Nezelof syndrome

MeSH: C536288ORPHA: 83471

Overview

Human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Nezelof syndrome, sourced from HPO and Orphanet clinical annotations.

Eczematoid dermatitisAplasia of the thymusRecurrent infectionsSevere T-cell immunodeficiencyCellular immunodeficiencyDecreased total T cell countDecreased mitogen-induced T-cell proliferationDecreased naive T cell proportionFailure to thrivePneumoniaRecurrent bacterial infectionsAutoimmunityRecurrent infection of the gastrointestinal tractOpportunistic infectionSevere viral infectionSevere infectionRecurrent urinary tract infectionsSinusitisChronic otitis mediaHypothyroidismMeningitisDiarrheaMalabsorptionLymphadenopathyRecurrent Staphylococcus aureus infectionsHypocalcemic tetanyCoombs-positive hemolytic anemiaRecurrent streptococcus pneumoniae infectionsCombined immunodeficiencyRecurrent candida infectionsChronic oral candidiasisInvasive fungal infectionOligoclonal T cell expansionThyroiditisSepsisAtypical or prolonged hepatitis

Classification & Codes

MeSH Code

C536288

Orphanet Code

ORPHA:83471
Nezelof syndrome
MeSHC536288
OrphanetORPHA:83471
Treatments0 drug(s)
Symptoms on record36 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Nezelof syndrome | OrphanDrug