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Monocytopenia

MedGen UID:
507013
Concept ID:
C0427544
Finding
Synonym: Low blood monocyte number
SNOMED CT: Monocytopenia (165539005)
 
HPO: HP:0012312

Definition

An decreased number of circulating monocytes. [from HPO]

Conditions with this feature

X-linked severe congenital neutropenia
MedGen UID:
335314
Concept ID:
C1845987
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
Monocytopenia with susceptibility to infections
MedGen UID:
481660
Concept ID:
C3280030
Disease or Syndrome
This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' (614038) (summary by Bigley et al. (2011), Hsu et al. (2011), and Spinner et al. (2014)).
Severe combined immunodeficiency due to CARD11 deficiency
MedGen UID:
767600
Concept ID:
C3554686
Disease or Syndrome
Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013).
Immunodeficiency 32B
MedGen UID:
865178
Concept ID:
C4016741
Disease or Syndrome
Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017).
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
MedGen UID:
1740566
Concept ID:
C5436549
Disease or Syndrome
Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.
Immunodeficiency 97 with autoinflammation
MedGen UID:
1802936
Concept ID:
C5676946
Disease or Syndrome
Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).

Professional guidelines

PubMed

Koster MJ, Lasho TL, Olteanu H, Reichard KK, Mangaonkar A, Warrington KJ, Patnaik MM
Am J Hematol 2024 Feb;99(2):284-299. Epub 2023 Nov 11 doi: 10.1002/ajh.27156. PMID: 37950858
Polderdijk MCE, Heron M, Kuipers S, Rijkers GT
Expert Rev Clin Immunol 2019 Aug;15(8):857-867. Epub 2019 Jul 12 doi: 10.1080/1744666X.2019.1641405. PMID: 31282776
Matutes E, Martínez-Trillos A, Campo E
Best Pract Res Clin Haematol 2015 Dec;28(4):253-63. Epub 2015 Oct 8 doi: 10.1016/j.beha.2015.09.002. PMID: 26614904

Recent clinical studies

Etiology

Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Diamantopoulos PT, Charakopoulos E, Symeonidis A, Kotsianidis I, Viniou NA, Pappa V, Pontikoglou C, Tsokanas D, Drakos G, Kourakli A, Solomou E, Hatzimichael E, Pouli A, Kotsopoulou M, Asmanis E, Dimou M, Panayiotidis P, Papageorgiou S, Vassilopoulos G, Anagnostopoulos A, Vassilakopoulos T, Papadaki H, Galanopoulos A
Sci Rep 2022 Oct 26;12(1):17914. doi: 10.1038/s41598-022-21933-7. PMID: 36289284Free PMC Article
Pehlivan O, Serin SO, Yesil EE, Demirdag F
Clin Lab 2021 Oct 1;67(10) doi: 10.7754/Clin.Lab.2021.210215. PMID: 34655211
Charlier C, Perrodeau É, Leclercq A, Cazenave B, Pilmis B, Henry B, Lopes A, Maury MM, Moura A, Goffinet F, Dieye HB, Thouvenot P, Ungeheuer MN, Tourdjman M, Goulet V, de Valk H, Lortholary O, Ravaud P, Lecuit M; MONALISA study group
Lancet Infect Dis 2017 May;17(5):510-519. Epub 2017 Jan 28 doi: 10.1016/S1473-3099(16)30521-7. PMID: 28139432
Kraut E
Leuk Lymphoma 2011 Jun;52 Suppl 2:50-2. Epub 2011 Apr 19 doi: 10.3109/10428194.2011.570819. PMID: 21504285

Diagnosis

Koster MJ, Lasho TL, Olteanu H, Reichard KK, Mangaonkar A, Warrington KJ, Patnaik MM
Am J Hematol 2024 Feb;99(2):284-299. Epub 2023 Nov 11 doi: 10.1002/ajh.27156. PMID: 37950858
Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Pehlivan O, Serin SO, Yesil EE, Demirdag F
Clin Lab 2021 Oct 1;67(10) doi: 10.7754/Clin.Lab.2021.210215. PMID: 34655211
Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM
J Clin Immunol 2019 Aug;39(6):532-556. Epub 2019 Jul 16 doi: 10.1007/s10875-019-00665-w. PMID: 31313072Free PMC Article
Charlier C, Perrodeau É, Leclercq A, Cazenave B, Pilmis B, Henry B, Lopes A, Maury MM, Moura A, Goffinet F, Dieye HB, Thouvenot P, Ungeheuer MN, Tourdjman M, Goulet V, de Valk H, Lortholary O, Ravaud P, Lecuit M; MONALISA study group
Lancet Infect Dis 2017 May;17(5):510-519. Epub 2017 Jan 28 doi: 10.1016/S1473-3099(16)30521-7. PMID: 28139432

