{"doi":"10.1016/j.jacig.2024.100313","title":"Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency","abstract":"Prompt evaluation and genetic testing of patients who present with recurrent and recalcitrant warts, before onset of severe infection or myelodysplastic syndrome, leads to improved outcomes in patients with GATA2 deficiency. Prompt evaluation and genetic testing of patients who present with recurrent and recalcitrant warts, before onset of severe infection or myelodysplastic syndrome, leads to improved outcomes in patients with GATA2 deficiency. An adopted 14-year-old deaf male was referred to the immunology clinic for a family history of autoimmune disease. His birth history, growth, and development were uncomplicated except for sensorineural hearing loss (SNHL), allergic rhinitis, and persistent warts. The warts developed when the patient was aged 2 years, and they were recalcitrant to treatment. His infectious history was remarkable for yearly sinusitis and otitis media. The patient’s family history was notable for multiple paternal uncles with SNHL and warts. The patient’s biologic father had SNHL and recurrent warts, and he died of presumed pneumonia and an unknown underlying immunologic disease at age 34 years (Fig 1). Of the patient’s 7 paternal uncles, 3 had SNHL (of these 7 uncles, 2 also had recurrent warts). One uncle died at age 32 years after developing cardiac complications during leukemia treatment. Another uncle died at age 46 years after developing an unknown condition that affected his gait. Another uncle with SNHL is still living; his medical history is unknown. Of the patient’s 4 hearing paternal uncles, 1 has a daughter with a cochlear implant. Two of the hearing uncles died of myocardial infarction in their forties and fifties. The patient’s 3 paternal aunts are healthy with healthy daughters. The patient’s biologic mother is still living and has a history of myocardial infarction and stroke. The patient’s full biologic sister has asthma. The patient’s vital signs were normal. He wore a hearing aid and communicated via American Sign Language. His notable physical findings included multiple flat and verrucous papules that ranged from 1 to 10 cm in diameter and were present on his scalp, face, hands, elbows, knees, and feet (Fig 2). Because of the patient’s presentation of recalcitrant warts, recurrent sinusitis, SNHL, and concerning family history, there was suspicion for GATA2 deficiency. The patient’s complete blood count showed marked monocytopenia (total white blood cell, 3.98 K/μL; absolute monocyte count, 50/μL). Mild microcytic anemia was present. Flow cytometry showed nearly absent B cells (8/μL), a low natural killer cell count (17/μL), and low T-cell count (CD3 cell count, 815/μL; CD4 cell count, 383/uL; and CD8 cell count, 366/μL). The patient’s IgG, IgM, and IgE levels were within normal limits (IgG level, 588 mg/dL; IgM level, 183 mg/dL; and IgE level, 3.9 kU/L). The patient’s IgA level was mildly low (34 mg/dL). Specific antibody testing found normal tetanus and diphtheria antibody (0.1 IU/mL) and nonprotective pneumococcal antibody levels (22% ≥1.3 μg/mL). The patient received routine childhood pneumococcal (Prevnar) and diphtheria, tetanus, and pertussis series. His postvaccination titers were not evaluated. His mitogen testing result was normal. Genetic testing ordered at presentation found a pathogenic heterozygous variant (c1180C>T [p.Gln394∗]) in GATA2. Bone marrow biopsy showed hypocellularity for age (10%-40% cellularity) with trilineage maturation. There was no morphologic evidence of dyspoiesis. According to morphologic or flow cytometry analysis, there were no excess blasts. The result of fluorescence in situ hybridization was negative for myelodysplastic syndrome (MDS)-associated chromosomal alterations. GATA2 is involved in hematopoiesis and cellular differentiation. GATA2 deficiency is a syndrome characterized by opportunistic infection and myelodysplasia. Its clinical picture is broad and variable, with different phenotypes even within the same family.1Spinner M.A. Sanchez L.A.","journal":"Journal of Allergy and Clinical Immunology Global","year":2024,"id":480849,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.947,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1320652,"name":"P Strebeck","orcid":null,"position":1,"is_corresponding":false},{"id":1320653,"name":"Andrew D. Tran","orcid":null,"position":2,"is_corresponding":false},{"id":340141,"name":"Jason E. Farrar","orcid":"0000-0003-2148-5839","position":3,"is_corresponding":false},{"id":1004792,"name":"Lauren Appell","orcid":null,"position":4,"is_corresponding":false},{"id":649229,"name":"Arunkumar Modi","orcid":"0000-0002-9323-8979","position":5,"is_corresponding":false},{"id":941186,"name":"Akilah A. Jefferson","orcid":"0000-0001-7190-5518","position":6,"is_corresponding":false},{"id":1320651,"name":"Dieu T. Doan","orcid":null,"position":0,"is_corresponding":true}],"reference_count":7,"raw_metadata":null,"created_at":"2026-07-19T02:07:02.142014Z","pmid":"39221430","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}