Primary Immunodeficiency Evaluation Note

Encounter Details

Date/Time: [Encounter date and time]

Location/Setting: [Clinic/Hospital name]

Note Type: Initial immunodeficiency evaluation

Author: [Clinician name, credentials]

Referral Source: [Referring clinician/service] — Reason: [Referral reason]

Patient: [Name] | MRN: [MRN] | DOB: [DOB] | Age: [Age]

Sex at birth: [male / female / other] | Preferred language: [Language] | Interpreter used: [Yes / No / Not required]

Historian(s): [Patient / Parent/guardian / Caregiver] | Reliability: [Good / Fair / Limited] (If limited, state why)

Records reviewed from: [Source list] (If none available, state "None available"; if inaccessible, state "Not available for review")

Chief Concern / Referral Question

[Chief concern in patient/caregiver words]

[Specific referral question, e.g., evaluate recurrent pneumonias for antibody deficiency; evaluate low IgG on screening labs]

History of Present Illness

[Summary sentence: Age, sex at birth, key comorbidities, suspected immune problem, dominant infection or dysregulation pattern, and onset/trajectory]

Infection History Pattern

[Narrative describing infection burden: onset and change over time; anatomic sites involved; severity markers (hospitalizations/ICU/bacteremia/invasive disease/IV antibiotics/complications); pathogens (unusual/opportunistic/encapsulated/vaccine-preventable); treatment response; quantified frequency; procedures suggesting chronic infection (tympanostomy tubes/sinus surgery/chronic suppressive antibiotics); evidence of end-organ damage (bronchiectasis/chronic sinus disease/hearing loss)]

Key infection episodes (chronologic):

• [Date/Age] — [Site]: [Organism if known] — [Treatment/level of care] — [Outcome/complications]
• [Date/Age] — [Site]: [Organism if known] — [Treatment/level of care] — [Outcome/complications]
• (Add additional entries as needed)

Immune Dysregulation Features

• Autoimmunity: [Present / Absent / Unknown] — [Details: cytopenias, thyroid disease, arthritis]
• Lymphoproliferation: [Present / Absent / Unknown] — [Details: lymphadenopathy, splenomegaly, granulomatous disease]
• Enteropathy/FTT/Chronic diarrhea: [Present / Absent / Unknown] — [Details]
• Severe atopy/eczema: [Present / Absent / Unknown] — [Details]
• Recurrent warts/molluscum or severe herpesvirus disease: [Present / Absent / Unknown] — [Details]
• Chronic mucocutaneous candidiasis: [Present / Absent / Unknown] — [Details]
• Malignancy history: [Present / Absent / Unknown] — [Type/timing/treatment]

Vaccine History and Response

• Vaccines received: [Pneumococcal/Hib/Tdap/DTaP/Meningococcal/MMR/Varicella/other] (Include series completion status and dates if available)
• Breakthrough infections post-vaccination: [Present / Absent / Unknown] — [Details] (Label as "patient-reported" if not corroborated)
• Adverse events to vaccines: [None / Minor / Severe] — [Details; note reactions to live vaccines]
• Prior serologies/titers (baseline): [Antigen, date, result/units]
• Post-vaccine challenge titers: [Antigen, date, result/units] (Only include if completed)
• Eligibility for diagnostic vaccine challenge: [Eligible / Not eligible / Deferred] — [Constraints: recent IGRT, recent anti-B-cell therapy, contraindications to live vaccines] — [Planned timeline]

Secondary Immunodeficiency Risk Review

• Immunosuppressive medications: [Systemic steroids dose/duration; biologics (anti-CD20/anti-TNF/JAK inhibitors); chemotherapy; transplant immunosuppression] — [Last dose dates]
• Protein loss conditions: [Nephrotic syndrome / Protein-losing enteropathy / None] — [Status and supporting data]
• Malignancy: [CLL / Lymphoma / Myeloma / Thymoma / None] — [Diagnosis date/treatment/status]
• Chronic infections: [HIV status/result date] — [HBV/HCV if relevant]
• Asplenia/functional hyposplenia: [Present / Absent / Unknown] — [Etiology and evidence]
• Comorbid lung/anatomic contributors: [Bronchiectasis/CF/PCD/aspiration/anatomic abnormalities] — [Details]
• Data missing to exclude secondary causes: [List pending/missing data]

Patient Goals and Functional Impact

[Missed work/school; repeated ER visits; antibiotic intolerance; quality of life concerns; preferences for therapy route/site if IGRT likely]

Prior Workup and Data Reviewed

Records reviewed: [Institutions/portals/record types] | Requested but not yet available: [List or "None"]

