Case Reports in Immunology最新文献

Paraphenylenediamine (PPD) is a well-known culprit allergen in the literature and clinical practice. Although this has been described in temporary tattoos, the definite implication of PPD in permanent tattoos has not been described. We report a patient who developed severe allergic contact dermatitis (ACD) requiring skin grafting after receiving a permanent tattoo with ink containing PPD. A 30-year-old female with a past history of atopic dermatitis and psoriasis presented with a 2-week history of cutaneous reaction to a recent tattoo. The patient noticed inflammation and irritation of the tattoo site the day after administration. The patient was previously identified on patch testing to have a PPD allergy after evaluation for dermatitis after hair dye application. Following the tattoo placement, she applied soap and bacitracin cream which she had used several years prior on a similar tattoo. On presentation 2 weeks later, she was found to have a deep ulcerated plaque with an indurated border encompassing the area of the tattoo. She was referred to the emergency department and admitted for treatment, ultimately requiring debridement and skin grafting. The patient obtained the safety data sheets for the tattoo inks which revealed PPD as an ingredient in every color. We believe this is the first confirmed case of PPD being implicated as the causative agent for ACD to a permanent tattoo. Tattoo ink is unregulated, and formulas are proprietary which makes safe practice difficult for patients with sensitivities. We advocate for consistent ingredient labeling, regulation, and transparency within the tattoo ink industry.

Background: Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic abnormalities, and immunodeficiency. As reported in previous studies, DADA2 may be manifested by ischemic or hemorrhagic strokes. This disorder also includes various hematological manifestations (pure red cell aplasia, pancytopenia, hemolytic anemia, and pancytopenia with bone marrow involvement). Case Presentation. In this case report, we present the clinical and immunological findings of two unrelated patients with DADA2. The first patient was a 7-year-old female who experienced recurrent neurological symptoms such as vertigo, tinnitus, hearing loss, and right-sided hemiparesis. Her brain magnetic resonance imaging (MRI) revealed a left-sided stroke, and she responded well to antitumor necrosis factor alpha agents and plasmapheresis. The second patient was a 6-year-old female who had recurrent fever and bicytopenia, aphthous lesions, cervical lymphadenopathy, and elevated liver enzymes. We also discussed the strategies used to manage the clinical manifestations in these two DADA2 patients.

Conclusion: In this case report, we discussed two cases with DADA2 deficiency and their respective manifestations. The first case showed neurological symptoms while the second case had hematological symptoms. Although there is no established treatment for DADA2 due to its rarity, steroids are commonly used to treat this disorder. Antitumor necrosis factor is also effective in controlling the symptoms, especially the neurological ones. In cases where there is no appropriate response to these treatments, hematopoietic stem cell transplantation can be beneficial.

SAPHO syndrome is a complex disease that encompasses both inflammatory arthritis and/or osteitis and dermatologic manifestations. It is considered a rare disease, in fact, no clinical trials have been conducted on its therapy and management. Therefore, therapeutic approach is based on small case studies. Here, we described the case of a 63-year-old woman affected by SAPHO syndrome, treated with the selective IL-23p19 antagonist, Risankizumab, after unsuccessful therapies with Methotrexate, Infliximab, Adalimumab, and an allergic reaction to Secukinumab. At the beginning of therapy, in November 2022, the patient presented with arthritis in both knees associated with palmar pustulosis and guttate psoriasis on the trunk. DAPSA score was 24, PtGA 80 mm, PASI score 11.1, and BSA 40%. Thereafter, Risankizumab was started at the standard dosage of 150 mg. At week 24 patient achieved clinical remission, DAPSA score was 8, PtGA was 30 mm, PASI was 1, and BSA 2.5. Patient maintained clinical remission state at the subsequent week 52 evaluation. At the same time, the patient did not report any adverse effects. Health-related quality of life was also assessed at the same time points aforementioned, showing significant improvement. In conclusion, this case report wants to point out the efficacy and safety of Risankizumab in SAPHO syndrome, reporting a sustained disease remission through a 12 months long follow-up period. We can consider IL-23p19 targeted therapy as a novel treatment option for SAPHO-with a high efficacy potential-especially on patients that have already been treated with other biologics.

