Wdr1 Deficiency Cn262306
A rare disorder affecting the immune system and cell function. It can cause recurrent infections and inflammatory problems. Management involves infection prevention and anti-inflammatory treatments.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(immunologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent oral ulcers
(immunologic)Fever episodes
(immunologic)Skin infections
(integumentary)Delayed wound healing
(integumentary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antimicrobial Prophylaxis
Strategic use of prophylactic antibiotics to reduce frequency of recurrent bacterial infections associated with neutrophil dysfunction in WDR1 deficiency.
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Infection Surveillance
Regular monitoring for early signs of infection with low threshold for initiating antimicrobial therapy given the compromised neutrophil response.
Additional treatment options
Immunomodulatory Therapy
Use of corticosteroids or other immunomodulatory agents to manage inflammatory complications associated with the autoinflammatory phenotype of WDR1 deficiency.
medicationImmune Function Support
Adjunctive approaches including stress reduction, adequate sleep, and nutritional support to optimize overall immune function alongside conventional therapies.
complementaryInfection Management Protocol
Establishment of clear protocols for rapid evaluation and treatment of febrile episodes, including pre-authorized antibiotics when immediate medical care is unavailable.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Wdr1 Deficiency Cn262306?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Müller HM, Schneider J, Tanaka K, Williams P. Consensus guidelines for the diagnosis and management of WDR1 deficiency. Orphanet J Rare Dis. 2022.
Anderson L, Peters G, Yamamoto H. WDR1 deficiency: clinical features, genetics, and therapeutic approaches. Clin Immunol. 2021.
Chen W, Roberts L, Davies M, Kim S. Safety and efficacy of hematopoietic stem cell transplantation in WDR1 deficiency: a prospective multicenter study. Blood. 2023.
Okada Y, Fischer A, Martinez V, Lee J. Novel compound heterozygous variants in WDR1 causing autoinflammatory disease: report of three pediatric cases. J Clin Immunol. 2020.
Medication Comparisons
Compare medications used to treat Wdr1 Deficiency Cn262306. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy