Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient

Gunderman, Lauren M; Brown, J. J.; Chaudhury, Sonali; O’Gorman, Maurice R.G.; Fuleihan, Ramsay; Khanolkar, Aaruni; Ahmed, Aisha Siddiqah

doi:10.3390/biomedicines11030959

Cited by 3 publications

(5 citation statements)

References 23 publications

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Section: Reviewmentioning

confidence: 99%

“…X-linked immunodeficiency with hyper immunoglobulin M (IgM) is a rare PID characterized by a defect in the immune system's ability to produce IgM antibodies [ 11 ]. This condition primarily affects males and is caused by mutations in the CD40 ligand (CD40L) gene located on the X chromosome [ 11 ]. The main diagnostic criteria for X-linked immunodeficiency with hyper IgM include low levels of IgG and immunoglobulin A (IgA) antibodies, high levels of IgM antibodies, and an impaired ability to mount an adequate immune response to infections [ 11 ].…”

Section: Reviewmentioning

confidence: 99%

“…This condition primarily affects males and is caused by mutations in the CD40 ligand (CD40L) gene located on the X chromosome [ 11 ]. The main diagnostic criteria for X-linked immunodeficiency with hyper IgM include low levels of IgG and immunoglobulin A (IgA) antibodies, high levels of IgM antibodies, and an impaired ability to mount an adequate immune response to infections [ 11 ]. The treatment for X-linked immunodeficiency with hyper IgM primarily involves the administration of immunoglobulin replacement therapy to replace the deficient antibodies [ 11 ].…”

Section: Reviewmentioning

confidence: 99%

“…The main diagnostic criteria for X-linked immunodeficiency with hyper IgM include low levels of IgG and immunoglobulin A (IgA) antibodies, high levels of IgM antibodies, and an impaired ability to mount an adequate immune response to infections [ 11 ]. The treatment for X-linked immunodeficiency with hyper IgM primarily involves the administration of immunoglobulin replacement therapy to replace the deficient antibodies [ 11 ]. Furthermore, specific treatment strategies may be tailored to the individual based on the severity and specific manifestations of the disorder [ 11 ].…”

Section: Reviewmentioning

confidence: 99%

“…The treatment for X-linked immunodeficiency with hyper IgM primarily involves the administration of immunoglobulin replacement therapy to replace the deficient antibodies [ 11 ]. Furthermore, specific treatment strategies may be tailored to the individual based on the severity and specific manifestations of the disorder [ 11 ].…”

Section: Reviewmentioning

confidence: 99%

See 4 more Smart Citations

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

Peddi,

Vuppalapati,

Sreenivasulu

et al. 2023

Cureus

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Primary immunodeficiency disorders (PIDs) are a heterogeneous group of genetic conditions profoundly impacting immune function. The investigation spans various PID categories, offering insights into their distinct pathogenic mechanisms and clinical manifestations. Within the adaptive immune system, B-cell, T-cell, and combined immunodeficiencies are dissected, emphasizing their critical roles in orchestrating effective immune responses. In the realm of the innate immune system, focus is directed toward phagocytes and complement deficiencies, underscoring the pivotal roles of these components in initial defense against infections. Furthermore, the review delves into disorders of immune dysregulation, encompassing hemophagocytic lymphohistiocytosis (HLH), autoimmune lymphoproliferative syndrome (ALPS), immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX), and autoimmunity polyendocrinopathy candidiasis-ectodermal dystrophy(APECED), elucidating the intricate interplay between immune tolerance and autoimmunity prevention. Diagnostic strategies for PIDs are explored, highlighting advancements in genetic and molecular techniques that enable precise identification of underlying genetic mutations and alterations in immune function. We have also outlined treatment modalities for PIDs, which often entail a multidisciplinary approach involving immunoglobulin replacement, antimicrobial prophylaxis, and, in select cases, hematopoietic stem cell transplantation. Emerging therapies, including gene therapy, hold promise for targeted interventions. In essence, this review encapsulates the complexity of PIDs, emphasizing the critical importance of early diagnosis and tailored therapeutic interventions. As research advances, a clearer understanding of these disorders emerges, fostering optimism for enhanced patient care and management in the future.

