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Coeliac disease and multiple immunodeficiencies: case report of a diagnostic dilemma
Sabiha Anis1, Rajesh Kumar, Zaigham Abbas
1Department of Molecular Biology and Immunology, Dewan Farooq Medical Centre, Sindh Institute of Urology and Transplantation, Karachi, Pakistan. sabiha_anis@hotmail.com
Insights
This case report details a patient with coeliac disease (CD) and an unusual co-occurrence of primary immunodeficiency (PID), specifically natural killer cell deficiency. The complex presentation underscores the need to investigate PID in autoimmune cases.
Area of Science:
- Immunology
- Gastroenterology
- Clinical Medicine
Background:
- Coeliac disease (CD) is an autoimmune disorder often associated with other immune conditions.
- Primary immunodeficiency diseases (PID) can present with recurrent infections and autoimmunity.
- The coexistence of CD and PID presents diagnostic and management challenges.
Observation:
- A patient initially diagnosed with CD showed a poor response to standard treatment.
- Recurrent opportunistic infections prompted an investigation into immunodeficiency.
- The patient exhibited natural killer (NK) cell deficiency and low immunoglobulin levels (IgA, IgG2).
Findings:
- The case highlights an unusual presentation of CD coexisting with PID.
- Natural killer cell deficiency was identified as a key factor in the patient's susceptibility to infections.
- Low serum IgA and IgG2 levels were noted alongside the NK cell deficiency.
Implications:
- This case emphasizes the importance of considering PID in patients with refractory CD or recurrent infections.
- Early investigation of PID in autoimmune patients can lead to timely diagnosis and management.
- Understanding the interplay between CD and PID is crucial for improving patient outcomes.
Abstract:
Coeliac disease (CD) often coexists with other autoimmune and primary immunodeficiency diseases (PID), creating a problem in timely diagnosis and management. An unusual case of coeliac disease that was difficult to diagnose and manage because of its unusual clinical presentation. Initially diagnosed as celiac disease but showed poor response to standard therapy is reported. Frequent attacks of opportunistic infections led to immunodeficiency work-up that revealed natural killer cell (NK) deficiency with low serum IgA and IgG2 levels. The patient eventually succumbed to recurrent infections. The co-existence of PID is unusual in a patient with CD. This case report highlights the importance of investigating PID in patients with autoimmunity.
