A Case Report of an Atypical Presentation of a Humoral Immunodeficiency

A Case Report of an Atypical Presentation of a Humoral Immunodeficiency

Maggard J; Moskowitz S; Dyke G; Patel N; Hostoffer R; Potts B

Journal of Medical Sciences at NEOMED

2024

BACKGROUND: 11-month-old vaccinated male directly admitted by his primary physician for multifocal pneumonia and pleural effusion in the setting of recurrent infection and weight loss. His infectious history was notable for chronic cough, acute COVID-19, MRSA chest wall abscess, osteomyelitis of the left calcaneus, and antibiotic refractory acute otitis media. PATIENT CASE: On presentation, the patient was afebrile without tachycardia, tachypnea, or hypoxia. A respiratory exam revealed fair-good air exchange, intermittent cough, and scattered rhonchi, and wheeze. Weight was 28th percentile (down from 78th percentile 6 weeks prior). Initial laboratory evaluation was significant for WBC 17.2 with 8% eosinophils, CRP 4.6 mg/dL, low IgG (182), IgE (6), and IgA (<5) with mildly elevated IgM (162). Computed tomography chest revealed a large (2.2 x 2 x 3 cm) conglomerate of heterogeneous soft tissue throughout the mediastinum, compressing the main and lobar bronchi; bilateral lower lobe consolidation with early bronchiectasis (Figure 1). Findings were concerning for lymphoproliferative disorder or soft tissue mass, prompting cervical lymph node biopsy, which revealed 98% CD4/CD8+ T-lymphocytes with nearly absent (0.2%) B-cells. Bronchoalveolar lavage (BAL) demonstrated tracheobronchomalacia with thick mucus (Figure 2). Infectious evaluation revealed H. influenzae. Lymphocyte profile had 0% CD19 expression and he had no measurable antibodies to tetanus or diphtheria. ALPS panel, lymphocyte proliferation, T cell mitogen function, and neutrophil oxidative burst were normal. He was treated with ceftriaxone and IVIG with clinical improvement. Following discharge, a primary immunodeficiency genetic panel revealed a mutation in the btk gene (c.83G>A; p.Arg28His), diagnostic of X-Linked agammaglobulinemia. CONCLUSIONS/NOVEL INSIGHTS: Two primary characteristics of XLA are 1) lack of functional plasma cells resulting in absent lymphoid structures and 2) deficiency of all immunoglobulin isotypes. Concurrent infection can alter this classic presentation. Our patient presented with mediastinal, cervical, and axillary lymphadenopathy (absent B cells) in the setting of H. influenzae pneumonia, likely representing an influx of T-cells in response to the lack of a B cell response. It is essential for clinicians to have a high index of suspicion for primary immunodeficiencies, as timely diagnosis can prevent morbidity and mortality. There is no cure for XLA, IVIG (prevention) and aggressive treatment of infections are the mainstay of treatment.

X-linked Agammaglobulinemia; Bruton’s Agammaglobulinemia; Humoral Immunodeficiency; Vaccination; B-cells

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Akron Children’s Hospital

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