U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

C2 deficiency, type I

MedGen UID:
865788
•Concept ID:
C4017351
•
Finding
Synonym: C2 DEFICIENCY, TYPE I
 
OMIM®: 613927

Professional guidelines

PubMed

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C
J Inherit Metab Dis 2020 Sep;43(5):934-943. Epub 2020 Apr 17 doi: 10.1002/jimd.12236. PMID: 32216101Free PMC Article
Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.
Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD
J Clin Immunol 2015 Feb;35(2):199-205. Epub 2015 Feb 8 doi: 10.1007/s10875-015-0137-5. PMID: 25663093
False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.
Hennermann JB, Roloff S, Gellermann J, Grüters A, Klein J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S355-9. Epub 2009 Dec 23 doi: 10.1007/s10545-009-9017-6. PMID: 20033292

Recent clinical studies

Etiology

Molecular classification of ovarian high-grade serous/endometrioid carcinomas through multi-omics analysis: JGOG3025-TR2 study.
Takamatsu S, Hillman RT, Yoshihara K, Baba T, Shimada M, Yoshida H, Kajiyama H, Oda K, Mandai M, Okamoto A, Enomoto T, Matsumura N
Br J Cancer 2024 Nov;131(8):1340-1349. Epub 2024 Aug 30 doi: 10.1038/s41416-024-02837-x. PMID: 39215190Free PMC Article
Krox-20 gene expression: influencing hindbrain-craniofacial developmental interactions.
De S, Turman JE Jr
Arch Histol Cytol 2005 Dec;68(4):227-34. doi: 10.1679/aohc.68.227. PMID: 16477142
Type II hereditary angioedema: presentation and follow-up of three cases.
Arias J, Moral A, García MA, Fernández-Rivas M, Abengózar R, Panadero P, Senent C
Allergol Immunopathol (Madr) 1994 Nov-Dec;22(6):244-9. PMID: 7892812
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348
Immunogenetic aspects of allotransplantation.
Yunis EJ, Dupont B, Hansen J
Adv Exp Med Biol 1976;73 Pt B:231-51. doi: 10.1007/978-1-4684-3300-5_20. PMID: 136874

Diagnosis

Molecular classification of ovarian high-grade serous/endometrioid carcinomas through multi-omics analysis: JGOG3025-TR2 study.
Takamatsu S, Hillman RT, Yoshihara K, Baba T, Shimada M, Yoshida H, Kajiyama H, Oda K, Mandai M, Okamoto A, Enomoto T, Matsumura N
Br J Cancer 2024 Nov;131(8):1340-1349. Epub 2024 Aug 30 doi: 10.1038/s41416-024-02837-x. PMID: 39215190Free PMC Article
Conventional and Unconventional Mechanisms by which Exocytosis Proteins Oversee β-cell Function and Protection.
Chatterjee Bhowmick D, Ahn M, Oh E, Veluthakal R, Thurmond DC
Int J Mol Sci 2021 Feb 12;22(4) doi: 10.3390/ijms22041833. PMID: 33673206Free PMC Article
New challenges in integrated diagnosis by imaging and osteo-immunology in bone lesions.
Schiano C, Soricelli A, De Nigris F, Napoli C
Expert Rev Clin Immunol 2019 Mar;15(3):289-301. Epub 2019 Jan 2 doi: 10.1080/1744666X.2019.1561283. PMID: 30570412
Type C retrovirus inactivation by human complement is determined by both the viral genome and the producer cell.
Takeuchi Y, Cosset FL, Lachmann PJ, Okada H, Weiss RA, Collins MK
J Virol 1994 Dec;68(12):8001-7. doi: 10.1128/JVI.68.12.8001-8007.1994. PMID: 7966590Free PMC Article
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Therapy

An Open-label Phase 2 Study of Eneboparatide, a Novel PTH Receptor 1 Agonist, in Hypoparathyroidism.
Takacs I, Mezosi E, Soto A, Kamenický P, Figueres L, Galvez Moreno MA, Lemoine S, Borson-Chazot F, Capel I, Ouldrouis T, Lucas N, Allas S, Sumeray M, Ovize M, Mannstadt M
J Clin Endocrinol Metab 2024 Aug 13;109(9):2199-2209. doi: 10.1210/clinem/dgae121. PMID: 38449442
Treatments for seizures in catamenial (menstrual-related) epilepsy.
Maguire MJ, Nevitt SJ
Cochrane Database Syst Rev 2021 Sep 16;9(9):CD013225. doi: 10.1002/14651858.CD013225.pub3. PMID: 34528245Free PMC Article
Bradykinin-mediated diseases.
Kaplan AP
Chem Immunol Allergy 2014;100:140-7. Epub 2014 May 22 doi: 10.1159/000358619. PMID: 24925394
Type II hereditary angioedema: presentation and follow-up of three cases.
Arias J, Moral A, García MA, Fernández-Rivas M, Abengózar R, Panadero P, Senent C
Allergol Immunopathol (Madr) 1994 Nov-Dec;22(6):244-9. PMID: 7892812
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Prognosis

