Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults.

PURPOSE: Common variable immunodeficiency (CVID) is the most prevalent symptomatic immunodeficiency in adults. Little is known about the manifestations of CVID presenting in older adults. Herein, we performed a phenotypic characterization of patients diagnosed older than age 40. METHODS: A retrospective chart review of 79 patients seen at UF Health between 2006 and 2020 with a verified diagnosis of CVID per the ICON 2016 criteria was conducted. Patients were classified according to four phenotypes: no-disease-related complications, autoimmune cytopenias, polyclonal lymphoproliferation, and unexplained enteropathy. Patients diagnosed with CVID from age 2 to 40 (n = 41, "younger cohort") were compared to patients diagnosed with CVID age 41 and older (n = 38, "older cohort"). RESULTS: Among the younger cohort, pathologic genetic variants, positive family history for immunodeficiency, autoimmunity (49% vs 24%, p = 0.03), and splenomegaly (46% vs 16%, p = 0.004) were more common, as was the "autoimmune cytopenias" phenotype (24% vs 3%, p = 0.007). Among the older cohort, lymphoma (11% vs 0%, p = 0.049) and the "no disease-related complications" phenotype (79% vs 57%, p = 0.03) were more commonly seen. Comorbidities such as bronchiectasis (27% vs 21%, p = 0.61), GI involvement (34% vs 24%, p = 0.33), and GLILD (5% vs 8%, p = 0.67) were equally present among both the younger and older cohorts, respectively. CONCLUSION: The lower incidence of autoimmunity and splenomegaly, as well as overlapping clinical features with immunosenescence, may make diagnosing CVID in older patients more challenging; however, the disease is not more indolent as the risks for lymphoma, bronchiectasis, and GLILD are similar to those of younger patients.

An Unusual Transition from Cutaneous to Systemic Mastocytosis in a Pediatric Patient.

Background: Cutaneous mastocytosis (CM) occurs when abnormal mast cells accumulate in the skin, whereas in systemic mastocytosis (SM), accumulation also occurs in other tissues. A transition from CM to SM is an atypical occurrence in pediatric patients. Case Presentation: An 8-month-old female presented with a 3-month history of whole body hyperpigmented macules with a normal serum tryptase level, consistent with a diagnosis of CM. At age 2.5 years, cutaneous lesions increased and repeat serum tryptase levels were elevated. Subsequent positive peripheral blood KIT D816V mutation testing furthered concern for a monoclonal mast cell disorder; therefore, prompting a bone marrow biopsy which was consistent with a diagnosis of SM. Conclusion: Our case depicts the possible transition from CM to SM in a pediatric patient. Despite an initial presentation consistent with a diagnosis of CM, watchful monitoring for signs and symptoms indicative of systemic involvement may be warranted in some pediatric patients.

Clinical Presentation of Schnitzler's Syndrome: A Rare Autoimmune Disease.

Schnitzler's Syndrome (SS) is a rare late-onset acquired autoinflammatory disorder which consists of chronic urticaria associated with a monoclonal IgM-kappa gammopathy, arthralgias, skeletal hyperostosis, lymphadenopathy, and recurrent constitutional symptoms. The average age of diagnosis is 51 years with a slight male predominance with a male to female ratio of 1.6. Diagnosis of SS requires the presence of 2 major criteria including chronic urticaria and monoclonal IgM along with at least two of the following minor criteria: recurrent intermittent fevers, bone pain, arthralgias, elevated erythrocyte sedimentation rate (ESR), neutrophilic dermal infiltrate on skin biopsy, and leukocytosis or elevated C-reactive protein (CRP). Early diagnosis and clinical awareness are paramount in SS as it is associated with a 15-20% risk of lymphoproliferative malignancy. The median overall survival is 12.8 years. We present a case of a 39-year-old female with new onset urticaria associated with recurrent fevers and joint pain. Symptoms were refractory to steroids, and high dose antihistamines. Multi-disciplinary evaluation resulted in the ultimate diagnosis of Schnitzler's Syndrome. The patient was ultimately treated with canakinumab (Il-1 inhibitor), with near resolution of symptoms. This case demonstrates the importance of a broad differential diagnosis and maintaining a high clinical suspicion for rare diseases when presented with a complex form of an otherwise common condition.

