Phagocytic Cell Defects

Chédiak-Higashi syndrome

Autosomal recessive

LYST (CHS1)

Oculocutaneous albinism, recurrent infections, fever, jaundice, hepatosplenomegaly, lymphadenopathy, neuropathy, pancytopenia, bleeding diathesis

Chronic granulomatous disease

X-linked or autosomal recessive

gp91phox (CYBB; X-linked)

p22phox, p47phox, p67phox (autosomal recessive)

Granulomatous lesions in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction); lymphadenitis; hepatosplenomegaly; skin, lymph node, lung, liver, and perianal abscesses; osteomyelitis; pneumonia; staphylococcal, gram-negative, and aspergillus infections

Leukocyte adhesion deficiency

Autosomal recessive

ITGB2 gene, encoding CD18 of beta-2 integrins (type 1)

GDP-fucose transporter gene (type 2)

Soft-tissue infections, periodontitis, poor wound healing, delayed umbilical cord detachment, leukocytosis, no formation of pus

Developmental delay (type 2)

Mendelian susceptibility to mycobacterial disease (MSMD)

Autosomal dominant or recessive

Defects in genes encoding the IFN-gamma receptor, IL-12, or the IL-12 receptor

Mycobacterial infections

Varying clinical severity based on genetic defect

Cyclic neutropenia

Autosomal dominant

ELA2

Pyogenic bacterial infections during recurrent episodes of neutropenia (eg, every 14 to 35 days)