There is growing evidence that infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to dysregulation of the immune system and, consequently, the development of autoimmune phenomena. Here, we describe the case of a 75-year-old woman with rheumatic manifestations characterized by intense musculoskeletal pain and stiffness in the neck and shoulders, with sudden onset and with the inability to raise her arms. The patient was admitted with severe pain located in the neck and shoulders. Previously, she had oropharyngeal pain, severe fatigue, and fever; a real-time polymerase chain reaction test for COVID-19 was positive. Two weeks later, the patient presented localized musculoskeletal pain in the neck and shoulders. Relevant laboratory results included an erythrocyte sedimentation rate of 46 mm/hr and a negative rheumatoid factor test; ultrasound findings with bilateral subacromial-subdeltoid bursitis were observed. A diagnosis of polymyalgia rheumatica (PMR) was initially made according to the EULAR/ACR provisional classification criteria for PMR; however, due to C-reactive protein negativity, the diagnosis was established based on symptoms. Management was with prednisone at the dose of 25 mg/day for 4 weeks and progressive reduction until prednisone suspension. The patient showed complete recovery at 6 months of follow-up. In this case, COVID-19 was implicated in the development of autoimmune and inflammatory rheumatic manifestations. PMR is a rare rheumatic condition that should be included in the wide range of rheumatologic manifestations expressed post-SARS-CoV-2 infection.

The Castleman triad has been described in a select few patients presenting with a retroperitoneal mass, mucocutaneous pemphigus vulgaris, and bronchiolitis obliterans. Here, we describe the Castleman triad in a 19-year-old male with unicentric hyaline vascular type Castleman disease (HV-CD). This patient presented with an array of positive antibodies, including anti-cyclic citrullinated peptide, anti-double-stranded DNA, and Sjogren's IgG. Interestingly, the patient's rheumatologic symptoms resolved after tumor resection, while his antibody profile remained relatively unchanged. HV-CD, with a triad presentation, was thought to be from a paraneoplastic syndrome secondary to an underlying lymphoproliferative disorder. The findings presented here identify multiple autoantibodies potentially contributing to this patient's presentation with HV-CD.

X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton's tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-old male with a longstanding common variable immunodeficiency diagnosis on infusion therapy presented to the clinic with cutaneous T-cell lymphoma, which inspired overall repeat evaluation. Immunoglobulin levels and lymphocyte markers, family history, and genetic testing prompted a true diagnosis of XLA and novel mutation in the BTK gene. Disease-associated mutations have been noted in all five domains of BTK, with missense variants most commonly cited among the 100s of reported genetic alterations. The BTK protein is expressed in hematopoietic lineages and plasma cells, with the exception of T lymphocytes. Disruption in the protein function or absence of BTK halts normal B cell development at the pre-B transitional cell stage and induces premature apoptosis. We present the first reported case of a novel hemizygous BTK c.1492C > G mutation in a patient causing XLA.

Patients with primary immunodeficiencies are especially vulnerable to developing severe coronavirus disease 2019 (COVID-19) after infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an important regulator of immune responses, and patients who suffer from CTLA4 haploinsufficiency have hyperactivation of effector T cells and infiltration of various organs. Overexpression of CTLA4 has been associated with a more severe disease course in patients with COVID-19, but there have only been a few reports on the disease course of COVID-19 in patients with CTLA4 haploinsufficiency. We report on a 33-year-old female with a history of immune thrombocytopenia, autoimmune haemolytic anaemia, granulomatous-lymphocytic interstitial lung disease, and common variable immunodeficiency who developed COVID-19. She was admitted and discharged from the hospital several times in the months thereafter and remained symptomatic and had a positive SARS-CoV-2 PCR for up to 137 days after the first symptoms. No SARS-CoV-2 antibodies were identified in the patients' serum. The disease was finally controlled after repeated infusions of convalescent plasma and treatment of concurrent bacterial and fungal infections. Genetic analysis revealed a likely pathogenic variant in CTLA4, and CTLA4 expression on regulatory T-cells was low. This case illustrates that patients with primary immunodeficiencies who have a protracted disease course of COVID-19 could benefit from convalescent plasma therapy.

Kounis syndrome encompasses a variety of cardiovascular signs and symptoms associated with mast cell activation in the setting of allergic or hypersensitivity and anaphylactic or anaphylactoid insults. It can manifest as coronary vasospasm, coronary, or in-stent thrombosis, and acute myocardial infarction with plaque rupture. Various medications as well as foods including fish, shellfish, mushroom, kiwi, and rice pudding have been implicated as causal agents. We present what we believe to be the first documented case of Kounis syndrome manifesting as coronary vasospasm as the result of an allergy to banana. This case highlights the importance of considering allergic causes of angina and allergy referral in a patient with known atopy and an otherwise negative cardiovascular workup. It also emphasizes to consider food allergy, especially banana, as a cause of Kounis syndrome.