U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Antineutrophil antibody positivity

MedGen UID:
395147
Concept ID:
C1858981
Laboratory or Test Result
Synonym: Neutrophil antibody positive
 
HPO: HP:0003453

Definition

The presence of autoantibodies in the serum that react against neutrophils. [from HPO]

Conditions with this feature

Autoimmune lymphoproliferative syndrome type 1
MedGen UID:
231300
Concept ID:
C1328840
Disease or Syndrome
Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.
Autoimmune lymphoproliferative syndrome type 2A
MedGen UID:
349065
Concept ID:
C1858968
Disease or Syndrome
Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.
Immunodeficiency 98 with autoinflammation, X-linked
MedGen UID:
1805285
Concept ID:
C5676883
Disease or Syndrome
X-linked immunodeficiency-98 with autoinflammation (IMD98) is characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia (Aluri et al., 2021; Fejtkova et al., 2022).

Professional guidelines

PubMed

Trivioli G, Marquez A, Martorana D, Tesi M, Kronbichler A, Lyons PA, Vaglio A
Nat Rev Rheumatol 2022 Oct;18(10):559-574. Epub 2022 Sep 15 doi: 10.1038/s41584-022-00819-y. PMID: 36109667
Robson JC, Grayson PC, Ponte C, Suppiah R, Craven A, Judge A, Khalid S, Hutchings A, Watts RA, Merkel PA, Luqmani RA; DCVAS Investigators
Ann Rheum Dis 2022 Mar;81(3):315-320. Epub 2022 Feb 2 doi: 10.1136/annrheumdis-2021-221795. PMID: 35110333
Ozen S, Pistorio A, Iusan SM, Bakkaloglu A, Herlin T, Brik R, Buoncompagni A, Lazar C, Bilge I, Uziel Y, Rigante D, Cantarini L, Hilario MO, Silva CA, Alegria M, Norambuena X, Belot A, Berkun Y, Estrella AI, Olivieri AN, Alpigiani MG, Rumba I, Sztajnbok F, Tambic-Bukovac L, Breda L, Al-Mayouf S, Mihaylova D, Chasnyk V, Sengler C, Klein-Gitelman M, Djeddi D, Nuno L, Pruunsild C, Brunner J, Kondi A, Pagava K, Pederzoli S, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2010 May;69(5):798-806. doi: 10.1136/ard.2009.116657. PMID: 20413568

Recent systematic reviews

Moin KA, Yeakle MM, Parrill AM, Garofalo VA, Tsiyer AR, Bishev D, Gala D, Fogel J, Hatsis AJ, Wickas TD, Anand P, Morcos M
Rom J Ophthalmol 2023 Jul-Sep;67(3):214-221. doi: 10.22336/rjo.2023.38. PMID: 37876507Free PMC Article
Labrador AJP, Valdez LHM, Marin NRG, Ibazetta KAR, Chacón JAL, Fernandez AJV, Valencia MSV, Marchant SW, Sanchez KBT, Villacrez CA
Clin Exp Dent Res 2023 Feb;9(1):100-111. Epub 2023 Jan 4 doi: 10.1002/cre2.706. PMID: 36600477Free PMC Article
Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A
J Clin Immunol 2022 Aug;42(6):1310-1320. Epub 2022 Jun 7 doi: 10.1007/s10875-022-01287-5. PMID: 35670985
Akiyama M, Takanashi S, Takeuchi T, Kaneko Y
Autoimmun Rev 2021 Nov;20(11):102940. Epub 2021 Sep 10 doi: 10.1016/j.autrev.2021.102940. PMID: 34509652
Loricera J, Blanco R, Hernández JL, Pina T, González-Vela MC, González-Gay MA
Int Immunopharmacol 2015 Aug;27(2):213-9. Epub 2015 Mar 28 doi: 10.1016/j.intimp.2015.03.020. PMID: 25828585

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...