Klinische FragestellungImmundefizienz, primäre; Differentialdiagnose

NGS +

[[Sanger]]

Immundefekte beruhen auf dem Ausfall von bestimmten Elementen des Immunsystems, einschließlich Lymphozyten, Phagozyten und Komplementsystem; sie werden in primär und sekundär unterteilt. Primäre Immundefekte umfassen T- und B-Zelldefekte, kombinierte T- und B-Zelldefekte, Komplement- und Phagozytendefekte sowie Immunglobulin-A-Mangel. Zu den T-Zell-Defizienzen gehören z.B. DiGeorge-Syndrom, chronische mukokutane Candidiasis, Hyper-Immunglobulin-M-Syndrom und Interleukin-12-Rezeptor-Mangel. Ein Beispiel für einen primären Immundefekt mit B-Zell-Defizienz ist die X-chromosomale Agammaglobulinämie. Primäre Immundefekte mit kombiniertem T- und B-Zell-Mangel schließen die schwere kombinierte Immundefektkrankheit ein, das Wiskott-Aldrich-Syndrom und die Immundefizienz mit Ataxie-Telangiektasie. Zu den primären Immundefekten mit Komplement-Defizienz werden u.a. das hereditäre Angioödem und C3-Mangel gezählt. Primäre Immundefekte mit Phagozyten-Mangel sind die chronische granulomatöse Erkrankung und das Leukozytenadhäsions-Defizienz-Syndrom. Der selektive Immunglobulin-A-Mangel wird ebenfalls als primärer Immundefekt definiert. Insgesamt werden die >300 primären Immundefekte nach allen Mendel-Mustern vererbt. Die molekulargenetischen diagnostischen Ausbeuten liegen um 35% (10-79% in individuellen kleineren Studien). Daher schließt ein negatives DNA-Testergebnis die klinische Diagnose nicht aus.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK500027/

