RAPID: Resource of Primary Immunodeficiency Diseases

ADENOSINE DEAMINASE DEFICIENCY	ACTIVATION-INDUCED CYTIDINE DEAMINASE DEFICIENCY	AUTOIMMUNE POLYENDOCRINOPATHY WITH CANDIDIASIS AND ECTODERMAL DYSTROPHY
ATAXIA-TELENGIECTASIA	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	ARTEMIS DEFICIENCY
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1B	ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1
ATAXIA-TELANGIECTASIA-LIKE DISORDER	AUTOSOMAL DOMINANT ANHIDROTIC ECTODERMAL DYSPLASIA AND T-CELL IMMUNODEFICIENCY	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
AUTOSOMAL DOMINANT CHRONIC MUCOCUTANEOUS CANDIDIASIS	AUTOSOMAL RECESSIVE OSTEOPETROSIS 1	ATYPICAL HEMOLYTIC UREMIC SYNDROME 6
AGAMMAGLOBULINEMIA	AUTOSOMAL RECESSIVE OSTEOPETROSIS WITH IMMUODEFICIENCY	AICARDI-GOUTIERES SYNDROME 5
AICARDI-GOUTIERES SYNDROME 1	AICARDI-GOUTIERES SYNDROME 4	AICARDI-GOUTIERES SYNDROME 2
AICARDI-GOUTIERES SYNDROME 3	AUTOSOMAL DOMINANT DYSKERATOSIS CONGENITA	AP4E1 DEFICIENCY
BETA-ACTIN DEFICIENCY	BLOOM SYNDROME	BLNK DEFICIENCY
BLAU SYNDROME	BARTH SYNDROME	BAFF RECEPTOR DEFICIENCY
C1QA DEFICIENCY	C1QB DEFICIENCY	C1QG DEFICIENCY
C1R DEFICIENCY	C1S DEFICIENCY	C2 DEFICIENCY
C3 DEFICIENCY	C4A DEFICIENCY	C4B DEFICIENCY
C4 BINDING PROTEIN ALPHA DEFICIENCY	C4 BINDING PROTEIN BETA DEFICIENCY	C5 DEFICIENCY
C6 DEFICIENCY	C7 DEFICIENCY	C8A DEFICIENCY
C8B DEFICIENCY	C8G DEFICIENCY	C9 DEFICIENCY
CARD9 DEFICIENCY	CASPASE 8 DEFICIENCY	CD19 DEFICIENCY
CD3ZETA DEFICIENCY	CD3 DELTA DEFICIENCY	CD3 EPSILON DEFICIENCY
CD3 GAMMA DEFICIENCY	CD40 DEFICIENCY	CD40 LIGAND DEFICIENCY
CD46 DEFICIENCY	CD59 DEFICIENCY	CD81 DEFICIENCY
CD8ALPHA DEFICIENCY	CFHR1 DEFICIENCY	CFHR3 DEFICIENCY
CFHR5 NEPHROPATHY	CHARGE SYNDROME WITH IMMUNODEFICIENCY	CIITA, MHC II TRANSACTIVATING PROTEIN DEFICIENCY
CORONIN-1A DEFICIENCY	CYCLIC NEUTROPENIA	CD64 DEFICIENCY
CHEDIAK-HIGASHI SYNDROME	CD20 DEFICIENCY	CERNUNNOS DEFICIENCY
CINCA SYNDROME	CROHN'S DISEASE	CD45 DEFICIENCY
CARTILAGE HAIR HYPOPLASIA	C1 INHIBITOR DEFICIENCY	COMEL-NETHERTON SYNDROME
COMPLETE STAT1 DEFICIENCY	COHEN SYNDROME	CD21 DEFICIENCY
CD27 DEFICIENCY	CD4+ T-CELL LYMPHOPENIA WITH UNC119 DEFICIENCY	CARD11 DEFICIENCY
DECAY-ACCELERATING FACTOR (CD55) DEFICIENCY	DIGEORGE ANOMALY	DYSKERATOSIS CONGENITA-1
DOCK8 DEFICIENCY	DNA LIGASE I DEFICIENCY	DNA LIGASE IV DEFICIENCY
DIGEORGE ANOMALY	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
DYSKERATOSIS CONGENITA	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3	DYSKERATOSIS CONGENITA
