U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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.
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.
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.

Recent clinical studies

Etiology

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
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
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
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
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

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
Cunha BA, Nausheen S, Busch L
Heart Lung 2009 Jul-Aug;38(4):354-62. Epub 2009 Jan 12 doi: 10.1016/j.hrtlng.2008.07.003. PMID: 19577708
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
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
Moore M, Vose BM
Int J Cancer 1981 Mar 15;27(3):265-72. doi: 10.1002/ijc.2910270303. PMID: 6169658

Therapy

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
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
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
Savilahti E
Gut 1973 Jun;14(6):491-501. doi: 10.1136/gut.14.6.491. PMID: 4578221Free PMC Article

Prognosis

Gaiotto T, Hufton SE
PLoS One 2016;11(10):e0164296. Epub 2016 Oct 14 doi: 10.1371/journal.pone.0164296. PMID: 27741319Free PMC Article
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
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

Gaiotto T, Hufton SE
PLoS One 2016;11(10):e0164296. Epub 2016 Oct 14 doi: 10.1371/journal.pone.0164296. PMID: 27741319Free PMC Article
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
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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • 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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...