title: Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.
abstract: Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies.
authors: Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, c/o Spedali Civili, 25123 Brescia, Italy.
authors: Laura
authors: L
authors: Dotta
authors: Department of Experimental and Clinical Sciences, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, c/o Spedali Civili, 25123 Brescia, Italy. Electronic address: badolato@med.unibs.it.
authors: Raffaele
authors: R
authors: Badolato
mesh_terms: D003937:Diagnosis, Differential; D050989:GATA2 Transcription Factor / Q000172:deficiency; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000276:immunology*; D047908:Intracellular Signaling Peptides and Proteins; D007970:Leukopenia / Q000175:diagnosis*; D008231:Lymphopenia / Q000175:diagnosis; D009000:Monocytes; D009503:Neutropenia / Q000175:diagnosis*; D000081207:Primary Immunodeficiency Diseases; D017346:Protein Serine-Threonine Kinases / Q000172:deficiency; D014860:Warts / Q000175:diagnosis; D000099317:Hippo Kinases
chemical_list: D050989:GATA2 Transcription Factor; D047908:Intracellular Signaling Peptides and Proteins; D017346:Protein Serine-Threonine Kinases; C095566:STK4 protein, human; D000099317:Hippo Kinases
keywords: G6PC3 deficiency; GATA-2 deficiency; Primary immunodeficiency; SCID; STK4 deficiency; WHIM syndrome