Can be primary (congenital) or secondary. It presents in childhood and adulthood, and can affect both sexes.
Primary disease (most common cause being common variable immunodeficiency [CVID]) may have a delay of several years between clinical presentation and reaching a diagnosis.
Secondary disease causes include malabsorption, nephrotic syndrome, haematological malignancy, and chemotherapy.
Patients are predisposed to recurrent upper and lower respiratory tract infections.
Treatment is tailored to specific causes and individual patient needs, and includes intravenous or subcutaneous immunoglobulin replacement.
Severe combined immunodeficiency (SCID) is a medical emergency and suspected cases require immediate specialist centre referral for diagnosis and treatment.
Hypogammaglobulinaemia occurs when serum immunoglobulin levels are reduced. This occurs due to a variety of underlying primary/congenital intrinsic immune system defects (e.g., common variable immunodeficiency) and secondary immunodeficient states (e.g., medication-related, haematological malignancy, protein-losing diseases). The most commonly recognised clinical feature is recurrent infection.
History and exam
- absence from school/work
- failure to thrive
- tympanic membrane perforation
- illness after live vaccines
- weight loss, night sweats, fevers
- alopecia, goitre, vitiligo
- small/absent tonsils
- lymphadenopathy and hepatosplenomegaly
- hx of coeliac disease or transfusion reactions
- muscle fatigability, ptosis, diplopia (if thymoma present)
- dysmorphic features
- neurological involvement
- flow cytometry: lymphocyte subsets
- specific antimicrobial antibodies
- test immunisation response
- IgG subclasses
- flow cytometry: protein expression
- genetic testing
- enzyme assays
- abdominal ultrasound
- CT chest/sinuses
- CT abdomen
- lymph node biopsy
- small- and large-bowel biopsy
- PCR for viral infection
- hepatitis B surface antigen (HBsAg), hepatitis B and C PCR
Frimley Park & St Thomas' Hospital
MYK serves on the advisory board for Allergy Therapeutics, which manufactures allergy immunotherapy products and allergy skin testing products.
Dr Mohammed Yousuf Karim would like to gratefully acknowledge Dr Patrick Yong and Dr Zoe Adhya, previous contributors to this monograph. PY and ZA declare that they have no competing interests.
Associate Professor of Pediatrics
University of New South Wales
Department of Immunology and Infectious Diseases
Sydney Children's Hospital
JBZ declares that he has no competing interests.
Professor of Medicine and Pediatrics
Mount Sinai School of Medicine
CCR is an author of several references cited in the monograph.
Honorary Clinical Scientist
UCL Centre for Primary Immunodeficiency
University College London Medical School
Department of Immunology
Royal Free Hospital
DW declares that he has no competing interests.
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