Identifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes

doi:10.1016/j.jaci.2004.01.761

Journal of Allergy and Clinical Immunology

Volume 113, Issue 4, April 2004, Pages 747-755

https://doi.org/10.1016/j.jaci.2004.01.761 Get rights and content

Abstract

Background

Primary immunodeficiency diseases occur in all populations, but these diagnoses are rarely made in minority subjects in the United States.

Objective

We sought to develop and validate a method to identify patients without diagnoses but with immunodeficiency in an urban hospital with a substantial minority patient population.

Methods

We developed a scoring algorithm on the basis of International Classification of Disease, Ninth Revision (ICD-9) codes to identify all hospitalized patients age 60 years or less who had been given a diagnosis of 2 or more of 174 ICD-9–coded complications associated with immunodeficiency. Codes were weighted for severity and expressed as a sum for all admissions between October 1, 1995, and December 31, 2002. Patients with, for example, cancer or HIV or those after transplantation or major surgery were excluded. Demographic features of subjects with aggregated ICD-9 codes suggestive of immunodeficiency were compared with those of other inpatients; 59 computer-selected subjects were then tested for immune defects.

Results

The computer-identified group contained 533 patients (0.4% of all inpatients), who had been hospitalized 2683 times. The median age was 6.6 years. Sixty-five percent were African American or Hispanic, and 61% were insured by Medicaid, which is significantly more than other inpatients younger than 60 years of age (median age, 32.6 years; 37% minority, 27% insured by Medicaid; P<.0001). Primary immunodeficiency was found in 17 (29%) of the 59 subjects tested. Thirteen other patients had secondary immune defects, and 86% of immunodeficient subjects were Hispanic or African American.

Conclusions

An ICD-9–based scoring algorithm identifies patients demographically different from other hospitalized subjects who have multiple illnesses suggestive of immunodeficiency. This group contains undiagnosed minority patients with immunodeficiency.

Section snippets

Hospital, patients, and demographics

In addition to being a tertiary referral center, Mount Sinai Medical Center serves the low-income working class communities of East, South, and Central Harlem. Twenty-one percent of inpatients are self-identified as Hispanic, and 16% are of African American descent. The major insurance carriers for the hospital are Medicaid (21%), followed by Medicare (17%) and health maintenance organizations (18%). This study was done in HIPAA compliance after obtaining an institutional review board waiver of

Sorting by computer diagnoses

In the initial study a total of 321,754 inpatient visits (made by 187,093 subjects) between January 1, 1995, and October 1, 2001, were surveyed to screen for individuals with IDR score totals of 6 or more. After excluding all subjects older than 60 years of age and those with the chosen exclusion ICD-9 codes, there were 533 inpatients (0.4% of the total hospitalized group or 0.2% of the group <60 years of age), who were hospitalized a total of 2683 times, who had an IDR score of 6 or greater

Discussion

The Mount Sinai Medical Center serves as a referral center for patients with primary immunodeficiency disease and treats a large outpatient population with these disorders. These patients have (historically) been primarily of white, non-Hispanic background (92%), in contrast to the general hospitalized patient population, which is 21% Hispanic and 16% African American.

To investigate whether patients with undiagnosed immune deficiency could be identified in our diverse inpatient hospital

Acknowledgements

We thank Drs Barbara Brenner, Mary Foley, Francisco Bonilla, Hans Ochs, Samyia Razvi, and Ileanna Seranno for valuable discussions, help in data management, and presentation. We also thank the Jeffrey Modell Foundation for continued support and encouragement in these investigations.

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^☆: Supported by grants AI-467320 and AI-48693 from the National Institutes of Health and grant 001679 from the US Food and Drug Administration.

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Basic and clinical immunologyIdentifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes☆

Abstract

Background

Objective

Methods

Results

Conclusions

Section snippets

Hospital, patients, and demographics

Sorting by computer diagnoses

Discussion

Acknowledgements

Clin Immunol

J Pediatr

J Pediatr

Clin Immunol Immunopathol

J Allergy Clin Immunol

J Immunol Methods

J Allergy Clin Immunol

The primary immunodeficiencies

N Engl J Med

Primary immunodeficiency diseases: report of an IUIS Scientific Group

Clin Exp Immunol

Immunodeficiency disorders

Primary immunodeficiency disorders in Sweden: cases among children 1974-1979

J Clin Immunol

Primary immunodeficiency syndromes in Italy: a report of the National Register in Children and Adults

J Clin Immunol

Primary immunodeficiencies in Switzerland: first report of the National Registry in Adults and Children

J Clin Immunol

Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults

J Clin Immunol

Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes

Mol Med

Chronic granulomatous disease. Report on a national registry of 368 patients

Medicine

Hyper-IgE syndrome with recurrent infections—an autosomal dominant multisystem disorder

N Engl J Med

X-linked agammaglobulinemia. A clinical and molecular analysis

Medicine

Complement and complement deficiencies

Semin Liver Dis

The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome)

Semin Hematol

Basic and clinical immunology
Identifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes☆