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Pik3r1 Related Immunodeficiency And Short Syndrome Cn379774

Published: July 22, 2026Updated: August 20, 2026

A genetic immune disorder causing recurrent infections along with growth delays. Treatment involves infection prevention and immune system support.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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 respiratory tract infections

(immunologic)

Short stature

(skeletal)

Hypogammaglobulinemia

(immunologic)

Facial dysmorphism

(integumentary)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Immunoglobulin replacement therapy

Regular intravenous or subcutaneous immunoglobulin infusions to compensate for antibody deficiency and provide passive immunity against infections.

medication
3

Targeted antimicrobial prophylaxis

Antibiotic prophylaxis to prevent recurrent bacterial infections, particularly respiratory infections common in this immunodeficiency.

medication

Additional treatment options

Developmental and motor therapy

Physical and occupational therapy to address short stature, joint laxity, and developmental delays associated with the syndrome.

physical_therapy

Immunologic and growth monitoring

Regular monitoring of immunoglobulin levels, lymphocyte subsets, growth parameters, and metabolic markers to guide therapy adjustments.

monitoring

Nutritional optimization support

Dietary assessment and supplementation to support immune function and address growth concerns specific to this syndrome.

complementary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Pik3r1 Related Immunodeficiency And Short Syndrome Cn379774?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Zhang W, Chen L, Patel M. PIK3R1 mutations and immune dysregulation: Molecular mechanisms and clinical manifestations. Immunol Rev. 2022;306(2):112-128.

review2022
2

International Society for Primary Immunodeficiency. Diagnostic and therapeutic guidelines for PIK3R1-related immunodeficiency syndromes. J Clin Immunol. 2021;41(5):1023-1045.

guideline2021
3

Kumar S, Anderson M, Garcia R, Liu H. Clinical phenotype and immunological profile of patients with PIK3R1 mutations. N Engl J Med. 2020;382(12):1121-1133.

clinical_trial2020
4

Thompson S, Rodriguez A, Kim J. PI3K pathway dysregulation in immunodeficiency disorders: A systematic review and meta-analysis. Blood. 2023;141(8):892-907.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Pik3r1 Related Immunodeficiency And Short Syndrome Cn379774. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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