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Absent isohemagglutinin level

MedGen UID:
1691361
•Concept ID:
C5139456
•
Finding
Synonyms: Absent natural antibody to blood group agents; Complete or near-complete absence of isohemagglutinins
 
HPO: HP:0410293

Definition

Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent isohemagglutinin level

Conditions with this feature

Agammaglobulinemia 3, autosomal recessive
MedGen UID:
462101
•Concept ID:
C3150751
•
Disease or Syndrome
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
See: Condition Record
Combined immunodeficiency due to MALT1 deficiency
MedGen UID:
815913
•Concept ID:
C3809583
•
Disease or Syndrome
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
See: Condition Record
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
MedGen UID:
816258
•Concept ID:
C3809928
•
Disease or Syndrome
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
See: Condition Record
Agammaglobulinemia 3, autosomal recessive
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Combined immunodeficiency due to MALT1 deficiency

Recent clinical studies

Etiology

Immunologic aspects of West syndrome and evidence of plasma inhibitory effects on T cell function.
Montelli TC, Soares AM, Peraçoli MT
Arq Neuropsiquiatr 2003 Sep;61(3B):731-7. Epub 2003 Oct 28 doi: 10.1590/s0004-282x2003000500006. PMID: 14595474
High level of alpha1-acid glycoprotein in human seminal plasma is associated with high branching and expression of Lewis(a) groups on its glycans: supporting evidence for a prostatic origin.
Poland DC, Kratz E, Vermeiden JP, De Groot SM, Bruyneel B, De Vries T, Van Dijk W
Prostate 2002 Jun 1;52(1):34-42. doi: 10.1002/pros.10085. PMID: 11992618
In vitro IgE synthesis in neonates with different family history of atopy.
Miceli Sopo S, Pesaresi MA, Minchilli G, Maraglino V, Guerrini B, Rossodivita A, Stabile A
Allergol Immunopathol (Madr) 1997 Mar-Apr;25(2):73-9. PMID: 9150836
Immunoglobulin isotype-specific antibody responses to pneumococcal polysaccharide vaccine in patients with recurrent bacterial respiratory tract infections.
Sanders LA, Rijkers GT, Tenbergen-Meekes AM, Voorhorst-Ogink MM, Zegers BJ
Pediatr Res 1995 Jun;37(6):812-9. doi: 10.1203/00006450-199506000-00023. PMID: 7651768
Clinical and laboratorial features of visceral toxocariasis in infancy.
Jacob CM, Pastorino AC, Peres BA, Mello EO, Okay Y, Oselka GW
Rev Inst Med Trop Sao Paulo 1994 Jan-Feb;36(1):19-26. doi: 10.1590/s0036-46651994000100004. PMID: 7527930

Diagnosis

Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
Malik A, Stringer E, Warner N, van Limbergen J, Vandersteen A, Muise A, Derfalvi B
Pediatrics 2021 Nov;148(5) Epub 2021 Oct 22 doi: 10.1542/peds.2021-050614. PMID: 34686572Free PMC Article
Activation of the inducible form of nitric oxide synthase in the brains of patients with multiple sclerosis.
Bagasra O, Michaels FH, Zheng YM, Bobroski LE, Spitsin SV, Fu ZF, Tawadros R, Koprowski H
Proc Natl Acad Sci U S A 1995 Dec 19;92(26):12041-5. doi: 10.1073/pnas.92.26.12041. PMID: 8618840Free PMC Article
In vivo and in vitro cytokine profiles and mononuclear cell subsets in Sicilian patients with active visceral leishmaniasis.
Cillari E, Vitale G, Arcoleo F, D'Agostino P, Mocciaro C, Gambino G, Malta R, Stassi G, Giordano C, Milano S
Cytokine 1995 Oct;7(7):740-5. doi: 10.1006/cyto.1995.0088. PMID: 8580385
Clinical and laboratorial features of visceral toxocariasis in infancy.
Jacob CM, Pastorino AC, Peres BA, Mello EO, Okay Y, Oselka GW
Rev Inst Med Trop Sao Paulo 1994 Jan-Feb;36(1):19-26. doi: 10.1590/s0036-46651994000100004. PMID: 7527930
Spectrofluorimetric and image recordings of spontaneous and lectin-induced cytosolic calcium oscillations in Jurkat T cells.
Payet MD, Bilodeau L, Héroux J, Harbec G, Dupuis G
Cell Calcium 1991 May;12(5):325-34. doi: 10.1016/0143-4160(91)90048-j. PMID: 1893394

