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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Speciality : Adult Pediatric