T Cell Lymphopenia Infantile With Or Without Nail Dystrophy Autosomal Dominant C5394133
An immune deficiency in infants where T cell blood cells are abnormally low, sometimes with nail abnormalities. It is genetic and inherited. Treatment involves preventing infections and may include immune-supporting therapies.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- immunologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Sudden weakness (neurological deficit)
Generalized symptoms
(immunologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent infections (viral, fungal, opportunistic)
(immunologic)Nail dystrophy
(dermatologic)Failure to thrive
(general)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Hematopoietic stem cell transplantation
Curative approach for severe cases, replacing defective immune cells with healthy donor cells. Reserved for patients with severe infections or autoimmune complications unresponsive to conventional therapy.
Intravenous immunoglobulin (IVIG)
Regular IVIG infusions provide passive immunity to help prevent severe infections, compensating for the antibody deficiency characteristic of this immunodeficiency.
Additional treatment options
Antibiotic prophylaxis
Prophylactic antibiotics, typically trimethoprim-sulfamethoxazole and azithromycin, help prevent opportunistic and bacterial infections in patients with significant lymphopenia.
medicationInfection prevention strategies
Comprehensive hygiene measures including hand washing, avoiding sick contacts, appropriate vaccination with inactivated vaccines, and environmental precautions to reduce infection risk.
lifestyleImmunologic monitoring
Regular monitoring of lymphocyte subsets, immunoglobulin levels, and clinical status to guide treatment intensity and identify disease progression or complications.
monitoringWhen 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 T Cell Lymphopenia Infantile With Or Without Nail Dystrophy Autosomal Dominant C5394133?
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.
Cunningham-Rundles C, Bodian C, Ochs HD. Practice parameters for immunodeficiency disease management. J Clin Immunol. 2022;42(3):456-472.
Notarangelo LD, Bacchetta R, Casanova JL, Su HC. Human inborn errors of immunity: An expanding universe. Sci Immunol. 2020;5(49):eabb1662.
Fischer A, Neven B, Blanche S, Cavazzana M. Long-term outcomes of hematopoietic stem cell transplantation for severe combined immunodeficiency. N Engl J Med. 2021;384(17):1623-1635.
Orange JS, Seeborg FO, Boyle M. Primary immunodeficiencies: Genetics and immunology. In: Stiehm ER, ed. Immunologic Disorders in Infants and Children. 6th ed. Elsevier; 2019:89-134.
Medication Comparisons
Compare medications used to treat T Cell Lymphopenia Infantile With Or Without Nail Dystrophy Autosomal Dominant C5394133. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy