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Monocytosis

MedGen UID:
39091
Concept ID:
C0085702
Disease or Syndrome
Synonym: High blood monocyte number
SNOMED CT: Monocytosis (19636003)
 
HPO: HP:0012311

Definition

An increased number of circulating monocytes. [from HPO]

Conditions with this feature

Neutropenia, severe congenital, 1, autosomal dominant
MedGen UID:
348506
Concept ID:
C1859966
Disease or Syndrome
ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia (AML) is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.
Autoimmune lymphoproliferative syndrome type 4
MedGen UID:
382434
Concept ID:
C2674723
Disease or Syndrome
RAS-associated leukoproliferative disorder is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010). The disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; 601859) and was originally designated ALPS IV.
Neutropenia, severe congenital, 2, autosomal dominant
MedGen UID:
413975
Concept ID:
C2751288
Disease or Syndrome
Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the GFI1 gene, encoding zinc finger protein Gfi-1.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
MedGen UID:
414066
Concept ID:
C2751630
Disease or Syndrome
G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn's disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).
DDX41-related hematologic malignancy predisposition syndrome
MedGen UID:
895780
Concept ID:
C4225174
Finding
DDX41-associated familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) is characterized by an increased risk of myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis. The most common myeloid neoplasms include MDS, AML, and therapy-related myeloid neoplasms. Chronic myelomonocytic leukemia, chronic myeloid leukemia, and myeloproliferative neoplasms are less common. Lymphoid neoplasms include non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, chronic lymphocytic leukemia, and acute lymphoblastic leukemia.
Severe combined immunodeficiency due to IKK2 deficiency
MedGen UID:
1648569
Concept ID:
C4747743
Disease or Syndrome
Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013).
Immunodeficiency 14b, autosomal recessive
MedGen UID:
1787468
Concept ID:
C5543301
Disease or Syndrome
Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by et al., 2018 and et al., 2019).
Immunodeficiency 91 and hyperinflammation
MedGen UID:
1794283
Concept ID:
C5562073
Disease or Syndrome
Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).
Immunodeficiency 113 with autoimmunity and autoinflammation
MedGen UID:
1851770
Concept ID:
C5882711
Disease or Syndrome
Immunodeficiency-113 with autoimmunity and autoinflammation (IMD113) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include celiac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis. Additional features include facial dysmorphism, scoliosis, and poor wound healing. One patient with neurodevelopmental abnormalities has been reported. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages (Nunes-Santos et al., 2023).
Neutropenia, severe congenital, 11, autosomal dominant
MedGen UID:
1846394
Concept ID:
C5882742
Disease or Syndrome
Autosomal dominant severe congenital neutropenia-11 (SCN11) is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Laboratory studies show severe neutropenia due to maturation arrest and impaired development of myeloid cells. Other leukocyte subsets, including B cells and NK cells, may also be subtly affected. Patients should be followed for possible renal dysfunction (Van Nieuwenhove et al., 2020). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).
Neutropenia, severe congenital, 10, autosomal recessive
MedGen UID:
1851433
Concept ID:
C5882756
Disease or Syndrome
Autosomal recessive severe congenital neutropenia-10 (SCN10) is characterized by infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Anemia and thrombocytopenia may be transiently present. The disorder results from impaired development of granulocyte precursors and neutrophils (Schmaltz-Panneau et al., 2021). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).

Professional guidelines

PubMed

Patnaik MM, Tefferi A
Am J Hematol 2024 Jun;99(6):1142-1165. Epub 2024 Mar 7 doi: 10.1002/ajh.27271. PMID: 38450850Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Szuber N, Elliott M, Tefferi A
Am J Hematol 2020 Feb;95(2):212-224. Epub 2019 Dec 30 doi: 10.1002/ajh.25688. PMID: 31769070

Recent clinical studies

Etiology

Patnaik MM, Tefferi A
Am J Hematol 2024 Jun;99(6):1142-1165. Epub 2024 Mar 7 doi: 10.1002/ajh.27271. PMID: 38450850Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2023 Apr;98(4):681-689. Epub 2023 Jan 4 doi: 10.1002/ajh.26828. PMID: 36601682
Patnaik MM
Haematologica 2022 Jul 1;107(7):1503-1517. doi: 10.3324/haematol.2021.279500. PMID: 35236051Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Neven Q, Boulanger C, Bruwier A, de Ville de Goyet M, Meyts I, Moens L, Van Damme A, Brichard B
J Clin Immunol 2021 Jan;41(1):51-58. Epub 2020 Oct 4 doi: 10.1007/s10875-020-00883-7. PMID: 33011939

