23 documents found, page 1 of 3

Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene

C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of...

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure...

Precision Medicine: The Use of Tailored Therapy in Primary Immunodeficiencies

Primary immunodeficiencies (PID) are rare, complex diseases that can be characterised by a spectrum of phenotypes, from increased susceptibility to infections to autoimmunity, allergy, auto-inflammatory diseases and predisposition to malignancy. With the introduction of genetic testing in these patients and wider use of next-Generation sequencing techniques, a higher number of pathogenic genetic variants and co...

Lemierre Syndrome in a Teenager Presenting as Pulmonary Septic Embolism

Lemierre syndrome is easily missed and may be more common than generally believed. Usually a complication of a deep neck abscess, it can present suddenly with shortness of breath and hypoxemia. Accurate diagnosis and orientation are mandatory for the treatment of an otherwise potentially life-threatening disease. We describe a case of an adolescent with Lemierre syndrome and septic pulmonary embolism.

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation...

In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndr...

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

Congenital Nephrotic Syndrome in IL7Rα-SCID: A Rare Feature of Maternofetal Gra...

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation...

In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndr...

Characterization of the Clinical and Immunologic Phenotype and Management of 15...

Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. Methods: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for ...

X-Linked Agammaglobulinemia (XLA):Phenotype, Diagnosis, and Therapeutic Challen...

X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features.