Ten pid cases: Genetic diagnosis, management

Omar Hassan

doi:10.35841/ bmcr-9.3.219

Commentary - Biology & Medicine Case Reports (2025) Volume 9, Issue 3

Ten pid cases: Genetic diagnosis, management

Omar Hassan^*

Department of Immunopathology, Cairo Medical University, Cairo, Egypt

*Corresponding Author:: Omar Hassan
Department of Immunopathology
Cairo Medical University, Cairo, Egypt.
E-mail: omar.hassan@cmu.eg

Received : 04-Jul-2025, Manuscript No. AABMCR-219; Editor assigned : 08-Jul-2025, PreQC No. AABMCR-219(PQ); Reviewed : 28-Jul-2025, QC No AABMCR-219; Revised : 06-Aug-2025, Manuscript No. AABMCR-219(R); Published : 15-Aug-2025 , DOI : 10.35841/ bmcr-9.3.219

Citation: Hassan O. Ten pid cases: Genetic diagnosis, management. aabmcr. 2025;09(03):219.

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Introduction

Primary immunodeficiencies (PIDs) represent a complex and heterogeneous group of disorders affecting various components of the immune system, leading to increased susceptibility to infections, autoimmune manifestations, and malignancies. These conditions often present with diverse clinical symptoms, making early and accurate diagnosis challenging yet critical for effective management and improved patient outcomes. Here, we review a series of ten distinct case reports that highlight the wide spectrum of PIDs, emphasizing their varied presentations, diagnostic complexities, and the evolving strategies for personalized treatment. The first case report details a combined immunodeficiency in a child, specifically attributed to DOCK8 deficiency. This condition manifested prominently with persistent skin infections. The findings from this case underscore the extensive and varied clinical spectrum observed in primary immunodeficiencies, while also stressing the critical need for precise genetic diagnosis. This diagnostic clarity is essential for guiding targeted treatment approaches and ultimately improving patient prognosis [1].

Next, a separate report describes a case of Common Variable Immunodeficiency (CVID), a condition characterized by impaired antibody production. This particular patient presented with a dual challenge: both autoimmune thrombocytopenia and a history of recurrent infections. This case highlights the complex interplay of immune dysregulation and auto-immunity often seen in CVID patients, which can complicate diagnosis. It also underscores the necessity of a comprehensive management strategy to enhance the patient's quality of life [2].

An infant diagnosed with Severe Combined Immunodeficiency (SCID) is the focus of another report. This infant exhibited an unusual eosinophilia, a higher-than-normal count of eosinophils, alongside severe recurrent infections. This presentation emphasizes the crucial importance of early SCID diagnosis, even when clinical signs are atypical. Timely intervention, such as hematopoietic stem cell transplantation, is paramount for ensuring an improved prognosis in such severe cases [3].

Another article reports a case of X-linked hyper-IgM syndrome, found to be caused by a novel mutation in the CD40LG gene. This finding brings to light the genetic heterogeneity inherent in this primary immunodeficiency. It also highlights the significant diagnostic value of genetic sequencing, as identifying specific mutations is crucial for guiding appropriate management strategies and providing essential genetic counseling for affected families [4].

A case study focusing on a one-month-old infant with Wiskott-Aldrich Syndrome (WAS) revealed a severe combined immunodeficiency phenotype. This report emphasizes the inherent diagnostic challenges faced in early infancy when symptoms can be non-specific. It also illustrates the broad clinical spectrum of WAS, stressing the urgent need for rapid genetic confirmation to guide life-saving therapies, including hematopoietic stem cell transplantation [5].

Moving on, a report details a case of Chronic Granulomatous Disease (CGD). This patient's condition was complicated by a disseminated Bacillus Calmette-Guérin (BCG) infection, which occurred following vaccination. This case starkly highlights the severe vulnerability of CGD patients to intracellular pathogens. It also reinforces the critical importance of early diagnosis and the implementation of appropriate prophylactic measures to prevent such life-threatening infections [6].