Laboratory Data

• CBC with differential: [Date(s)/Result(s)] — [ALC trend and nadirs]
• CMP: [Date(s)/Result(s)]
• Quantitative immunoglobulins: [IgG/IgA/IgM ± IgE with dates and values] (Include repeat values when available)
• Vaccine titers/serologies (baseline): [Antigen, date, result/units]
• Post-challenge titers: [Antigen, date, result/units]
• Lymphocyte subsets: [CD3/CD4/CD8/CD19/CD16+56 with dates/absolute counts]
• B-cell phenotyping: [Naïve/memory/switched memory/plasmablasts if available]
• Complement screening: [CH50/AH50/C3/C4 results with dates]
• HIV testing: [Test type/date/result]
• Other relevant tests: [Neutrophil oxidative burst; specific antibody panels; IgG subclasses; SPEP/free light chains] (Only include if completed)

Microbiology and Pathology

• [Cultures with organism and susceptibilities; source and date]
• [Viral PCRs; fungal markers (galactomannan, beta-D-glucan); AFB results]
• [Tissue pathology pertinent to granulomas/lymphoproliferation/IBD-like disease]

Imaging and Procedures

• Chest CT: [Date] — [Findings, including bronchiectasis pattern/severity]
• Sinus CT: [Date] — [Findings]
• PFTs: [Date] — [Findings]
• Bronchoscopy/Endoscopy: [Date] — [Findings]
• Other procedures: [ENT surgeries, chest tube/empyema, central lines, transplant] — [Dates/Findings]

Prior Specialist Input

• Immunology/ID/Pulmonology/ENT assessments: [Summary of conclusions and recommendations]
• Genetic testing: [Panel/exome/genome; date; result including VUS] — [Reanalysis plan if applicable]

Relevant Past History

Medical History

• [Chronic lung disease/asthma/atopy; autoimmune disease; IBD-like disease; chronic sinusitis]
• [Prior severe infections/hospitalizations/ICU/sepsis with dates]
• [Newborn screening results (SCID screen) if known]
• [Prematurity; growth/development history] (Include for pediatric patients)

Surgical/Procedural History

• [ENT surgeries (tympanostomy, sinus surgery)]
• [Bronchoscopy; chest tube for empyema]
• [Splenectomy; central venous lines; transplant]

Medications

• Current: [Medication list with dose/frequency]
• Recent immunomodulators: [Systemic steroids; biologics; chemotherapy; transplant drugs] — [Last dose dates]
• Prophylaxis: [Antibiotics/antifungals/antivirals; indication]
• Recent vaccinations: [Type/date]
• Prior IGRT: [IVIG/SCIG product, dose, frequency, start–stop dates; last dose date]

Allergies and Reactions

• Drug allergies: [Agent — reaction type/severity]
• Blood product/IG reactions: [Details or "None"]
• Known/possible IgA deficiency: [Present / Absent / Unknown] (Note implications for IGRT product selection if present)

Family History (Immunology-Focused)

• Three-generation summary: [Recurrent/unusual infections; early infant deaths; known immunodeficiency diagnoses; autoimmunity; lymphomas]
• Consanguinity: [Yes / No / Unknown] | Ancestry/ethnicity: [Details if relevant for recessive risk]
• Known familial pathogenic variants: [Gene/variant] (Include patient's status if tested)
• Pattern suggestive of X-linked disease: [Present / Absent / Unknown]

Social and Exposure History

• [Household crowding/daycare; occupational exposures]
• [Travel history; TB risks/exposures]
• [Smoking/vaping exposure]
• [Barriers to care affecting testing or IGRT access]

Review of Systems (Targeted)

(Document only items informing the immunodeficiency differential; include pertinent positives and targeted negatives)

• Constitutional: [Fevers/weight loss/fatigue]
• ENT: [Otitis/sinus symptoms/oral ulcers/thrush]
• Pulmonary: [Cough/wheeze/dyspnea/hemoptysis]
• GI: [Diarrhea/abdominal pain/malabsorption]
• Skin: [Eczema/abscesses/warts/molluscum]
• Neurologic: [Meningitis/encephalitis/seizures]
• Autoimmune symptoms: [Cytopenias/arthritis/thyroid symptoms]

Physical Examination

• Vitals: [BP/HR/RR/Temp/SpO2] (Include growth parameters and percentiles for pediatrics)
• General: [Appearance; distress; syndromic/dysmorphic features]
• HEENT: [Chronic otitis/sinus findings; oral thrush; dental issues]
• Lymphatic: [Lymph node exam; spleen/liver size]
• Skin: [Eczema; warts; abscess scars; granulomas; telangiectasias]
• Lungs: [Auscultation; wheeze/crackles; clubbing]
• Abdomen: [Hepatosplenomegaly; tenderness]
• Neurologic: [Focal deficits/meningeal signs]

