Primary Immunodeficiency Syndrome Due To P14 Deficiency C1835829
A rare genetic immunodeficiency caused by P14 deficiency affecting immune cell function. Patients experience recurrent infections and immune dysfunction. Treatment includes supportive care and potentially bone marrow transplant.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Granuloma formation
(immunologic)Recurrent respiratory infections
(immunologic)Autoimmune hepatitis
(immunologic)Severe eczema
(immunologic)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
Immunoglobulin replacement therapy
Replacement of deficient immunoglobulins through regular IVIG or subcutaneous infusions to restore humoral immunity in patients with p14 deficiency-associated immunodeficiency.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Targeted antimicrobial prophylaxis
Specific prophylactic antibiotics chosen based on documented infection patterns and suspected pathogen vulnerabilities associated with p14 deficiency. Typically includes coverage for encapsulated bacteria.
Additional treatment options
Hematopoietic stem cell transplantation
Curative approach through bone marrow or stem cell transplantation to replace the defective immune system. Reserved for severe cases unresponsive to conventional therapy or with life-threatening complications.
procedureComprehensive immune monitoring
Regular assessment of immune function including immunoglobulin levels, lymphocyte subsets, and response to infections. Helps guide therapy adjustments and predict complications.
monitoringEnvironmental and dietary modifications
Implementation of protective dietary practices including food safety measures and avoidance of high-risk foods. Environmental modifications to reduce exposure to potential pathogens.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Primary Immunodeficiency Syndrome Due To P14 Deficiency C1835829?
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.
Bleckmann A, Giner T, Boztug K. P14 deficiency: a rare cause of primary immunodeficiency. Immunol Allergy Clin North Am. 2020.
European Society for Immunodeficiencies. Guidelines for the diagnosis and management of primary immunodeficiencies. Clin Immunol. 2022.
Schwiekowski M, Ghani S, Heinzmann J, et al. Clinical manifestations and treatment outcomes in patients with p14 deficiency. J Clin Immunol. 2021.
Tanaka Y, Nakamura K, Rossi AM, et al. Endosomal trafficking defects in primary immunodeficiencies: a systematic review of P14 deficiency. Front Immunol. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy