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Glossary Immunodeficiency

condition where the immune system can't effectively fight infections

Immunodeficiency, also known as immune deficiency, refers to a state where the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. This can be due to genetic conditions (primary immunodeficiency) or external factors such as infections, malnutrition, or medical treatments like chemotherapy (secondary immunodeficiency).

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Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency

research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

64 citations , August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.

research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

1 citations , May 2023 in “Journal of neuroendocrinology”

This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.

Iron Deficiency in Immune-Mediated Inflammatory Skin Diseases: A Missing Link Between Systemic Inflammation, Immunometabolism, and Disease Burden

research Iron Deficiency in Immune-Mediated Inflammatory Skin Diseases: A Missing Link Between Systemic Inflammation, Immunometabolism, and Disease Burden

March 2026 in “Cells”

This review highlights that iron deficiency is a significant yet often overlooked contributor to the development of immune-mediated inflammatory skin diseases, suggesting that iron dysregulation may drive inflammation and metabolic imbalances in conditions like psoriasis and atopic dermatitis.

research ZINC AND HUMAN HEALTH: IMPLICATIONS OF ZINC DEFICIENCY IN IMMUNE, GASTROINTESTINAL, DERMATOLOGICAL, AND METABOLIC DISORDERS

January 2026 in “International Journal of Innovative Technologies in Social Science”

This narrative review explores existing evidence on zinc's impact in certain immune-related, gastrointestinal, dermatological, and metabolic disorders, considering clinical and observational studies to assess zinc supplementation's clinical relevance.

research Immunodeficiency Disorders

21 citations , May 2019 in “Pediatrics in review”

This review examines primary and secondary immunodeficiencies, focusing on how healthcare providers can recognize and manage these conditions in children; it reports no new clinical results.

A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

11 citations , December 2014 in “The American journal of pathology”

This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.

The Impact of HIV-Related Diseases on Pigmented Skin Types

research The impact of human immunodeficiency virus-related diseases on pigmented skin types

7 citations , October 2013 in “British Journal of Dermatology”

This article describes how HIV-related skin disorders vary in presentation among pigmented skin types and highlights challenges in their diagnosis due to atypical disease manifestations.

research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development

May 2017 in “The journal of immunology/The Journal of immunology”

This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.

research Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics

November 2018 in “The Journal of Allergy and Clinical Immunology: In Practice”

This report documents the successful use of theophylline in treating an 11-year-old girl with a rare immunodeficiency syndrome, suggesting potential in drug repurposing for primary immunodeficiency disorders and asthma.

research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection

4 citations , May 2025 in “npj Parkinson s Disease”

This study identified peripheral myeloid cells as the earliest dysregulated immune cells in PINK1 KO mice with Parkinson’s-like symptoms following intestinal infections, suggesting that PINK1 regulates gut immune functions linked to early Parkinson’s disease mechanisms.

research Psoriasis is characterized by deficient negative immune regulation compared to transient delayed-type hypersensitivity reactions

15 citations , June 2015 in “F1000Research”

This study examined immune responses to Diphencyprone and found that its induced skin reactions have higher levels of negative immune regulators compared to psoriasis, suggesting differences in immune regulation may contribute to psoriasis chronicity.

research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

January 2022

This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.

research FOXN1 deficient nude severe combined immunodeficiency

32 citations , January 2017 in “Orphanet journal of rare diseases”

This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.

Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease

research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease

26 citations , June 2018 in “The journal of immunology/The Journal of immunology”

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant

research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant

11 citations , July 2014 in “Gene”

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

research Dermatologic Manifestations of Human Immunodeficiency Virus Infection

53 citations , November 1992 in “Mayo Clinic Proceedings”

This review discusses the cutaneous manifestations associated with HIV infection, highlighting that these skin conditions often present atypically and are more severe compared to those in non-HIV-infected individuals; it reports no new clinical findings.

Secondary Syphilis in HIV-Infected Men Who Have Sex with Men: A Case Report

research Secondary Syphilis in Human Immunodeficiency Virus (HIV)-Infected Men Who Have Sex with Men (MSM): A Case Report

4 citations , March 2020 in “Berkala Ilmu Kesehatan Kulit dan Kelamin”

This case report noted that HIV-infected men who have sex with men are at a higher risk of syphilis, requiring careful staging and prolonged serologic monitoring to assess treatment success.

research Cutaneous Manifestations of the Acquired Immunodeficiency Syndrome Update 1987

76 citations , December 1987 in “International Journal of Dermatology”

This article reviews the various skin manifestations associated with AIDS and does not report new clinical findings; the authors highlight the diverse range of dermatologic conditions seen in affected individuals.

research Mucocutaneous manifestations in children with human immunodeficiency virus infection

16 citations , January 2010 in “Indian Journal of Dermatology, Venereology and Leprology”

This review discusses the role of skin manifestations as early markers and prognostic indicators of HIV infection in children but reports no new clinical results.

Spectrum of Mucocutaneous Manifestations in HIV-Infected Patients and Its Correlation with CD4 Lymphocyte Count

research Spectrum of mucocutaneous manifestations in human immunodeficiency virus-infected patients and its correlation with CD4 lymphocyte count

12 citations , July 2014 in “International Journal of STD & AIDS”

This study found that dermatological manifestations in HIV-positive individuals, such as infectious and non-infectious dermatoses, were significantly associated with CD4 T cell count.

research Non‐infective mucocutaneous presentations of human immunodeficiency virus infection

8 citations , August 1997 in “Australasian Journal of Dermatology”

This review discusses the distinctive non-infective skin presentations of HIV infection from a dermatological perspective and reports no new clinical findings.

research Skin Disease in Korean Human Immunodeficiency Virus Patient

January 2019 in “Annals of Dermatology”

This study observed that in Korean HIV patients, tinea infection, folliculitis, and seborrheic dermatitis were the most common skin diseases, with HAART medications generally reducing folliculitis incidence. Skin disease prevalence differed by immune status, affecting treatment needs.

research Overlapping Primary and Secondary Syphilis in Human Immunodeficiency Virus (HIV) Patient

1 citations , July 2020 in “Qanun Medika - Medical Journal Faculty of Medicine Muhammadiyah Surabaya”

This case report describes a patient with HIV who experienced overlapping symptoms of primary and secondary syphilis and showed clinical and serological improvement after treatment with benzathine penicillin and antiretroviral drugs.

research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

98 citations , March 2019 in “Frontiers in immunology”

This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.

Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency

research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency

3 citations , May 2019 in “BMJ case reports”

This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.

research DISORDERS OF THE NAILS AND HAIR ASSOCIATED WITH HUMAN IMMUNODEFICIENCY VIRUS INFECTION

48 citations , July 1992 in “International Journal of Dermatology”

HIV can cause various nail and hair disorders, important for early diagnosis and treatment.

research Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata

10 citations , January 2023 in “Skin Appendage Disorders”

This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.