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Forms of agammaglobulinemia by genetic defect, mode of transmission, and clinical features

Gene defect	Mode of transmission	Clinical features
BTK^[1-9]	X linked	Chronic enteroviral encephalomeningitis Giardia lamblia gastroenteritis Haemophilus conjunctivitis Mycoplasma septic arthritis Pseudomonal sepsis Recurrent otitis media Recurrent pneumonia Recurrent sinusitis
IGHM^[10,11]	Autosomal recessive	Bronchiectasis Enteroviral infections Failure to thrive Neutropenia Pseudomonal sepsis Recurrent otitis media Recurrent pneumonia Recurrent sinusitis
TOP2B^[12]	Autosomal dominant	Facial dysmorphism Limb abnormalities Recurrent infections Urogenital anomalies
SLC39A7^[13]	Autosomal recessive	Blistering skin disease Early infections Failure to thrive Thrombocytopenia
PIK3CD^[14]	Autosomal recessive	Autoimmune disease Inflammatory bowel disease Recurrent sinopulmonary infections
PIK3R1^[15-17]	Autosomal recessive	Arthritis Chronic Campylobacter enteritis Colitis EBV viremia Erythema nodosum Inflammatory bowel disease Neutropenia Thrombocytopenia
TCF3^[18,19]	Autosomal dominant/autosomal recessive	Arthritis Failure to thrive (autosomal-recessive form) Pneumococcal meningitis Recurrent otitis media Vaccine-associated polio
CD79A^[10,20,21]	Autosomal recessive	Enteroviral infections Failure to thrive Neutropenia Pseudomonal sepsis Recurrent bronchitis Recurrent diarrhea Recurrent otitis media Vaccine-associated polio
BLNK^[10,22,23]	Autosomal recessive	Arthritis Chronic sinusitis Dermatitis Enteroviral infections Neutropenia Pneumonia Protein-losing enteropathy Pseudomonal sepsis Recurrent otitis media
CD79B^[24,25]	Autosomal recessive	Bacterial conjunctivitis Chronic sinusitis Neutropenia Pneumonia Recurrent bronchitis Recurrent otitis media Salmonella enteritis
IGLL1^[10,26,27]	Autosomal recessive	Haemophilus meningitis Pneumococcal pneumonia Recurrent otitis media
FNIP1^[28,29]	Autosomal recessive	Congenital cardiac defects (cardiomyopathy) Developmental delay Recurrent sinopulmonary tract infections Variable neutropenia
SPI1^[30]	Autosomal dominant	Meningitis Sinopulmonary tract infections Systemic enteroviral infections

The forms of autosomal agammaglobulinemia are listed in the table in order from most to least common. The characteristic features are listed in alphabetical order.

BTK: Bruton tyrosine kinase; IGHM: immunoglobulin heavy constant mu; TOP2B: DNA topoisomerase II beta; SLC39A7: solute carrier family 39 member 7; PIK3CD: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta; PIK3R1: phosphoinositide-3-kinase regulatory subunit 1; EBV: Epstein-Barr virus; TCF3: transcription factor 3; CD79A: a cluster of differentiation molecule, also known as immunoglobulin-associated alpha or B cell antigen receptor complex-associated protein alpha chain; BLNK: B cell linker; CD79B: a cluster of differentiation molecule, also known as immunoglobulin-associated beta; IGLL1: immunoglobulin lambda like polypeptide 1; FNIP1: folliculin interacting protein 1; SPI1: transcription factor PU.1.

References:

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Courtesy of Vivian P Hernandez-Trujillo, MD.

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