Unusual presentation of combined immunodeficiency in a child with homozygous DOCK8 mutation

Ann Allergy Asthma Immunol. 2017 Sep;119(3):294-295. doi: 10.1016/j.anai.2017.07.011.

Authors

Barbara A Brunet¹, Ray Rodriguez²

Affiliations

¹ Divisions of Clinical Immunology and Allergy, Department of Medicine, University of Mississippi Medical Center, Jackson, Mississippi. Electronic address: bbrunet2000@yahoo.com.
² Divisions of Clinical Immunology and Allergy, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.

PMID: 28890024
DOI: 10.1016/j.anai.2017.07.011

No abstract available

Publication types

Case Reports

MeSH terms

Anti-Bacterial Agents / therapeutic use
Child, Preschool
Consanguinity
Gene Expression
Guanine Nucleotide Exchange Factors / deficiency*
Guanine Nucleotide Exchange Factors / genetics
Homozygote
Humans
Male
Mutation*
Pneumocystis carinii / isolation & purification
Pneumocystis carinii / pathogenicity
Pneumonia, Pneumocystis / diagnosis*
Pneumonia, Pneumocystis / drug therapy
Pneumonia, Pneumocystis / microbiology
Pneumonia, Pneumocystis / pathology
Severe Combined Immunodeficiency / diagnosis*
Severe Combined Immunodeficiency / drug therapy
Severe Combined Immunodeficiency / immunology
Severe Combined Immunodeficiency / pathology
Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use

Substances

Anti-Bacterial Agents
DOCK8 protein, human
Guanine Nucleotide Exchange Factors
Trimethoprim, Sulfamethoxazole Drug Combination