PIDLA
Primary ImmunoDeficiency Look-up App
About PIDLA
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HPO
Inheritance
AD
AR
XL
T cells
Overall numbers
Overall low
Overall normal
Overall high
Subpopulations
CD4 low
CD4 high
CD8 low
CD8 high
Double negative (DN) low
Double negative (DN) high
Gamma delta low
Gamma delta high
Phenotype
Naive low
Naive high
Activated
Th17 low
iNKT low
Follicular helper (Tfh) low
Regulatory (Treg) low
Regulatory (Treg) high
Other
TCR expression/function impaired
TCR diversity impaired
Proliferation impaired
B cells
Overall numbers
Overall low
Overall normal
Overall high
Subpopulations
Naive low
Naive high
Transitional low
Transitional high
Memory low
Memory high
Immunoglobulins
Overall
Overall low
Overall normal
Overall high
IgG
IgG low
IgG high
IgA
IgA low
IgA high
IgM
IgM low
IgM high
IgE
IgE high
Specific antibodies
Specific antibody response impaired
Neutrophils
Overall numbers
Overall low
Overall normal
Overall high
Function
Function altered
Other affected cell types
Hematopoietic stem cells
Dendritic cells
Epithelia
Eosinophils
Fibroblasts
Natural killer cells
Monocytes and macrophages
Mast cells
Associated features
atopy
atopy
eczema
eosinophilia
eosinophilic enteritis
food allergies
urticaria
autoimmunity
AIHA
anti-phospholipid syndrome
autoantibodies
autoimmune cytopenia
autoimmunity
diabetes
SLE
blood
AIHA
anemia
anemia (aplastic)
anemia (hemolytic)
anemia (megaloblastic)
anti-phospholipid syndrome
atypical hemolytic-uremic syndrome
autoimmune cytopenia
bilobed neutrophils
bleeding
BMF
cytopenia
erythroid hypoplasia
giant lysosomes
histiocytosis
HLH
leukocytosis
leukocytosis after cold exposure
MDS
monocytopenia
myeloid maturation arrest
neutropenia
platelet abnormalities
reticular dysgenesis
thrombocytopenia
thrombosis
blood vessels
aneurysms
angiectasia
atherosclerosis
cardiac anomalies
cardiomyopathy
ischemic stroke
vascular calcifications
vasculitis
cancer
cancer
cancer (brain)
cancer (GI)
cancer (skin)
cancer (urogenital)
increased chromosomal breakage
Kaposi sarcoma
leukemia
lymphoma
palmoplantar carcinoma
radiation sensitivity
ectodermal
anhidrosis
cancer (skin)
dermatitis
dystrophic nails
ectodermal dysplasia
eczema
hair anomalies
hairy elbows
hidradenitis
hyperkeratosis (palmoplantar)
hyperpigmentation
hypertrichosis
hypopigmentation
ichthyosis
inflammatory skin rash
leukoplakia
nail dystrophy
neonatal teeth
skin (café-au-lait spots)
teeth anomalies
teeth (conical teeth)
teeth (retention of primary teeth)
urticaria
endocrinological
adrenal failure
diabetes
endocrinopathy
hypoparathyroidism
hypothyroidism
thyroiditis
eye
coloboma
eye (cataracts)
eye (corneal scarring)
eye (inflammation)
eye (retinopathy)
eye (uveitis)
eye (visual impairment)
retinal dystrophy
gastrointestinal
cancer (GI)
colitis
diarrhea
enteropathy
eosinophilic enteritis
esophageal dysfunction
failure to thrive
gastrointestinal hemorrhage
GI anomalies
GI infections
IBD
malabsorption
neuronal dysplasia of the intestine
pancreatic insufficiency
protein losing enteropathy
severe enterocolitis
hair
alopecia
hepatic
biliary tract disease
hepatic fibrosis
hepatic veno-occlusive disease
hepatitis
hepatomegaly
hepatosplenomegaly
liver disease
infections
abscesses
bacterial infections
CMC
CMV
COVID-19 susceptibility
Cryptosporidium
disseminated BCG infections
disseminated vaccine-strain measles
EBV
encapsulated bacterial infections
folliculitis