Diagnosis

Patnaik MM, Tefferi A
Am J Hematol 2024 Jun;99(6):1142-1165. Epub 2024 Mar 7 doi: 10.1002/ajh.27271. PMID: 38450850Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2023 Apr;98(4):681-689. Epub 2023 Jan 4 doi: 10.1002/ajh.26828. PMID: 36601682
Patnaik MM
Haematologica 2022 Jul 1;107(7):1503-1517. doi: 10.3324/haematol.2021.279500. PMID: 35236051Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Szuber N, Elliott M, Tefferi A
Am J Hematol 2020 Feb;95(2):212-224. Epub 2019 Dec 30 doi: 10.1002/ajh.25688. PMID: 31769070

Therapy

Chan O, Renneville A, Padron E
Leukemia 2021 Jun;35(6):1552-1562. Epub 2021 Mar 13 doi: 10.1038/s41375-021-01207-3. PMID: 33714974
Patnaik MM, Lasho T
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):460-464. doi: 10.1182/hematology.2020000163. PMID: 33275673Free PMC Article
Szuber N, Elliott M, Tefferi A
Am J Hematol 2020 Feb;95(2):212-224. Epub 2019 Dec 30 doi: 10.1002/ajh.25688. PMID: 31769070
Selimoglu-Buet D, Wagner-Ballon O, Saada V, Bardet V, Itzykson R, Bencheikh L, Morabito M, Met E, Debord C, Benayoun E, Nloga AM, Fenaux P, Braun T, Willekens C, Quesnel B, Adès L, Fontenay M, Rameau P, Droin N, Koscielny S, Solary E; Francophone Myelodysplasia Group
Blood 2015 Jun 4;125(23):3618-26. Epub 2015 Apr 7 doi: 10.1182/blood-2015-01-620781. PMID: 25852055Free PMC Article
Shoenfeld Y, Gurewich Y, Gallant LA, Pinkhas J
Am J Med 1981 Nov;71(5):773-8. doi: 10.1016/0002-9343(81)90363-6. PMID: 7304648

Prognosis

Patnaik MM
Haematologica 2022 Jul 1;107(7):1503-1517. doi: 10.3324/haematol.2021.279500. PMID: 35236051Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Neven Q, Boulanger C, Bruwier A, de Ville de Goyet M, Meyts I, Moens L, Van Damme A, Brichard B
J Clin Immunol 2021 Jan;41(1):51-58. Epub 2020 Oct 4 doi: 10.1007/s10875-020-00883-7. PMID: 33011939
Patnaik MM, Lasho TL
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. PMID: 33275756Free PMC Article
Patnaik MM, Lasho T
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):460-464. doi: 10.1182/hematology.2020000163. PMID: 33275673Free PMC Article

Clinical prediction guides

Hoch J, Burkhard N, Zhang S, Rieder M, Marchini T, Geest V, Krauel K, Zahn T, Schommer N, Hamad MA, Bauer C, Gauchel N, Stallmann D, Normann C, Wolf D, Scharf RE, Duerschmied D, Schanze N
Front Immunol 2023;14:1184010. Epub 2023 Jul 13 doi: 10.3389/fimmu.2023.1184010. PMID: 37520561Free PMC Article
Patnaik MM
Haematologica 2022 Jul 1;107(7):1503-1517. doi: 10.3324/haematol.2021.279500. PMID: 35236051Free PMC Article
Shallis RM, Siddon AJ, Zeidan AM
Curr Hematol Malig Rep 2021 Jun;16(3):276-285. Epub 2021 Apr 22 doi: 10.1007/s11899-021-00632-6. PMID: 33890194
Chan O, Renneville A, Padron E
Leukemia 2021 Jun;35(6):1552-1562. Epub 2021 Mar 13 doi: 10.1038/s41375-021-01207-3. PMID: 33714974
Shoenfeld Y, Gurewich Y, Gallant LA, Pinkhas J
Am J Med 1981 Nov;71(5):773-8. doi: 10.1016/0002-9343(81)90363-6. PMID: 7304648

Recent systematic reviews

Guastafierro V, Ubezio M, Manes N, Milanesi C, Della Porta M, Bonometti A
Leuk Lymphoma 2023 Sep;64(9):1566-1573. Epub 2023 Jul 3 doi: 10.1080/10428194.2023.2227750. PMID: 37395413

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