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	EPIDERMODYSPLASIA VERRUCIFORMIS TYPE 1	EPIDERMODYSPLASIA VERRUCIFORMIS TYPE 2
FACTOR B DEFICIENCY	FACTOR D DEFICIENCY	FACTOR H DEFICIENCY ASSOCIATED WITH ATYPICAL HEMOLYTIC UREMIC SYNDROME
FACTOR H DEFICIENCY	FACTOR I DEFICIENCY	FACTOR I DEFICIENCY ASSOCIATED WITH ATYPICAL HEMOLYTIC UREMIC SYNDROME
FAMILIAL CHRONIC MUCOCUTANEOUS CANDIDIASIS WITH DECTIN-1 DEFICIENCY	FICOLIN-3 DEFICIENCY	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, TYPE 2	FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 4	FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 3	FADD DEFICIENCY	GLYCOGEN STORAGE DISEASE IA
GLUCOSE 6-PHOSPHATE DEHYDROGENASE DEFICIENCY	GFI1 DEFICIENCY	GRISCELLI SYNDROME, TYPE 3
GRISCELLI SYNDROME, TYPE 1	GRISCELLI SYNDROME, TYPE 2	GLYCOGEN STORAGE DISEASE 1B
GLYCOGEN STORAGE DISEASE 1C	GATA2 DEFICIENCY	GOOD'S SYNDROME
HERMANSKY-PUDLAK SYNDROME 2	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	HOYERAAL-HREIDARSSON SYNDROME
HEREDITARY ANGIOEDEMA, TYPE III	HYPER-IGD SYNDROME	HEREDITARY FOLATE MALABSORPTION WITH IMMUNODEFICIENCY
HEPATIC VENO-OCCLUSIVE DISEASE WITH IMMUNODEFICIENCY	HERMANSKY-PUDLAK SYNDROME 9	HOIL-1 DEFICIENCY
IG-ALPHA DEFICIENCY	IG-BETA DEFICIENCY	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
ICOS DEFICIENCY	IFNγ-RECEPTOR1 DEFICIENCY	IFNγ-RECEPTOR2 DEFICIENCY
IGA DEFICIENCY	IGG1 DEFICIENCY	IGG2 DEFICIENCY
IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA	INFLAMMATORY BOWEL DISEASE WITH IL10R1 DEFICIENCY	INFLAMMATORY BOWEL DISEASE WITH IL10R2 DEFICIENCY
IL-12 P40 DEFICIENCY	INTERLEUKIN-12 RECEPTOR BETA DEFICIENCY	INTERLEUKIN-1 RECEPTOR ANTAGONIST DEFICIENCY
IL-2 RECEPTOR α-CHAIN DEFICIENCY	INTERLEUKIN-7 RECEPTOR-ALPHA DEFICIENCY	IRAK4 DEFICIENCY
ITK DEFICIENCY	IMMUNOGLOBULIN A DEFICIENCY 2	ICF SYNDROME 2
IKAROS DEFICIENCY	IRF8 DEFICIENCY	IL-17F DEFICIENCY
IL-17RA DEFICIENCY	ITCH DEFICIENCY	IL-36 RECEPTOR ANTAGONIST DEFICIENCY
IL21R DEFICIENCY	ISOLATED CONGENITAL ASPLENIA	ISOLATED CONGENITAL ASPLENIA
JAK3 DEFICIENCY	KAPPA LIGHT-CHAIN DEFICIENCY	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
LOCALIZED JUVENILE PERIODONTITIS	LEUKOCYTE ADHESION DEFICIENCY I	LAD3 DEFICIENCY
LEUKOCYTE ADHESION DEFICIENCY, TYPE II	LRBA DEFICIENCY	MAJEED SYNDROME
MASP2 DEFICIENCY	MBP DEFICIENCY	MYELOPEROXIDASE DEFICIENCY
MEVALONIC ACIDURIA	MYD88 DEFICIENCY	MUCKLE-WELLS SYNDROME
MAGT1 DEFICIENCY	MSH6 DEFICIENCY	MST1 DEFICIENCY
NEUTROPHIL-SPECIFIC GRANULE DEFICIENCY	NATURAL KILLER CELL DEFICIENCY	NON-BRUTON TYPE AUTOSOMAL DOMINANT AGAMMAGLOBULINEMIA