fungal infections
GI infections
HHV6
HHV8
histoplasmosis
HPV
HSV
infections
influenza
meningitis
molluscum
mycobacterial infections
Neisseria
opportunistic infections
otitis media
Pneumocystis jirovecii
respiratory infections
Salmonella
skin infections
stomatitis
trypanosomiasis
viral infections
VZV
Whipple disease
laboratory
abnormal telomeres
acidosis
autoantibodies
elevated ferritin
elevated IL-10
elevated sCD25
elevated serum FasL
elevated sweat chloride
elevated vitamin B12
high IgD levels
high IL-6
hyperlipidemia
hypocalcemia
hypoglycemia
chromosomal anomalies
increased AFP
low copper
lysinuric protein intolerance
type I IFN signature
lung
alveolar proteinosis
bronchiectasis
COPD
granulomas
pneumatoceles
pulmonary fibrosis
lymphatic
absent spleen
adenopathy
leukemia
lymphangiectasia
lymphedema
lymphoproliferation
splenomegaly
musculoskeletal
arthritis
arthropathy
bone anomalies
bone degeneration in jaws
bone fractures
brachydactyly
camptodactyly
cleft palate
contractures
dwarfism
dysmorphic facies
ear anomalies
granulomatous synovitis
high arched palate
hyperextensible joints
hypertelorism
hypotonia
choanal atresia
chondrodysplasia
chronic recurrent multifocal osteomyelitis
kyphosis
limb anomalies
macroglossia
metaphyseal dysostosis
microcephaly
myopathy
myositis
non-progressive myopathy
osteopetrosis
osteoporosis
periostitis
platyspondyly
scoliosis
short stature
skeletal anomalies
spondyloepiphyseal dysplasia
sterile multifocal osteomyelitis
velopharyngeal insufficiency
NA
ILD
NA
neurological
absent corpus callosum
ataxia
bilateral striatal necrosis
cancer (brain)
cerebellar hypoplasia
cerebrospinal leukodystrophy
CNS anomalies
cranial neuropathies
deafness
developmental delay
encephalitis
encephalopathy
hypomyelination
chronic meningitis
intellectual disability
intracranial calcifications
meningitis
microcephaly
neural tube defect
neurodevelopmental delay
neuronal dysplasia of the intestine
non-progressive myopathy
polyneuropathy
seizures
spastic paresis
velopharyngeal insufficiency
skin
abscesses
acne
anhidrosis
blisters
cancer (skin)
dermatitis
eczema
granulomas
hidradenitis
hyperkeratosis (palmoplantar)
hyperpigmentation
hypopigmentation
ichthyosis
inflammatory skin rash
leukoplakia
livido
photosensitivity
poikiloderma
psoriasis
pustular psoriasis
pustulosis
pyoderma gangrenosum
rash
reticulate skin pigmentation
scaling
skin (albinism)
skin (anomalies)
skin atrophy
skin (café-au-lait spots)
skin (dyskeratosis)
skin fragility
skin infections
skin (inflammation)
skin lesions
ulcers (mucosal)
ulcers (skin)
urticaria
warts
systemic
amyloidosis
amylopectinosis
autoantibodies
autoimmunity
autoinflammation
classical AGS
delayed cord separation
fever
granulomas
growth failure
growth retardation
hereditary angioedema
chills
inflammation
IUGR
lipodystrophy
MAS
MIS-C
obesity
panniculitis
poor wound healing
preeclampsia
premature aging
recurrent fever
serositis
short stature
SLE
TORCH-like syndrome
teeth
dental enamel hypoplasia
neonatal teeth
periodontitis
teeth anomalies
teeth (conical teeth)
teeth (retention of primary teeth)
thymus
thymus (hypoplasia)
urogenital
cancer (urogenital)
dense deposit disease
genital anomalies
glomerulonephritis
gonadal anomalies
gonadal dysfunction
impaired spermatogenesis
intrauterine polyhydramnion
nephritis
nephromegaly
nephropathy
preeclampsia
urogenital anomalies
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