Second part

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-24. https://doi.org/10.1038/gim.2015.30

Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, et al. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Haematologica. 2018;103:1278-87. https://doi.org/10.3324/haematol.2017.181909

Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42:1508-20. https://doi.org/10.1007/s10875-022-01352-z

Wang JJF, Dhir A, Hildebrand KJ, Turvey SE, Schellenberg R, Chen LYC, et al. Inborn errors of immunity in adulthood. Allergy Asthma Clin Immunol. 2024;20:6. https://doi.org/10.1186/s13223-023-00862-8

Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018;66:367-80. https://doi.org/10.1007/s12026-018-8996-5

Fernandes-Pineda M, Matta-Cortés L, Zea-Vera A. Errores innatos de la inmunidad. Acta Médica Colombiana. 2023;49. https://doi.org/10.36104/amc.2024.3092

Giraldo-Ocampo S, Bonelo A, Zea-Vera AF. B cell subsets in Colombian adults with predominantly antibody deficiencies, bronchiectasis or recurrent pneumonia. Adv Respir Med. 2022;90:254-66. https://doi.org/10.3390/arm90040035

Cirillo E, Giardino G, Ricci S, Moschese V, Lougaris V, Conti F, et al. Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity. J Allergy Clin Immunol. 2020;146:967-83. https://doi.org/10.1016/j.jaci.2020.08.010

Carneiro-Sampaio M, Moraes-Vasconcelos D, Kokron CM, Jacob CMA, Toledo-Barros M, Dorna MB, et al. Primary Immunodeficiency diseases in different age groups: A report on 1,008 cases from a single Brazilian reference center. J Clin Immunol. 2013;33:716-24. https://doi.org/10.1007/s10875-013-9865-6

Rosenberg E, Dent PB, Denburg JA. Primary immune deficiencies in the adult: A previously underrecognized common condition. J Allergy Clin Immunol Pract. 2016;4:1101-7. https://doi.org/10.1016/j.jaip.2016.09.004

Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, et al. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. J Allergy Clin Immunol. 2021;148:1332-41.e5. https://doi.org/10.1016/j.jaci.2021.04.015

Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, et al. Monogenic adult-onset inborn errors of immunity. Front Immunol. 2021;12. https://doi.org/10.3389/fimmu.2021.753978

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020;40:66-81. https://doi.org/10.1007/s10875-020-00758-x

Rosenberg E, Dent PB, Denburg JA. Primary immune deficiencies in the adult: A previously underrecognized common condition. J Allergy Clin Immunol Pract. 2016;4:1101-7. https://doi.org/10.1016/j.jaip.2016.09.004

Fabozzi F, Mastronuzzi A, Ceglie G, Masetti R, Leardini D. GATA2 deficiency: Focus on immune system impairment. Front Immunol. 2022;13. https://doi.org/10.3389/fimmu.2022.865773

Biron CA, Byron KS, Sullivan JL. Severe herpesvirus infections in an adolescent without natural killer cells. N Engl J Med. 1989;320:1731-5. https://doi.org/10.1056/NEJM198906293202605

Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: Myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703-19. https://doi.org/10.1038/s41375-022-01613-1

Cohen JI. GATA2 deficiency and Epstein-Barr virus disease. Front Immunol. 2017;8. https://doi.org/10.3389/fimmu.2017.01869

Calvo KR, Hickstein DD. The spectrum of GATA2 deficiency syndrome. Blood. 2023;141:1524-32. https://doi.org/10.1182/blood.2022017764

Chou J, Lutskiy M, Tsitsikov E, Notarangelo LD, Geha RS, Dioun A. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014;134:223-6. https://doi.org/10.1016/j.jaci.2014.01.041

Haddox CL, Carr RM, Abraham RS, Pérez-Botero J, Rodríguez V, Pardanani A, et al. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: A comprehensive kindred study. Leuk Lymphoma. 2019;60:3282-6. https://doi.org/10.1080/10428194.2019.1633630

Amarnani AA, Poladian KR, Marciano BE, Daub JR, Williams SG, Livinski AA, et al. A panoply of rheumatological manifestations in patients with GATA2 deficiency. Sci Rep. 2020;10:8305. https://doi.org/10.1038/s41598-020-64852-1

Santiago M, Liquori A, Such E, Zúñiga Á, Cervera J. the clinical spectrum, diagnosis, and management of GATA2 deficiency. Cancers (Basel). 2023;15:1590. https://doi.org/10.3390/cancers15051590

Bresnick EH, Jung MM, Katsumura KR. Human GATA2 mutations and hematologic disease: How many paths to pathogenesis? Blood Adv. 2020;4:4584-92. https://doi.org/10.1182/bloodadvances.2020002953

Bruzzese A, Leardini D, Masetti R, Strocchio L, Girardi K, Algeri M, et al. GATA2 related conditions and predisposition to pediatric myelodysplastic syndromes. Cancers (Basel). 2020;12:2962. https://doi.org/10.3390/cancers12102962

Holland SM. GATA2 in bone marrow failure. Blood. 2017;130:SCI-23-SCI-23. https://doi.org/10.1182/blood.V130.Suppl_1.SCI-23.SCI-23

Parta M, Shah NN, Baird K, Rafei H, Calvo KR, Hughes T, et al. Allogeneic hematopoietic stem cell transplantation for GATA2 deficiency using a busulfan-based regimen. Biol Blood Marrow Transplant. 2018;24:1250-9. https://doi.org/10.1016/j.bbmt.2018.01.030