uveitis and cranial neuropathies synovitis, granulomatous, with uveitis and cranial neuropathies (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1861303 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0039103 | synovitis | 1 C0039520 | tenosynovitis | 1 C0042164 | uveitis | 1 C0003864 | arthritis | 1 C0030524 | paratuberculosis | 1 C0003864 | joint inflammation | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 1822 | ATN1 | 4.2 | DISEASES 64170 | CARD9 | 2.032 | DISEASES 834 | CASP1 | 2.858 | DISEASES 10803 | CCR9 | 1.764 | DISEASES 81704 | DOCK8 | 1.856 | DISEASES 3459 | IFNGR1 | 1.815 | DISEASES 3605 | IL17A | 1.209 | DISEASES 4615 | MYD88 | 1.389 | DISEASES 4671 | NAIP | 2.051 | DISEASES 58484 | NLRC4 | 1.474 | DISEASES 114548 | NLRP3 | 4.782 | DISEASES 5696 | PSMB8 | 1.585 | DISEASES 9051 | PSTPIP1 | 2.901 | DISEASES 7099 | TLR4 | 1.298 | DISEASES 7124 | TNF | 2.037 | DISEASES 7133 | TNFRSF1B | 1.29 | DISEASES 9278 | ZBTB22 | 1.717 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NOD2 | 16q12.1 |
| Disease ID | 524 |
|---|---|
| Disease | blau syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:56) HP:0000585 | Band keratopathy HP:0002094 | Dyspnea HP:0000518 | Cataract HP:0004942 | Aortic aneurysm HP:0008046 | Abnormality of the retinal vasculature HP:0000598 | Ear anomaly HP:0000587 | Abnormality of the optic nerve HP:0010628 | Facial palsy HP:0000572 | Visual loss HP:0000217 | Xerostomia HP:0000953 | Hyperpigmentation of the skin HP:0001376 | Limitation of joint mobility HP:0010783 | Erythema HP:0002829 | Arthralgia HP:0002716 | Lymphadenopathy HP:0012219 | Erythema nodosum HP:0007432 | Intermittent generalized erythematous papular rash HP:0100769 | Synovitis HP:0001291 | Abnormality of the cranial nerves HP:0000822 | Hypertension HP:0000112 | Nephropathy HP:0200042 | Skin ulcer HP:0007813 | Nongranulomatous uveitis HP:0003774 | Stage 5 chronic kidney disease HP:0005310 | Large vessel vasculitis HP:0005764 | Polyarticular arthritis HP:0012647 | Abnormal inflammatory response HP:0200034 | Papule HP:0001903 | Anemia HP:0005830 | Flexion contracture of toe HP:0000554 | Uveitis HP:0100654 | Retrobulbar optic neuritis HP:0001094 | Iridocyclitis HP:0010286 | Abnormality of the salivary glands HP:0001386 | Joint swelling HP:0001392 | Abnormality of the liver HP:0001945 | Fever HP:0000491 | Keratitis HP:0001701 | Pericarditis HP:0011505 | Cystoid macular edema HP:0006770 | Clear cell renal cell carcinoma HP:0000988 | Skin rash HP:0001744 | Splenomegaly HP:0000958 | Dry skin HP:0001369 | Arthritis HP:0012123 | Posterior uveitis HP:0000488 | Retinopathy HP:0000610 | Abnormality of the choroid HP:0001291 | Cranial nerve disease HP:0000613 | Photophobia HP:0100490 | Camptodactyly of finger HP:0001101 | Iritis HP:0000964 | Eczema HP:0002092 | Pulmonary arterial hypertension HP:0000501 | Glaucoma HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0012089 | Arteritis | 1 HP:0001369 | Arthritis | 1 HP:0100769 | Synovitis | 1 HP:0000554 | Uveitis | 1 |
| Disease ID | 524 |
|---|---|
| Disease | blau syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104895460 | NA | 64127 | NOD2 | umls:C1861303 | CLINVAR | NA | 0.50156346 | NA | NOD2 | 16 | 50711316 | C | T |
| rs104895460 | 11528384 | 64127 | NOD2 | umls:C1861303 | UNIPROT | CARD15 mutations in Blau syndrome. | 0.50156346 | 2001 | NOD2 | 16 | 50711316 | C | T |
| rs104895461 | NA | 64127 | NOD2 | umls:C1861303 | CLINVAR | NA | 0.50156346 | NA | NOD2 | 16 | 50710912 | G | A |
| rs104895461 | 25416713 | 64127 | NOD2 | umls:C1861303 | BeFree | Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees. | 0.50156346 | 2015 | NOD2 | 16 | 50710912 | G | A |
| rs104895461 | 11528384 | 64127 | NOD2 | umls:C1861303 | UNIPROT | CARD15 mutations in Blau syndrome. | 0.50156346 | 2001 | NOD2 | 16 | 50710912 | G | A |
| rs104895462 | NA | 64127 | NOD2 | umls:C1861303 | CLINVAR | NA | 0.50156346 | NA | NOD2 | 16 | 50710911 | C | T |
| rs104895462 | 25416713 | 64127 | NOD2 | umls:C1861303 | BeFree | Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees. | 0.50156346 | 2015 | NOD2 | 16 | 50710911 | C | T |
| rs104895462 | 20199415 | 64127 | NOD2 | umls:C1861303 | BeFree | Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees. | 0.50156346 | 2010 | NOD2 | 16 | 50710911 | C | T |
| rs104895462 | 11528384 | 64127 | NOD2 | umls:C1861303 | UNIPROT | CARD15 mutations in Blau syndrome. | 0.50156346 | 2001 | NOD2 | 16 | 50710911 | C | T |
| rs104895462 | 17916199 | 64127 | NOD2 | umls:C1861303 | BeFree | A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. | 0.50156346 | 2007 | NOD2 | 16 | 50710911 | C | T |