Therapy

Surface Glycans of Microvesicles Derived from Endothelial Cells, as Probed Using Plant Lectins.
Slivka EV, Shilova NV, Obraztsova EA, Kapustkina DS, Khaidukov SV, Nokel AY, Ryzhov IM, Henry SM, Bovin NV, Rapoport EM
Int J Mol Sci 2024 May 24;25(11) doi: 10.3390/ijms25115725. PMID: 38891913Free PMC Article
Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
Malik A, Stringer E, Warner N, van Limbergen J, Vandersteen A, Muise A, Derfalvi B
Pediatrics 2021 Nov;148(5) Epub 2021 Oct 22 doi: 10.1542/peds.2021-050614. PMID: 34686572Free PMC Article
The effect of three-monthly albendazole treatment on Th2 responses: Differential effects on IgE and IL-5.
de Ruiter K, Tahapary DL, Wammes LJ, Wiria AE, Hamid F, van Lieshout L, Smit JWA, Houwing-Duistermaat JJ, Sartono E, Supali T, Yazdanbakhsh M
Parasite Immunol 2017 Jun;39(6) doi: 10.1111/pim.12428. PMID: 28370210
Status of immunity of newborns against Yersinia enterocolitica: a preliminary report.
Chiesa C, Bottone EJ, Hodes HL
Am J Med Sci 1984 Mar-Apr;287(2):18-20. doi: 10.1097/00000441-198403000-00004. PMID: 6369983
Immunochemical study of the malabsorption syndrome with cow's milk intolerance.
Savilahti E
Gut 1973 Jun;14(6):491-501. doi: 10.1136/gut.14.6.491. PMID: 4578221Free PMC Article

Prognosis

Cross-Neutralising Nanobodies Bind to a Conserved Pocket in the Hemagglutinin Stem Region Identified Using Yeast Display and Deep Mutational Scanning.
Gaiotto T, Hufton SE
PLoS One 2016;11(10):e0164296. Epub 2016 Oct 14 doi: 10.1371/journal.pone.0164296. PMID: 27741319Free PMC Article
In vitro IgE synthesis in neonates with different family history of atopy.
Miceli Sopo S, Pesaresi MA, Minchilli G, Maraglino V, Guerrini B, Rossodivita A, Stabile A
Allergol Immunopathol (Madr) 1997 Mar-Apr;25(2):73-9. PMID: 9150836
In vivo and in vitro cytokine profiles and mononuclear cell subsets in Sicilian patients with active visceral leishmaniasis.
Cillari E, Vitale G, Arcoleo F, D'Agostino P, Mocciaro C, Gambino G, Malta R, Stassi G, Giordano C, Milano S
Cytokine 1995 Oct;7(7):740-5. doi: 10.1006/cyto.1995.0088. PMID: 8580385

Clinical prediction guides

Cross-Neutralising Nanobodies Bind to a Conserved Pocket in the Hemagglutinin Stem Region Identified Using Yeast Display and Deep Mutational Scanning.
Gaiotto T, Hufton SE
PLoS One 2016;11(10):e0164296. Epub 2016 Oct 14 doi: 10.1371/journal.pone.0164296. PMID: 27741319Free PMC Article
Activation of the inducible form of nitric oxide synthase in the brains of patients with multiple sclerosis.
Bagasra O, Michaels FH, Zheng YM, Bobroski LE, Spitsin SV, Fu ZF, Tawadros R, Koprowski H
Proc Natl Acad Sci U S A 1995 Dec 19;92(26):12041-5. doi: 10.1073/pnas.92.26.12041. PMID: 8618840Free PMC Article
Spectrofluorimetric and image recordings of spontaneous and lectin-induced cytosolic calcium oscillations in Jurkat T cells.
Payet MD, Bilodeau L, Héroux J, Harbec G, Dupuis G
Cell Calcium 1991 May;12(5):325-34. doi: 10.1016/0143-4160(91)90048-j. PMID: 1893394
Regulation of S-adenosylmethionine synthetase activity in cultured human lymphocytes.
De La Rosa J, Kotb M, Kredich NM
Biochim Biophys Acta 1991 Apr 8;1077(2):225-32. doi: 10.1016/0167-4838(91)90062-5. PMID: 1849748
Immunochemical study of the malabsorption syndrome with cow's milk intolerance.
Savilahti E
Gut 1973 Jun;14(6):491-501. doi: 10.1136/gut.14.6.491. PMID: 4578221Free PMC Article

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