Dupilumab-Associated Head and Neck Dermatitis With Ocular Involvement in a Ten-Year-Old With Atopic Dermatitis: A Case Report and Review of the Literature.

Facial and neck erythema secondary to dupilumab use is a side effect not reported in clinical trials; however, it has been reported aftermarket initially in adults and most recently in adolescents. We report the youngest known case of head and neck dermatitis (HND) secondary to Malassezia furfur accompanied by ocular involvement. Treatment with oral fluconazole 150 mg weekly was initiated with subsequent cutaneous improvement. Additionally, his conjunctivitis improved with fluorometholone 0.1% eye drops. As dupilumab becomes more accessible to children, understanding the pathophysiology of HND, characterizing the clinical course, and developing diagnostic and treatment guidelines for this age group will be imperative.

Sensibilidad antibiótica de cepas de Haemophilus spp aisladas de pacientes pediátricos en un hospital general entre los años 2003-2006 / Antibiotic sensitivity of Haemophilus spp strains isolated from pediatric patients at a general hospital during 2003 to 2006

Objetivo: Determinar la sensibilidad antibiótica de cepas de Haemophilus spp aisladas de pacientes pediátricos en unhospital general entre los años 2003 y 2006. Materiales y métodos: Estudio descriptivo retrospectivo en el que seincluyeron cultivos positivos de Haemophilus spp. Se revisaron las historias clínicas de los pacientes de los cuales provenían los cultivos. Resultados: Se encontraron 37 cultivos positivos para Haemophilus spp, entre los cuales se encontró mayor sensibilidad a levofloxacino (100%), ampicilina/sulbactam (92%), carbapenems (95%) y ciprofloxacino (85%). La sensibilidad a los antibióticos más usados contra esta bacteria fue menor: ampicilina (73%), ceftriaxona (77%), cloramfenicol (78%) y azitromicina (62%). Se comparó la resistencia de las cepas que causaron neumonía y meningoencefalitis, encontrándose similar sensibilidad a lo ya presentado. En relación a losfactores asociados a resistencia a antibióticos específicos no se encontró diferencias importantes por tratarse degrupos pequeños, pues de los 37 cultivos, sólo se encontraron 18 historias clínicas. Conclusión: La resistencia a antibióticos de primera línea (ampicilina y cloramfenicol) es baja. Ampicilina/sulbactam es el antibiótico que presentó menor resistencia. Se necesitan estudios más amplios para determinar factores asociados a resistencia.

Objective: To determine the antibiotic sensitivity of Haemophilus spp strains isolated from pediatric patients at ageneral hospital during 2003 to 2006. Material and methods: We conducted a descriptive, retrospective study. Weinclude Haemophilus spp positive cultures, as well as the medical charts of the patients which those cultures wereisolated from. Results: 37 positive cultures were found; the greatest sensitivity was recorded with levofloxacin (100%), ampicillin/sulbactam (92%), carbapenems (95%) and ciprofloxacin (85%). Sensitivity to the most commonly used antibiotics was lower: for ampicillin (73%), for ceftriaxone (77%), for cloramphenicol (78%) and for azithromycin (62%). Comparison of antibiotic resistance between strains which caused pneumonia andmeningoencefalitis was made, and results were similar to those already presented. When looking for associatedfactors to antibiotic resistance, no significant differences were found because of the small groups (only 18 charts of 37 positive cultures were found). Conclusions: The resistance to first-line antibiotics is relatively low. Ampicillin/sulbactam is the antibiotic with less resistance. Bigger studies are needed to determine relevant associated factors.