P3.M256: GATA-2 Deficiency Unveiled: A Multifaceted Presentation in an Adolescent with Mycobacterial Infection and Pulmonary Alveolar Proteinosis

Introduction: GATA-2 deficiency is a rare, autosomal dominant immune disorder characterized by a broad spectrum of symptoms, including pulmonary alveolar proteinosis (PAP) and susceptibility to infections[1]. This case report highlights the importance of considering GATA-2 deficiency in differential diagnoses for patients presenting with infectious and pulmonary symptoms, emphasizing a multidisciplinary approach to diagnosis and management.

Case Description: A 16-year-old girl with a history of asthma presented with fever, fatigue, and cough, initially misdiagnosed as upper respiratory and urinary tract infections. Despite treatment, her condition deteriorated, leading to hospital admission. Investigations revealed bicytopenia, diffuse bilateral lung infiltrates (See Image 1), and a positive Karius test for Mycobacterium abscessus. Further extensive workup, including genetic testing, confirmed GATA-2 deficiency and Trisomy 8, necessitating referral for specialized care. The patient's complex medical history, including profound hearing loss and past surgeries, added layers to her clinical management. This case underscores the significance of comprehensive evaluation in atypical presentations, especially when common infections are ruled out.
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Discussion: GATA-2 deficiency's wide-ranging impact on the immune system often leads to severe infections, hematological abnormalities, and lung disease [1]. This case illustrates the disorder's diverse manifestations, from pulmonary alveolar proteinosis suggested by chest imaging and bronchoalveolar lavage findings to severe mycobacterial infection. Early and accurate diagnosis is crucial, as it guides targeted therapy and management strategies, including the potential for hematopoietic stem cell transplantation [2]. The variability within families and the association with other anomalies, such as Trisomy 8, highlight the genetic complexity and need for personalized treatment plans [3, 4].
GATA-2 deficiency should be considered in patients with unexplained infections, hematologic abnormalities, and pulmonary disease, particularly when standard treatments fail [2, 3]. This case emphasizes the necessity of a thorough and multidisciplinary approach to diagnosis and treatment, incorporating genetic testing for a definitive diagnosis. Awareness and understanding of this rare condition can improve patient outcomes through timely and appropriate interventions.

Conclusion: This case report delineates the diagnostic journey and management of an adolescent with GATA-2 deficiency, presenting with complex pulmonary and infectious symptoms. GATA-2 deficiency, a rare genetic disorder, poses significant challenges due to its wide-ranging effects on the immune system, leading to severe and recurrent infections, hematologic abnormalities, and lung diseases. The importance of considering rare genetic conditions in differential diagnoses is underscored, especially in cases with unusual clinical presentations. Early recognition and comprehensive genetic testing are pivotal for accurate diagnosis and appropriate management, which can significantly improve patient outcomes. This case contributes to the growing body of literature on GATA-2 deficiency, emphasizing the necessity for heightened awareness and a multidisciplinary approach to care for affected individuals.