Molecular classification of ovarian high-grade serous/endometrioid carcinomas through multi-omics analysis: JGOG3025-TR2 study.
Takamatsu S, Hillman RT, Yoshihara K, Baba T, Shimada M, Yoshida H, Kajiyama H, Oda K, Mandai M, Okamoto A, Enomoto T, Matsumura N
Br J Cancer 2024 Nov;131(8):1340-1349. Epub 2024 Aug 30 doi: 10.1038/s41416-024-02837-x. PMID: 39215190Free PMC Article
New challenges in integrated diagnosis by imaging and osteo-immunology in bone lesions.
Schiano C, Soricelli A, De Nigris F, Napoli C
Expert Rev Clin Immunol 2019 Mar;15(3):289-301. Epub 2019 Jan 2 doi: 10.1080/1744666X.2019.1561283. PMID: 30570412
Exocytosis proteins as novel targets for diabetes prevention and/or remediation?
Aslamy A, Thurmond DC
Am J Physiol Regul Integr Comp Physiol 2017 May 1;312(5):R739-R752. Epub 2017 Mar 29 doi: 10.1152/ajpregu.00002.2017. PMID: 28356294Free PMC Article
Protective immunosurveillance and therapeutic antitumor activity of gammadelta T cells demonstrated in a mouse model of prostate cancer.
Liu Z, Eltoum IE, Guo B, Beck BH, Cloud GA, Lopez RD
J Immunol 2008 May 1;180(9):6044-53. doi: 10.4049/jimmunol.180.9.6044. PMID: 18424725
Type II hereditary angioedema: presentation and follow-up of three cases.
Arias J, Moral A, García MA, Fernández-Rivas M, Abengózar R, Panadero P, Senent C
Allergol Immunopathol (Madr) 1994 Nov-Dec;22(6):244-9. PMID: 7892812

Clinical prediction guides

Molecular classification of ovarian high-grade serous/endometrioid carcinomas through multi-omics analysis: JGOG3025-TR2 study.
Takamatsu S, Hillman RT, Yoshihara K, Baba T, Shimada M, Yoshida H, Kajiyama H, Oda K, Mandai M, Okamoto A, Enomoto T, Matsumura N
Br J Cancer 2024 Nov;131(8):1340-1349. Epub 2024 Aug 30 doi: 10.1038/s41416-024-02837-x. PMID: 39215190Free PMC Article
SPERM FACTORS AND EGG ACTIVATION: The structure and function relationship of sperm PLCZ1.
Thanassoulas A, Swann K, Lai FA, Nomikos M
Reproduction 2022 May 23;164(1):F1-F8. doi: 10.1530/REP-21-0477. PMID: 35521907
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning.
Clemente F, Matassini C, Faggi C, Giachetti S, Cresti C, Morrone A, Paoli P, Goti A, Martínez-Bailén M, Cardona F
Bioorg Chem 2020 May;98:103740. Epub 2020 Mar 9 doi: 10.1016/j.bioorg.2020.103740. PMID: 32200326
Exocytosis proteins as novel targets for diabetes prevention and/or remediation?
Aslamy A, Thurmond DC
Am J Physiol Regul Integr Comp Physiol 2017 May 1;312(5):R739-R752. Epub 2017 Mar 29 doi: 10.1152/ajpregu.00002.2017. PMID: 28356294Free PMC Article
Protein kinase C-θ clustering at immunological synapses amplifies effector responses in NK cells.
Merino E, Abeyweera TP, Firth MA, Zawislak CL, Basu R, Liu X, Sun JC, Huse M
J Immunol 2012 Nov 15;189(10):4859-69. Epub 2012 Oct 17 doi: 10.4049/jimmunol.1200825. PMID: 23077238

Recent systematic reviews

Treatments for seizures in catamenial (menstrual-related) epilepsy.
Maguire MJ, Nevitt SJ
Cochrane Database Syst Rev 2021 Sep 16;9(9):CD013225. doi: 10.1002/14651858.CD013225.pub3. PMID: 34528245Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...