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.

Amanpreet Kalkat

Olivia Humpel

Robert Hostoffer

Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia

This letter illustrates a case of toxic epidermal necrolysis (TEN) after COVID-19 mRNA-1273 vaccination, which corresponds with the existing published data and contributes detailed knowledge of TEN reaction after vaccination. Interestingly, the reaction started at the site of vaccination and the patient went on to tolerate a major excipient of the vaccine suggesting the reaction may be associated with the mRNA itself or is triggered by the immunostimulatory action of the vaccine.

Nicole Hehr

Benjamin P. Davis

Toxic Epidermal Necrolysis after COVID-19 mRNA-1237 Vaccination

Pernicious anemia is an autoimmune disease caused by the malabsorption of vitamin B12. It usually appears in the elderly. People with trisomy 21 are susceptible to autoimmune diseases. This susceptibility is thought to be due to altered expression of the AIRE gene, which is located in the 21q22.3 region. Although pernicious anemia is not common in people with trisomy 21, AIRE is pointed out as a susceptibility gene of pernicious anemia in a genome-wide association study. Here, we report a man with trisomy 21, who suffered from the pernicious anemia. When he was in his 30 s, he visited our hospital because of diarrhea and poor oral intake. He showed thrombocytopenic purpura-like features, and was diagnosed as pernicious anemia. After supplementation of vitamin B12, he recovered from the illness. The reason for his early onset may be because of trisomy 21. Altered expression of AIRE might trigger the disease.

Kentaro Kamada

Osamu Kawano

Satoshi Yakuwa

Kentaro Wakasa

Kimiaki Uetake

Pernicious Anemia in an Adult with Trisomy 21

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.

Lauren Reinhold

Stephen Lynch

Carl B. Lauter

Simon R. Dixon

Andrew Aneese

A Heart Gone Bananas: Allergy-Induced Coronary Vasospasm due to Banana (Kounis Syndrome)

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.

T. W. Hoffman

H. L. Leavis

B. M. Smits

L. T. van der Veken

D. A. van Kessel

Prolonged Disease Course of COVID-19 in a Patient with CTLA-4 Haploinsufficiency

Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. Conclusion. Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease.

Gulcin Aytac

Burcu Guven

Ilyas Aydin

Ezgi Topyildiz

Ayca Aykut

Asude Durmaz

Neslihan Edeer Karaca

Guzide Aksu

Necil Kutukculer

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

Background. Drug reaction with eosinophilia and systemic symptoms (DRESSs) syndrome is an idiosyncratic drug-induced reaction that rarely occurs in children but can lead to serious complications. It manifests most commonly with fever, extensive skin eruptions, and eosinophilia. Symptoms typically develop two to six weeks after the initiation of the inciting drug. Visceral organ involvement especially the liver can also occur and if not recognized early and the inciting drug is not stopped immediately, it can lead to liver failure. Therefore, early diagnosis is important but can be very challenging because of disease rarity, lack of a diagnostic test, and its overlap with other common pediatric allergic and infectious conditions. Case Presentation. A 2.5-year-old boy with known diagnosis of cystic fibrosis, bilateral bronchiectasis, pancreatic insufficiency, and chronic airway colonization with Pseudomonas aeruginosa was admitted to our hospital with acute pulmonary exacerbation of CF lung disease. He was treated with intravenous piperacillin-tazobactam and intravenous amikacin in addition to airway clearance. On day 18 of treatment, the patient developed high grade fever followed by diffuse erythematous and pruritic maculopapular rash. Blood tests showed high eosinophilia, high C-reactive protein (CRP), and high liver enzymes levels. The clinical features and the laboratory findings were consistent with the DRESS syndrome. Therefore, all antibiotics were discontinued. Progressive resolution of the symptoms was observed within two days. Laboratory abnormalities were also normalized in the follow-up clinic visit 4 months later. Conclusion. Our case demonstrates the importance of early recognition of the DRESS syndrome in children who develop fever and skin rashes with eosinophilia while undergoing long-term antibiotic treatment. Prompt discontinuation of the offending drug is the cornerstone therapy and results in the resolution of symptoms and prevention of serious complications.

Ahmed Abushahin

Haneen Toma

Sara G. Hamad

Mutasim Abu-Hasan

Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome in a Child with Cystic Fibrosis

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Case Reports in Immunology publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.

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Case Reports in Immunology - Table of contents 2023

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Case Reports in Immunology publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.

Case Reports in Immunology