NIJMEGEN BREAKAGE SYNDROME	OSTEOPETROSIS, LYMPHEDEMA AND ANHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY	OMENN SYNDROME
OMENN SYNDROME	PROPERDIN DEFICIENCY	PULMONARY ALVEOLAR PROTEINOSIS
PAPILLON-LEFEVRE SYNDROME	P22PHOX DEFICIENCY	PARTIAL GAMMA3 ISOTYPE DEFICIENCY
P56 LCK DEFICIENCY	P47 PHOX DEFICIENCY	P67 PHOX DEFICIENCY
P40PHOX DEFICIENCY	PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
P110DELTA DEFECT WITH B-CELL IMMUNODEFICIENCY	PMS2 DEFICIENCY	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE SYNDROME
P14 DEFICIENCY	PARTIAL STAT1 DEFICIENCY	POIKILODERMA WITH NEUTROPENIA
PHOSPHOLIPASE C-GAMMA2 ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION	P85-ALPHA DEFICIENCY	PARTIAL MCM4 DEFICIENCY
PRIMARY AUTOIMMUNE NEUTROPENIA	RETICULAR DYSGENESIS	RADIOSENSITIVE T^-B^- SEVERE COMBINED IMMUNODEFICIENCY
RAC2 DEFICIENCY	RAG1 DEFICIENCY	RAG2 DEFICIENCY
RFX5, MHC CLASS II PROMOTER X BOX REGULATORY FACTOR 5 DEFICIENCY	RFXANK, ANKYRIN REPEAT CONTAINING REGULATORY FACTOR X-ASSOCIATED PROTEIN DEFICIENCY	REGULATORY FACTOR X-ASSOCIATED PROTEIN DEFICIENCY
RIDDLE SYNDROME	RNF168 DEFICIENCY	ROTHMUND-THOMSON SYNDROME WITH IMMUNODEFICIENCY
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE	RHOH DEFICIENCY	SEVERE CONGENITAL NEUTROPENIAS, INCLUDING KOSTMANN SYNDROME
SEVERE CONGENITAL NEUTROPENIA, AUTOSOMAL DOMINANT 1	SEVERE CONGENITAL NEUTROPENIA, AUTOSOMAL RECESSIVE 4	SEVERE CONGENITAL NEUTROPENIA, AUTOSOMAL RECESSIVE 3
SHWACHMAN-DIAMOND SYNDROME	SCHIMKE TYPE IMMUNO-OSSEOUS DYSPLASIA	STAT3 DEFICIENCY
STAT5B DEFICIENCY	STIM1 DEFICIENCY	TRYPANOSOMIASIS
T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	TMEM142 DEFICIENCY	TAP1 DEFICIENCY
TAP2 DEFICIENCY	TAPASIN DEFICIENCY	TRANSCOBALAMIN II DEFICIENCY
TLR3 DEFICIENCY	TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME	TNFRSF13B DEFICIENCY
TRAF3 DEFICIENCY	TRICHOHEPATOENTERIC SYNDROME	TYK2 DEFICIENCY
TCR-ALPHA DEFICIENCY	TRIF DEFICIENCY	UNC93B DEFICIENCY
UNG DEFICIENCY	WHIM SYNDROME	WISKOTT-ALDRICH SYNDROME
WIP DEFICIENCY	X-LINKED AGAMMAGLOBULINEMIA	X-LINKED AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY
X-LINKED CHRONIC GRANULOMATOUS DISEASE	X-LINKED IMMUNODEFICIENCY, POLYENDOCRINOPATHY, ENTEROPATHY	X-LINKED SEVERE COMBINED IMMUNODEFICIENCY DISEASE
X-LINKED COMBINED IMMUNODEFICIENCY	XLP1, SH2D1A DEFICIENCY	X-LINKED SEVERE CONGENITAL NEUTROPENIA
X-LINKED THROMBOCYTOPENIA	X-LINKED LYMPHOPROLIFERATIVE SYNDROME 2	X-LINKED HYPOGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY
ZAP70 DEFICIENCY

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