Primary immunodeficiency disorders

Primary immunodeficiency disorders 

Updated: 07/14/2023

© Jun Wang, MD, PhD

General features
  • Preferred term: Inborn errors of immunity 
  • Deficiency in immune system function due to intrinsic defects
  • Poor or absent function of one or more components of the immune system
  • Rare condition except IgA deficiency
  • Early diagnosis and treatment critical for outcomes
Clinical presentations
  • Recurrent infections
  • Opportunistic infections
  • Unusual infections
  • Autoimmune disorders
Key Laboratory findings
  • Lymphocytopenia
  • Neutropenia
  • Abnormal levels of immunoglobulin
Screening tests: immunodeficiency unlikely if normal results
  • CBC and differential: neutrophils, lymphocytes
  • Quantitative serum immunoglobulin levels IgA, IgE, IgG and IgM
  • Levels of specific antibodies to vaccines
  • Skin testing for delayed hypersensitivity
Additional tests
  • Lymphocytopenia: Flow cytometry/immunophenotyping, antibodies to T, B or NK cells
  • Cellular immunity dysfunction: T-cell receptor excision circle (TREC) for thymic output
  • Humoral immunity deficiency: Genes for Bruton tyrosine kinase, CD40 and CD40L, etc.
  • Combined cellular and humoral immunity deficiency: Il-2 receptor mutation (SVID)
  • Complement deficiency: Total hemolytic complement (CH50) or AH50
Adaptive immunity deficiency
  • Lymphocyte maturation defects
Severe combined immunodeficiency
X-linked agammaglobulinemia
DiGeorge syndrome
  • Lymphocyte activation and function defects
Hyper-IgM syndrome
Common variable immunodeficiency
Isolated IgA deficiency
Transient hypogammaglobulinemia of infancy
X-linked lymphoproliferative syndrome
  • Immunodeficiencies associated with systemic disorders
Wiskott-Aldrichsyndrome
Ataxia telangiectasia

Innate immunity deficiency
Leukocyte adhesion deficiency 1 and 2
Chediak-Higashi syndrome
Chronic granulomatous disease
Complement deficiency
Myeloperoxidase deficiency
Practice questions

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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas...
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Anemia

Anemia Updated: 07/13/2024 © Jun Wang, MD, PhD   General features Decrease in red cell mass Hemoglobin: Levels of hemoglobin in a specific volume of whole blood Hematocrit: Fraction of whole blood composed of red blood cells Red cell count: Quantity of red cell in a specific volume of whole blood Three major groups based on RBC sizes Microcytic Normocytic Macrocytic Three major causes Blood loss: acute or chronic Increased red cell destruction: hemolysis Reduced production: marrow failure due to genetic abnormality or nutritional deficiency Etiology Genetic abnormality Hemoglobinopathies RBC cytoskeletal abomorlities Enzyme abnormalities Fanconi anemia Nutritional deficiencies: iron, VB12, folate, general malnutrition Physical etiologies: trauma, burns, frostbite, prosthetic valves, etc Chronic diseases: chronic infections, neoplasia, autoimmune disorders, kidney or liver diseases, etc Infectious diseases: hepatitis, sepsis , malaria, e...
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Lymphoid neoplasms

Lymphocytic neoplasms Updated: 05/17/2020 © Jun Wang, MD, PhD Terminology Lymphoma : Proliferations forming discrete tissue masses Leukemia : Widespread involvement of the bone marrow and usually the peripheral blood Any "lymphoma" can present with or evolve to a leukemic picture, and any "leukemia" can occasionally present with a mass lesion Other hematology terms Important risk factors Immunodeficiency (primary or secondary) Autoimmune disorders Viruses (HIV, KSHV/HHV8, HTLV-1) H. pylori infection Radiation Chemotherapy Diagnostic approaches Complete history, especially those with possible epidemic characters, such as Burkitt lymphoma CBC, Bone marrow Morphology/immunohistochemistry Immunofluorescence flow cytometry Cytogenetic studies Molecular studies Commonly used markers All lymphomas: CD45 B-cell neoplasms: CD5, CD10, CD19, CD20, CD79a, CD23, bcl2, bcl6, cyclin D1, light chai...
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