Therapy

McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM
J Clin Invest 2023 Oct 2;133(19) doi: 10.1172/JCI164918. PMID: 37561579Free PMC Article
Cassidy T, Humphries AR, Craig M, Mackey MC
Bull Math Biol 2020 Jul 31;82(8):104. doi: 10.1007/s11538-020-00777-0. PMID: 32737602
Matutes E, Martínez-Trillos A, Campo E
Best Pract Res Clin Haematol 2015 Dec;28(4):253-63. Epub 2015 Oct 8 doi: 10.1016/j.beha.2015.09.002. PMID: 26614904
Baxley A, Akhtari M
Int Immunopharmacol 2011 Nov;11(11):1663-7. Epub 2011 Aug 16 doi: 10.1016/j.intimp.2011.07.024. PMID: 21843660
Kraut E
Leuk Lymphoma 2011 Jun;52 Suppl 2:50-2. Epub 2011 Apr 19 doi: 10.3109/10428194.2011.570819. PMID: 21504285

Prognosis

Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Diamantopoulos PT, Charakopoulos E, Symeonidis A, Kotsianidis I, Viniou NA, Pappa V, Pontikoglou C, Tsokanas D, Drakos G, Kourakli A, Solomou E, Hatzimichael E, Pouli A, Kotsopoulou M, Asmanis E, Dimou M, Panayiotidis P, Papageorgiou S, Vassilopoulos G, Anagnostopoulos A, Vassilakopoulos T, Papadaki H, Galanopoulos A
Sci Rep 2022 Oct 26;12(1):17914. doi: 10.1038/s41598-022-21933-7. PMID: 36289284Free PMC Article
Cassidy T, Humphries AR, Craig M, Mackey MC
Bull Math Biol 2020 Jul 31;82(8):104. doi: 10.1007/s11538-020-00777-0. PMID: 32737602
Charlier C, Perrodeau É, Leclercq A, Cazenave B, Pilmis B, Henry B, Lopes A, Maury MM, Moura A, Goffinet F, Dieye HB, Thouvenot P, Ungeheuer MN, Tourdjman M, Goulet V, de Valk H, Lortholary O, Ravaud P, Lecuit M; MONALISA study group
Lancet Infect Dis 2017 May;17(5):510-519. Epub 2017 Jan 28 doi: 10.1016/S1473-3099(16)30521-7. PMID: 28139432
Matutes E, Martínez-Trillos A, Campo E
Best Pract Res Clin Haematol 2015 Dec;28(4):253-63. Epub 2015 Oct 8 doi: 10.1016/j.beha.2015.09.002. PMID: 26614904

Clinical prediction guides

Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
Mirchandani AS, Jenkins SJ, Bain CC, Sanchez-Garcia MA, Lawson H, Coelho P, Murphy F, Griffith DM, Zhang A, Morrison T, Ly T, Arienti S, Sadiku P, Watts ER, Dickinson RS, Reyes L, Cooper G, Clark S, Lewis D, Kelly V, Spanos C, Musgrave KM, Delaney L, Harper I, Scott J, Parkinson NJ, Rostron AJ, Baillie JK, Clohisey S, Pridans C, Campana L, Lewis PS, Simpson AJ, Dockrell DH, Schwarze J, Hirani N, Ratcliffe PJ, Pugh CW, Kranc K, Forbes SJ, Whyte MKB, Walmsley SR
Nat Immunol 2022 Jun;23(6):927-939. Epub 2022 May 27 doi: 10.1038/s41590-022-01216-z. PMID: 35624205Free PMC Article
Pehlivan O, Serin SO, Yesil EE, Demirdag F
Clin Lab 2021 Oct 1;67(10) doi: 10.7754/Clin.Lab.2021.210215. PMID: 34655211
Patel AA, Zhang Y, Fullerton JN, Boelen L, Rongvaux A, Maini AA, Bigley V, Flavell RA, Gilroy DW, Asquith B, Macallan D, Yona S
J Exp Med 2017 Jul 3;214(7):1913-1923. Epub 2017 Jun 12 doi: 10.1084/jem.20170355. PMID: 28606987Free PMC Article
Charlier C, Perrodeau É, Leclercq A, Cazenave B, Pilmis B, Henry B, Lopes A, Maury MM, Moura A, Goffinet F, Dieye HB, Thouvenot P, Ungeheuer MN, Tourdjman M, Goulet V, de Valk H, Lortholary O, Ravaud P, Lecuit M; MONALISA study group
Lancet Infect Dis 2017 May;17(5):510-519. Epub 2017 Jan 28 doi: 10.1016/S1473-3099(16)30521-7. PMID: 28139432

Recent systematic reviews

Johnson JA, Yu SS, Elist M, Arkfeld D, Panush RS
Clin Rheumatol 2015 Sep;34(9):1643-5. Epub 2015 Mar 5 doi: 10.1007/s10067-015-2905-2. PMID: 25739845

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