Monocytopenia with susceptibility to infections

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.



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Total: 11 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
3
(4.0%)		 21242295
(3039861)
 The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.
Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M.
J Exp Med. 2011;208(2):227-34.
Monocytopenia
CD14 CD1A CD34 CD4 FCGR3A IL2RA
rs387906629 rs387906631 rs768767517 rs869320668
Adult Bone Marrow Cells CD Antigens Child Dendritic Cells Enzyme-Linked Immunosorbent Assay Flow Cytometry HLA-DR Antigens Homo sapiens Leukopenia Microscopy, Fluorescence Monocytes Mycobacterium Infections Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0012312 Monocytopenia 6
HP:0002721 Immunodeficiency 2
HP:0002863 Myelodysplasia 2
HP:0000821 Hypothyroidism 1
HP:0001297 Stroke 1
HP:0001875 Neutropenia 1
HP:0001876 Pancytopenia 1
HP:0001909 Leukemia 1
HP:0002664 Neoplasm 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GATA2 GATA binding protein 2 2624