Skeletal and Joint Manifestations of Primary Immunodeficiency Diseases

Gharib, Asal

doi:10.15226/2372-0948/4/1/00145

Cited by 9 publications

(4 citation statements)

References 127 publications

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“…One plausible explanation would be an underlying immunodeficiency. In their recent summary of the skeletal and joint manifestations of primary immunodeficiencies, Gharib and Gupta found osteomyelitis to be the most common diagnosis [ 11 ]. Meanwhile, Xu et al recently described a case of Mycobacterium avium scalp osteomyelitis caused by anti-interferon- γ -associated immunodeficiency [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Pathologic Femur Fracture in an Immunocompetent Healthy Young Adult due to Acute Osteomyelitis

Goyette,

Georgantzoglou,

Kerr

et al. 2023

Case Reports in Pathology

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An immunocompetent 33-year-old woman presented with a pathologic femur fracture after one month of progressively worsening right thigh pain. Open biopsy demonstrated acute suppurative osteomyelitis despite the lack of clinical risk factors. The polymicrobial infection was successfully treated with three operative procedures and culture-specific antibiotic agents. Acute osteomyelitis, while an uncommon cause of pathologic fracture, must always be on the differential diagnosis, even when no obvious predisposing factors are present. When investigating for an infectious etiology in cases such as our own, considering immunodeficiency syndromes alongside the more typical causes of osteomyelitis is encouraged.

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Section: Discussionmentioning

confidence: 99%

Pathologic Femur Fracture in an Immunocompetent Healthy Young Adult due to Acute Osteomyelitis

Goyette,

Georgantzoglou,

Kerr

et al. 2023

Case Reports in Pathology

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“…Early age of presentation 25 Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder due to disturbance of DNA repair mechanism. Essential features found in NBS were microcephaly, typical facial appearance, immunodeficiency, chromosomal instability, and predisposition to malignancy.…”

Section: Atypical Presentationmentioning

confidence: 99%

Primary Immunodeficiency Disorders (PIDs) and its Rheumatologic Manifestations Mohammad Imnul Islam

Islam

2024

Bangladesh J Child Health

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The hallmark of Primary Immunodeficiency Disorders (PIDs) is increased susceptibility to recurrent infections, which are often poorly responsive to therapy, prolonged and life-threatening. The infections can involve bones and joints. PIDs may also predispose to allergic, autoimmune, autoinflammatory and malignant disorders. Arthritis is the most common rheumatological manifestation of PIDs. Recurrent septic arthritis, arthritis with increased susceptibility to infection, skeletal changes, autoimmune disease or systemic lupus erythematosus with negative antinuclear antibody (ANA) are the essential clinical clues that could be considered rheumatologic manifestations of PIDs. This is considerable concern that early detection of PIDs patients invariably improves the quality of life and life expectancy through the prompt implementation of appropriate medical intervention. BANGLADESH J CHILD HEALTH 2022; VOL 46 (2) : 82-85

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“…[ 3 ] Children with auto-immunity/auto-inflammation often are seen by the rheumatologists and the incidence of IEI in rheumatology clinic populations was found to be between 14% and 22%. [ 4 5 ]…”

Section: Introductionmentioning

confidence: 99%

“…As the biological treatment for rheumatic diseases would aggravate the immune deficiency states and lead to morbidity/mortality, it is very important to have a high suspicion for IEI in patients who present with early onset, atypical, refractory rheumatological manifestations. [ 5 ] In this case series, we discuss our patients who presented with initial rheumatological manifestations and were later diagnosed with an underlying IEI.…”

Section: Introductionmentioning

confidence: 99%

Rheumatological Presentation of Inborn Errors of Immunity in Children: A Case Series from a Tertiary Care Center

Koneru,

Kumaresan,

Jayaraman

et al. 2024

Annals of African Medicine

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Inborn errors in immunity (IEI), well known as primary immunodeficiency diseases (PID) in children, have a varied spectrum of presentation. As the normal immune development is key for programming various cell responses in the body, IEI results in significant infections due to defective cell function, auto-immunity, or auto-inflammatory syndromes due to loss of self-tolerance and immune dysregulation and predisposition to lymphoid malignancies due to the defective tumor surveillance by the lymphocytes or natural killer cells. High index of suspicion and knowledge of the myriad presenting features are very important for appropriate timely diagnosis and management. We present four children with B-cell immunodeficiency syndromes with initial presentation including arthritis or auto-immunity.

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Skeletal and Joint Manifestations of Primary Immunodeficiency Diseases

Cited by 9 publications

References 127 publications

Pathologic Femur Fracture in an Immunocompetent Healthy Young Adult due to Acute Osteomyelitis

Pathologic Femur Fracture in an Immunocompetent Healthy Young Adult due to Acute Osteomyelitis

Primary Immunodeficiency Disorders (PIDs) and its Rheumatologic Manifestations Mohammad Imnul Islam

Rheumatological Presentation of Inborn Errors of Immunity in Children: A Case Series from a Tertiary Care Center

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