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Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

See 3 more Smart Citations

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

Peddi,

Vuppalapati,

Sreenivasulu

et al. 2023

Cureus

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Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

et al. 2023

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Background Chronic Granulomatous Disease (CGD) is a primary immunodeficiency that causes susceptibility to recurrent fungal and bacterial infections. The CYBB gene encodes gp91phox component of the Phagocytic Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase and specifically, X-linked CGD is caused by mutations in the CYBB gene, located on the X chromosome. The aim of the study was to characterize functional and genetic mutations in X-linked CGD. Methods Functional analysis was conducted on the whole blood of seventeen male individuals who were suspected to have X-linked chronic granulomatous disease (CGD). Flow cytometry was employed to assess the capacity of NADPH oxidase, measuring both H2O2 production and gp91phox protein expression in neutrophils. Additionally, DNA Sanger sequencing was performed for genetic analysis. The pathogenicity of novel mutations was assessed by pathogenicity prediction tools. Result Among the seventeen patients evaluated, five patients (P1, P2, P3, P4, and P5) displayed impaired H2O2 production by their neutrophils upon stimulation with Phorbol myristate acetate (PMA), accompanied by abnormal gp91phox expression. DNA sequencing of the CYBB gene identified specific mutations in each patient. In P1 and P2 (previously reported cases), a hemizygous missense mutation, c.925G > A/p.E309K was identified. In P3 and P4 (novel cases), hemizygous nonsense mutations, c.216T > A/p.C72X were found. Lastly, in P5 (also a novel case), a hemizygous missense mutation, c.732T > G/p.C244W was detected. These mutations reside in exons 9,3 and 7 of the CYBB gene, respectively. Conclusions The current study contributes to the understanding of the clinical and genetic spectrum associated with X-linked chronic granulomatous disease (CGD). It highlights the significance of early diagnosis in CGD and emphasizes the importance of lifelong prophylaxis to prevent severe infections.

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Diplomate in Medical Laboratory Immunology Certification Examination: A New Chapter for Medical Laboratory Immunology

Khanolkar,

Spiczka,

Bonfield

et al. 2023

ImmunoHorizons

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It is indeed a privilege to be an immunologist in what is arguably the golden age of immunology. From astounding advances in fundamental knowledge to groundbreaking immunotherapeutic offerings, immunology has carved out an enviable niche for itself in basic science and clinical medicine. The need and the vital importance of appropriate education, training, and certification in clinical immunology was recognized by the World Health Organization as far back as 1972. In the United States, Ph.D. scientists with board certification in medical laboratory immunology have served as directors of high-complexity Clinical Laboratory Improvement Amendments– and College of American Pathologists–certified clinical immunology laboratories since 1977. From 1977 to 2017, board certification for medical laboratory immunology was administered by the American Society for Microbiology through the American Board of Medical Laboratory Immunology examination. The American Board of Medical Laboratory Immunology examination was phased out in 2017, and in the fall of 2019, the American Society for Clinical Pathology (ASCP) Board of Certification (BOC) examination committee took on the responsibility of developing a new doctoral-level certification examination for medical laboratory immunology. This transition to the ASCP BOC represents a well-deserved and much-needed recognition of the rapid advances in and the highly specialized nature of medical laboratory immunology and its ever-increasing relevance to patient care. This new ASCP BOC certification is called the Diplomate in Medical Laboratory Immunology, and, as of April 1, 2023, it is now available to potential examinees. In this report, we describe the examination, eligibility routes, and potential career pathways for successful diplomates.

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Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient

Cited by 3 publications

References 23 publications

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

Diplomate in Medical Laboratory Immunology Certification Examination: A New Chapter for Medical Laboratory Immunology

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