(State "not examined" rather than implying normal for systems not assessed)

Assessment

[One-paragraph synthesis: phenotype, key objective abnormalities, why immunodeficiency is suspected, and urgency tier (routine / urgent / emergent)]

Differential Diagnosis (by immune compartment)

• Primary (inborn error) immunodeficiency:
  • Predominantly antibody deficiency: [Leading considerations with brief rationale]
  • Combined immunodeficiency: [Considerations/rationale]
  • Phagocyte defect: [Considerations/rationale]
  • Complement defect: [Considerations/rationale]
  • Immune dysregulation/autoinflammation: [Considerations/rationale]
• Secondary/acquired immunodeficiency: [Considerations linked to medication/protein loss/malignancy/infection/asplenia]
• Non-immune mimics/anatomic contributors: [Structural lung disease/aspiration/CF/PCD/allergic rhinitis/uncontrolled asthma/anatomic abnormalities]

(Include only compartments relevant to the phenotype; omit categories clearly not applicable)

Plan

Diagnostic Plan

• Tier 1 (broad screening): [Ordered tests] — [Clinical question] — [Timing]
• Tier 2 (phenotype-directed): [Tests triggered by Tier 1 abnormalities or high suspicion] — [Clinical question] — [Timing]
• Tier 3 (functional/genetic/specialized): [Functional assays; genetic testing; advanced immunophenotyping] — [Rationale] — [Timing]
• Constraints affecting interpretation: [Recent IVIG/SCIG; recent anti-CD20 therapy; acute infection; steroid exposure — with dates]

Vaccine Challenge Plan

(Include when vaccine-response testing is indicated)

• Baseline titers drawn: [Date/antigens]
• Vaccine administered: [Type/product; date]
• Planned recheck window: [Time interval post-vaccination]
• Interpretation criteria: [Protective thresholds/response criteria to be applied]
• Live vaccines: [Deferred / Proceed] pending immune characterization

Infection Management and Prevention

• Acute infection approach: [Targeted culture/PCR plan for future episodes]
• Prophylaxis: [Antibiotic/antifungal/antiviral; indication; dose; duration]
• Airway clearance: [Regimen if bronchiectasis present]
• Referrals: [Pulmonology/ENT/ID for bronchiectasis/chronic sinus disease/other]

Immunization Plan

• [Interim guidance on live vaccines]
• [Household contact vaccination recommendations]
• [Impact of planned/ongoing IGRT on vaccine effectiveness and serology interpretation]

Genetic Testing Plan

(Include when genetic testing is ordered or strongly considered)

• Rationale: [Phenotypic features supporting testing]
• Test selected: [Panel/exome/genome] — [Proband vs trio] — [Laboratory]
• Consent discussion: [Incidental findings; familial implications] — Consent obtained: [Yes / No]
• Reanalysis plan: [Interval and triggers if negative/VUS]

Immunoglobulin Replacement Therapy (IGRT) Consideration

(Include when patient receives IGRT, IGRT is likely, or objective data suggests severe antibody production defect)

• Indication (mechanism-based): [Statement tying diagnosis to antibody production/functional defect]
• Clinical severity justification: [Infection burden; hospitalizations; end-organ damage; antibiotic failure]
• Objective immune evidence: [Low quantitative immunoglobulins on ≥2 occasions (dates/values); poor vaccine responses (details); exclusion of secondary causes]
• Therapy plan: [IVIG/SCIG product; route; starting dose (g/kg); frequency; IgG trough target; premedication]
• Site-of-care plan: [First infusions under supervision in equipped facility; home infusion criteria if applicable]
• Safety review: [Thromboembolism risk; renal disease; infusion reaction history; IgA deficiency considerations]
• Monitoring: [Clinical response; infection rates; IgG levels; adverse events]
• Shared decision-making: [Discussion summary; patient preferences on route/site; education provided]
• Coverage documentation: [Diagnosis codes; objective criteria met; medical necessity statement; home infusion appropriateness if planned]
• IGRT status: [Initiate / Continue / Adjust / Defer] — [If deferred, specify criteria: pending vaccine challenge, excluding secondary causes, etc.]

Follow-Up

• Follow-up interval: [Timeframe] — Return sooner if [specific triggers]
• Result communication: [Portal/call/visit; who contacts whom and when]
• Return precautions: [Signs of severe infection or decompensation]
• Reclassification plan: [How differential/management will be updated upon results]

Missing information handling: Use "Unknown" when information was sought but not available; use "Not assessed" when the item was not addressed during the visit; use "Not available for review" for external records that exist but were inaccessible. Do not leave decisive areas blank (vaccine response, IGRT history, severe infection history, immunosuppressive medications).