Nezelof Syndrome

Extremely rare severe immune deficiency disorder characterized by T-cell deficiency with little or no abnormality of γ-globulin. Clinical features include failure to thrive, recurrent lung infections, and metaphyseal dysostosis.

Immune Defect Resulting from Absence of Thymus; Severe Combined Immunodeficiency, Nezelof Type.

Genetic disorder first reported by C. Nezelof, a French pediatrician, in 1964.

Autosomal recessive inheritance; some X-linked reports.

Abnormal expression of CD44 (an adhesion molecule, interacting with the matrix ligands hyaluronan and fibronectin) could interfere with normal thymocyte and thymic epithelial interaction, leading to abnormal thymocyte differentiation.

Clinically evocated in patients with recurrent infections and normal humoral immunity.

Failure to thrive is common. Main clinical features can include metaphyseal dysostosis, chronic diarrhea, hepatosplenomegaly, eczematoid rash, and pyoderma. Recurrent pseudomonas and monilia infections are frequent, particularly bronchopulmonary infections. Bronchiectasis and emphysema are often observed. Susceptibility to viral infections. Immunologic features are remarkable: absent thymus, T-cell deficiency, impaired antibody synthesis, cellular immune defect, decreased lymphoid tissue while plasma cells are present, impaired delayed hypersensitivity with poor skin graft rejection. Humoral immunity is normal, as is the immunoglobulin level. Lymphopenia is observed.

Evaluate immunologic status (obtain full, documented history of infection, complete immunologic status evaluation). Evaluate respiratory function (clinical, chest radiographs/CT, pulmonary function test, arterial blood gas analysis). Evaluate hydration and renal function in case of severe chronic diarrhea (clinical, laboratory tests, including urea and creatinine levels and electrolytes). Preoperative full blood count is recommended.

Strict asepsis is needed considering the immunity defect. Preoperative hydration correction might be necessary preoperatively. Perioperative respiratory monitoring and physiotherapy can be useful, and postoperative mechanical ventilatory support may be anticipated if necessary.

Prophylactic antibiotics may be adapted to immunologic status and previous infections.

Bruton Agammaglobulinemia Tyrosine Kinase X-linked: Tonsillar system is absent.

Swiss-type Agammaglobulinemia: Thymus and tonsillar system are absent.

DiGeorge Syndrome: Parathyroids and thymus are absent.