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Primary immunodeficiency


There are 279 diseases in this group (not entire list)

ORPHA101997 - Primary immunodeficiency
ORPHA101988 - Primary immunodeficiency due to a defect in innate immunity
ORPHA101985 - Quantitative and/or qualitative congenital phagocyte defect s
ORPHA101987 - Constitutional neutropenia

ORPHA183681 - Functional neutrophil defect
ORPHA228423 - Monocytopenia with susceptibility to infections
ORPHA264675 - Hereditary pulmonary alveolar proteinosis

ORPHA101992 - Immunodeficiency due to a complement cascade protein anomaly
ORPHA459345 - Immunodeficiency due to a complement cascade component deficiency
ORPHA459348 - Immunodeficiency due to a complement regulatory deficiency
ORPHA183710 - Genetic susceptibility to infections due to particular pathogens
ORPHA1334 -
Chronic mucocutaneous candidiasis
ORPHA1930 - Herpes simplex virus encephalitis
ORPHA748 - Mendelian susceptibility to mycobacterial diseases
ORPHA70592 - Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
ORPHA183713 - Pyogenic bacterial infections due to MyD88 deficiency
ORPHA391311 - Susceptibility to viral and mycobacterial infections
ORPHA391487 - Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
ORPHA457088 - Predisposition to invasive fungal disease due to CARD9 deficiency
ORPHA290839 - Autoinflammatory syndrome with immune deficiency
ORPHA342 - Familial Mediterranean fever
ORPHA184 - Cherubism
ORPHA343 - Hyperimmunoglobulinemia D with periodic fever
ORPHA32960 - Tumor necrosis factor receptor 1 associated periodic syndrome
ORPHA69126 - Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
ORPHA77297 -
Majeed syndrome
ORPHA90340 - Blau syndrome
ORPHA208650 - Cryopyrin-associated periodic syndrome
ORPHA210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis
ORPHA294023 - Neonatal inflammatory skin and bowel disease
ORPHA300359 - PLCG2-associated antibody deficiency and immune dysregulation
ORPHA325004 -
CANDLE syndrome
ORPHA404546 - DITRA
ORPHA331193 - Other immunodeficiency syndromes due to defects in innate immunity
ORPHA302 - Epidermodysplasia verruciformis
ORPHA51636 - WHIM syndrome
ORPHA101351 - Familial isolated congenital asplenia
ORPHA324294 - T-cell immunodeficiency with epidermodysplasia verruciformis
ORPHA431156 - Primary immunodeficiency with predisposition to severe viral infection
ORPHA431166 - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
ORPHA437552 - Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
ORPHA179006 - Primary immunodeficiency due to a defect in adaptive immunity
ORPHA101972 -
Combined T and B cell immunodeficiency
ORPHA183660 - Severe combined immunodeficiency
ORPHA480549 - Non-severe combined immunodeficiency
ORPHA101977 - Immunodeficiency predominantly affecting antibody production
ORPHA1572 - Common variable immunodeficiency
ORPHA169139 - Transient hypogammaglobulinemia of infancy
ORPHA169443 - Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
ORPHA183669 - Agammaglobulinemia
ORPHA331232 - Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
ORPHA331240 - Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
ORPHA331244 - Other immunodeficiency syndrome with predominantly antibody defects
ORPHA169361 - Immune dysregulation disease with immunodeficiency
ORPHA51 - Aicardi-Goutières syndrome
ORPHA84064 - Syndromic diarrhea
ORPHA85191 - Singleton-Merten dysplasia
ORPHA85453 - X-linked reticulate pigmentary disorder
ORPHA158038 - Primary hemophagocytic lymphohistiocytosis
ORPHA169355 - Immunodeficiency syndrome with autoimmunity
ORPHA238510 - Lymphoproliferative syndrome
ORPHA404553 - Vasculitis due to ADA2 deficiency
ORPHA425120 - STING-associated vasculopathy with onset in infancy
ORPHA529974 - Immune dysregulation with inflammatory bowel disease
ORPHA331217 - Syndrome with combined immunodeficiency
ORPHA906 - Wiskott-Aldrich syndrome
ORPHA1775 - Dyskeratosis congenita
ORPHA2300 - Multiple intestinal atresia
ORPHA1493 - Vici syndrome
ORPHA859 - Transcobalamin deficiency
ORPHA2136 - Hennekam syndrome
ORPHA2951 - Absent thumb-short stature-immunodeficiency syndrome
ORPHA3322 - Hoyeraal-Hreidarsson syndrome
ORPHA69088 - Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
ORPHA79124 - Hepatic veno-occlusive disease-immunodeficiency syndrome
ORPHA90045 - Hereditary folate malabsorption
ORPHA98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency
ORPHA169090 - Combined immunodeficiency due to CRAC channel dysfunction
ORPHA169095 - Alymphoid cystic thymic dysgenesis
ORPHA169346 - DNA repair defect other than combined T-cell and B-cell immunodeficiencies
ORPHA169349 - Immuno-osseous dysplasia
ORPHA220465 - Laron syndrome with immunodeficiency
ORPHA317473 - Pancytopenia due to IKZF1 mutations
ORPHA329173 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
ORPHA331220 - Immunodeficiency due to absence of thymus
ORPHA331223 - Hyper-IgE syndrome
ORPHA352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
ORPHA436252 - Combined immunodeficiency-enteropathy spectrum

 
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