| rs104895462 | 17372104 | 64127 | NOD2 | umls:C1861303 | BeFree | A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds. | 0.50156346 | 2007 | NOD2 | 16 | 50710911 | C | T |
| rs104895476 | 22821420 | 64127 | NOD2 | umls:C1861303 | BeFree | A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? | 0.50156346 | 2012 | NOD2 | 16 | 50711057 | C | G,T |
| rs104895477 | 19479836 | 64127 | NOD2 | umls:C1861303 | BeFree | Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. | 0.50156346 | 2009 | NOD2 | 16 | 50711058 | G | A,T |
| rs104895477 | NA | 64127 | NOD2 | umls:C1861303 | CLINVAR | NA | 0.50156346 | NA | NOD2 | 16 | 50711058 | G | A,T |
| rs104895477 | 15812565 | 64127 | NOD2 | umls:C1861303 | UNIPROT | A new CARD15 mutation in Blau syndrome. | 0.50156346 | 2005 | NOD2 | 16 | 50711058 | G | A,T |
| rs104895493 | 24445386 | 64127 | NOD2 | umls:C1861303 | BeFree | In our patient, we found a new de novo mutation (E383G) in NOD2 that has been reported only in a family of Japanese patients with BS. | 0.50156346 | 2014 | NOD2 | 16 | 50711059 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0010286 | Abnormality of the salivary glands | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0008046 | Abnormality of the retinal vasculature | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0100490 | Camptodactyly of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0011505 | Cystoid macular edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0001392 | Abnormality of the liver | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0001291 | Abnormality of the cranial nerves | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0004942 | Aortic aneurysm | MP:0010661 | ascending aorta aneurysm | a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0011534 | granular kidney | a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the develop |
| HP:0001386 | Joint swelling | MP:0002936 | joint swelling | enlargement of the joints, usually due to an accumulation of fluid |
| HP:0000953 | Hyperpigmentation of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0005830 | Flexion contracture of toe | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000598 | Abnormality of the ear | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0005764 | Polyarticular arthritis | MP:0002993 | arthritis | autoimmune joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures |
| HP:0000587 | Abnormality of the optic nerve | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:51) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010286 | Abnormality of the salivary glands | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000585 | Band keratopathy | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008046 | Abnormality of the retinal vasculature | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0001101 | Iritis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000610 | Abnormality of the choroid | MP:0002988 | decreased urine osmolality | reduction in the amount of ions in the urine compared to the normal state |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100769 | Synovitis | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000598 | Abnormality of the ear | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001094 | Iridocyclitis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0011505 | Cystoid macular edema | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0000953 | Hyperpigmentation of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005830 | Flexion contracture of toe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005764 | Polyarticular arthritis | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0001291 | Abnormality of the cranial nerves | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0004942 | Aortic aneurysm | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005310 | Large vessel vasculitis | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0001392 | Abnormality of the liver | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000587 | Abnormality of the optic nerve | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001386 | Joint swelling | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0003774 | Stage 5 chronic kidney disease | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012123 | Posterior uveitis | MP:0008079 | decreased CD8-positive, alpha-beta T cell number | reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0007432 | Intermittent generalized erythematous papular rash | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0007813 | Nongranulomatous uveitis | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0000217 | Xerostomia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 524 |
|---|---|
| Disease | blau syndrome |
| Case | (Waiting for update.) |