Another case report describes an infant diagnosed with IPEX syndrome, an X-linked primary immunodeficiency resulting from FOXP3 mutations. This report underscores the multi-systemic autoimmune manifestations that are characteristic of IPEX. Furthermore, it stresses the necessity of prompt diagnosis through genetic testing to facilitate timely immunosuppressive treatment or hematopoietic stem cell transplantation, both vital for improving prognosis [7].

A patient with 22q11.2 deletion syndrome, also known as DiGeorge syndrome, is described as presenting with an atypical T-cell immunodeficiency and elevated IgE levels. This case highlights the considerable variability in the immunological phenotype observed within DiGeorge syndrome. It points to the importance of a thorough immune evaluation to develop tailored management strategies, particularly concerning infection prevention and treatment [8].

Moreover, a case report features an adult patient who developed multi-system manifestations due to a gain-of-function mutation in STAT3, ultimately leading to immunodeficiency. The findings from this case underscore the complex pathophysiology associated with STAT3 gain-of-function disorders. They also highlight the crucial need for precision medicine approaches, including targeted immunomodulatory therapies, to achieve improved patient outcomes in these rare conditions [9].

Finally, a case report describes a patient with Selective IgA Deficiency (SIgAD), who presented with both recurrent infections and multiple autoimmune disorders. This case elucidates the increased susceptibility to autoimmune conditions frequently observed in individuals with SIgAD. It strongly emphasizes the need for comprehensive screening and proactive management for associated comorbidities to enhance the patient’s overall quality of life [10].

These collective case reports underscore the diverse clinical and genetic landscape of primary immunodeficiencies. They consistently highlight the critical role of advanced diagnostic techniques, particularly genetic sequencing, for identifying underlying causes. The insights gained from these individual patient experiences are invaluable, guiding clinicians toward more precise, individualized treatment strategies. Ultimately, a deeper understanding of these rare conditions through detailed case studies is paramount for advancing care, preventing severe complications, and significantly improving the long-term prognosis and quality of life for affected individuals.

Conclusion

This dataset presents ten distinct case reports on various primary immunodeficiencies (PIDs), illustrating the broad range of clinical manifestations and diagnostic complexities inherent in these conditions. One report highlights DOCK8 deficiency in a child, leading to persistent skin infections and underscoring the necessity of genetic diagnosis for effective treatment. Another case describes Common Variable Immunodeficiency (CVID) presenting with both autoimmune thrombocytopenia and recurrent infections, emphasizing the intricate immune dysregulation in CVID and the need for comprehensive management. We also see an infant with Severe Combined Immunodeficiency (SCID) exhibiting unusual eosinophilia alongside recurrent infections, reinforcing the importance of early diagnosis, even with atypical presentations, for timely interventions like hematopoietic stem cell transplantation. A novel CD40LG mutation caused X-linked hyper-IgM syndrome, showcasing the genetic heterogeneity of PIDs and the value of genetic sequencing for guiding management and counseling. Wiskott-Aldrich Syndrome (WAS) in a one-month-old infant, displaying a severe combined immunodeficiency phenotype, brings to light diagnostic challenges in early infancy and the critical need for rapid genetic confirmation for life-saving therapies. Chronic Granulomatous Disease (CGD) complicated by disseminated Bacillus Calmette-Guérin (BCG) infection post-vaccination emphasizes the severe vulnerability of CGD patients to intracellular pathogens and the importance of early diagnosis and prophylaxis. IPEX syndrome diagnosed in infancy, an X-linked primary immunodeficiency due to FOXP3 mutations, underscores its multi-systemic autoimmune manifestations and the necessity of genetic testing for prompt treatment. A patient with 22q11.2 deletion syndrome (DiGeorge syndrome) presented with atypical T-cell immunodeficiency and elevated IgE, highlighting the variable immunological phenotype and the need for thorough immune evaluation. A gain-of-function mutation in STAT3 led to immunodeficiency with multi-system manifestations in an adult, pointing to the complexity of STAT3 disorders and the need for precision medicine. Finally, Selective IgA Deficiency (SIgAD) with recurrent infections and multiple autoimmune disorders showcases increased susceptibility to autoimmune conditions in SIgAD, stressing comprehensive screening for comorbidities. These cases collectively emphasize the critical role of early, precise genetic diagnosis and tailored management in improving outcomes for patients with diverse primary immunodeficiencies.