Combined immunodeficiencies (CIDs) are inherited disorders affecting T and/or B cell function, presenting with recurrent infections, autoimmunity, and severe allergic disease [1].
To highlight atopy as a manifestation of CID and to outline feasible management in resource-limited settings.
A female infant developed severe atopic dermatitis by week two of life. By 2 months, she was hospitalized repeatedly for bronchiolitis, diarrhea, and oral thrush. At 15 months, she was diagnosed with asthma and allergic rhinitis; her symptoms remained uncontrolled despite standard therapies. She exhibited multiple food allergies and required a restrictive diet. At 18 months, she had severe chest infections, necessitating intravenous antibiotics. Growth was normal; physical examination revealed pallor and turbinate hypertrophy.
Initial evaluations revealed iron deficiency anemia with normal WBC counts. Hypogammaglobulinemia: IgG: 284 mg/dL (330–1,160 mg/dL); normal IgE: 18.67 kU/L; normal IgM: 101 mg/dL; IgA: 122 mg/dL; allergy workup: polysensitization. At 18 months: (1) leukopenia: WBC – 2.6 × 103 cells/mm3 (ref range: 3.0–9.5 × 103); (2) moderate neutropenia: 0.83 × 103 cells/mm3; (3) lymphopenia: 1.56 × 103 cells/mm3 (ref range 3.0–9.5 × 103). Lymphocyte subset analysis showed a reduction in: (1) CD3+ T cells: 875 cells/µL (2,100–6,200); (2) CD4+ T cells: 450 cells/µL (1,300–3,400); (3) CD8+ T cells: 415 cells/µL (620–2,000); (4) CD19+ B cells: 524 cells/µL (720–2,600); (5) CD16+/56+ NK cells: 88 cells/µL (180–920). HLA typing showed the mother as a haploidentical match.
She was initially labeled as transient hypogammaglobulinemia and started azithromycin prophylaxis. Progressive symptoms led to a CID diagnosis. She was given prophylactic antimicrobials. IVIG was added, but faced many difficulties. Hematopoietic stem cell transplantation (HSCT) was recommended but unavailable.
This case highlights the importance of considering CID in infants with severe atopy [2]. In resource-limited settings, CBC, immunoglobulin levels, and lymphocyte phenotyping aid early recognition. Antibiotic prophylaxis and IVIG reduce infections while awaiting HSCT [3]. Infection control measures and nutritional assistance help decrease complications. Genetic testing, when accessible, confirms diagnosis and guides therapy [4].
Acknowledgements
The authors thank the patient’s family for their cooperation and the clinical team at AL Mubarak Specialized Hospital for their support.
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