• Alias: Agammaglobulinaemia
• Alias: Agranulocytosis
• Alias: Combined B + T cell defect
• Alias: Congenital neutopenia
• Alias: Familial hemophagocytic lymphohistiocytic disorders
• Alias: Hypogammaglobulinemia
• Alias: Immunodeficiencies affecting cellular + humoral immunity
• Alias: Inherited complement deficiency
• Alias: PIDD, primary immunodeficiency disease
• Alias: Severe combined immunodeficiency
• Allelic: Amyloidosis, familial visceral (B2M)
• Allelic: Aplastic anemia (PRF1)
• Allelic: Aplastic anemia, susceptibility to (SBDS)
• Allelic: Basal laminar drusen (CFH)
• Allelic: Blood group Cromer (CD55)
• Allelic: Blood group, Rodgers (C4A)
• Allelic: Congenital disorder of glycosylation, type Icc (MAGT1)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Defects with susceptibility to mycobacterial infection [panelapp] (ISG15)
• Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Facioscapulohumeral muscular dystrophy 4, digenic (DNMT3B)
• Allelic: Factor XII deficiency (F12)
• Allelic: Gastric cancer risk after H. pylori infection (IL1RN)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: H. pylori infection, susceptibility to (IFNGR1)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 5 (C3)
• Allelic: Hepatitis B virus infection, susceptibility to (IFNGR1)
• Allelic: Hepatitis B virus, susceptibility to (IL10RB)
• Allelic: Hyperuricemic nephropathy, familial juvenile, 4 [panelapp] (SEC61A1)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Idiopathic basal ganglia calcification [panelapp] (ISG15)
• Allelic: IgE, elevated level of (IL21R)
• Allelic: Keratosis linearis with ichthyosis congenita + sclerosing keratoderma (POMP)
• Allelic: Lhermitte-Duclos disease (PTEN)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: Lymphoma, non-Hodgkin (PRF1)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Macular degeneration, age-related, 14, reduced risk of (C2)
• Allelic: Macular degeneration, age-related, 15, susceptibility to (C9)
• Allelic: Macular degeneration, age-related, 9 (C3)
• Allelic: Meningioma (PTEN)
• Allelic: Microvascular complications of diabetes 4 (IL1RN)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Myeloid maturation arrest, osteopenia [panelapp] (JAGN1)
• Allelic: Myopathy, tubular aggregate, 1 (STIM1)
• Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
• Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTHFD1)
• Allelic: Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
• Allelic: Parkinson disease 13 (HTRA2)
• Allelic: Porokeratosis 3, multiple types (MVK)
• Allelic: Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
• Allelic: Rheumatoid arthritis, susceptibility to (CIITA)
• Allelic: SEC61A1 deficiency
• Allelic: Severe recurrent respiratory tract infections
• Allelic: Singleton-Merten syndrome 1 (IFIH1)
• Allelic: Squamous cell carcinoma, burn scar-related, somatic (FAS)
• Allelic: Susceptibility to mycobacteria, brain calcifications [panelapp] (ISG15)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Thrombocytopenia, XL (WAS)
• Allelic: Thrombocytopenia, XL, intermittent (WAS)
• Allelic: Tuberculosis infection, protection against (IFNGR1)
• Allelic: Tuberculosis, susceptibility to (IFNGR1)
• Allelic: Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
• Allelic: Van Esch-O'Driscoll s: ID, short stature, microceph., hypogonad., cong. malform. (POLA1)
• Allelic: Van Maldergem syndrome 2 (FAT4)
• 3-methylglutaconic aciduria, type VIIA, AD (CLPB)
• 3-methylglutaconic aciduria, type VIIB, AR (CLPB)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• ARHGEF1 deficiency [panelapp] (ARHGEF1)
• Activated PI3K-delta syndrome [panelapp] (PIK3CD)
• Activated PI3K-delta syndrome [panelapp] (PIK3R1)
• Adenosine deaminase deficiency, partial (ADA)
• Agammaglobulinemia 1 (IGHM)
• Agammaglobulinemia 2 (IGLL1)
• Agammaglobulinemia 3 (CD79A)
• Agammaglobulinemia 4 (BLNK)
• Agammaglobulinemia 6 (CD79B)
• Agammaglobulinemia 7, AR (PIK3R1)
• Agammaglobulinemia 8A, AD (TCF3)
• Agammaglobulinemia 8B, AR (TCF3)
• Agammaglobulinemia 9, AR (SLC39A7)
• Agammaglobulinemia with AR inheritance [panelapp] (CD79A)
• Agammaglobulinemia with AR inheritance [panelapp] (CD79B)
• Agammaglobulinemia, XL 1 (BTK)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Anauxetic dysplasia 1 (RMRP)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Angioedema, hereditary, 1 + 2 (SERPING1)
• Angioedema, hereditary, 3 (F12)
• Anhidrotic ectodermal dysplasia, infections, colitis, T cell + monocyte dysfunct [panelapp] (NFKBIA)
• Asplenia, isolated congenital (RPSA)
• Ataxia-telangiectasia (ATM)
• Atypical hemolytic-uremic syndrome, infections, preeclampsia [panelapp] (CD46)
• Atypical severe combined immunodeficiency [panelapp] (JAK3)
• Autoantibodies common, chronic skin ulcers, eczema, infections [panelapp] (PEPD)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoimmune disease, multisystem, with facial dysmorphism (ITCH)
• Autoimmune interstitial lung, joint + kidney disease (COPA)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• Autoimmune lymphoproliferative syndrome, type IB (FASLG)
• Autoimmune lymphoproliferative syndrome, type II (CASP10)
• Autoimmune lymphoproliferative syndrome, type III (PRKCD)
• Autoimmune lymphoproliferative syndrome, type V (CTLA4)
• Autoimmune polyendocrinopathy syndrome , type I, with/+out reversible metaphyseal dysplasia (AIRE)
• Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy, APECED (panelapp] (ITCH)
• Autoinflammation with episodic fever + lymphadenopathy (RIPK1)
• Autoinflammation with infantile enterocolitis (NLRC4)
• Autoinflammation, antibody deficiency + immune dysregulation syndrome (PLCG2)
• Autoinflammation, panniculitis + dermatosis syndrome (OTULIN)
• Autoinflammatory disorders [panelapp] (ADA2 ADAR CARD14 IL1RN IL36RN LPIN2)
• Autoinflammatory syndrome, familial, Behcet-like 1 (TNFAIP3)
• Autoinflammatory-pancytopenia syndrome (DNASE2)
• B-cell expansion with NFKB + T-cell anergy (CARD11)
• B-cell immunodeficiency, distal limb anomalies + urogenital malformations (TOP2B)
• Bacterial + viral infections, severe neurologic disease, CDG-IIb [panelapp] (MOGS)
• Bacterial infections, enlarged lymph nodes + germinal centers [panelapp] (AICDA)
• Bare lymphocyte syndrome, type I (TAP1)
• Bare lymphocyte syndrome, type I, due to TAP2 deficiency (TAP2)
• Bare lymphocyte syndrome, type II, complementation group A (CIITA)
• Bare lymphocyte syndrome, type II, complementation group B (RFXANK)
• Bare lymphocyte syndrome, type II, complementation group C (RFX5)
• Bare lymphocyte syndrome, type II, complementation group D (RFXAP)
• Bare lymphocyte syndrome, type II, complementation group E (RFX5)
• Barth syndrome (TAFAZZIN)
• Blau syndrome (NOD2)
• Bloom syndrome (BLM)
• Bone marrow failure syndrome 2 (ERCC6L2)
• Bone marrow failure syndrome 3 (DNAJC21)
• Bone marrow failure syndrome 4 (MYSM1)
• C1q deficiency (C1QA, C1QB, C1QC)
• C1r/C1s deficiency, combined, Lupus [panelapp] (C1R)
• C1s deficiency (C1S)
• C2 deficiency (C2)
• C3 deficiency (C3)
• C4B deficiency (C4B)
• C4a deficiency (C4A)
• C5 deficiency (C5)
• C6 deficiency (C6)
• C7 deficiency (C7)
• C8 deficiency, type I (C8A)
• C8 deficiency, type II (C8B)
• C9 deficiency (C9)
• CD40 deficiency [panelapp] (CD40)
• CD79A deficiency [panelapp] (CD79A)
• CD79B deficiency [panelapp] (CD79B)
• CD81 deficiency [panelapp] (CD81)
• CHARGE syndrome (CHD7)
• CINCA syndrome (NLRP3)
• CSR defects + hyper IgM syndromes [panelapp] (AICDA, CD40)
• Candidiasis, familial, 2, AR (CARD9)
• Candidiasis, familial, 9 (IL17RC)
• Cartilage-hair hypoplasia (RMRP)
• Caspase 8 lymphadenopathy syndrome (CASP8)
• Central adrenal insufficiency [panelapp] (NFKB2)
• Chediak-Higashi syndrome (LYST)
• Chilblain lupus 2 (SAMHD1, TREX1)
• Cholestasis, progressive familial intrahepatic, 10 (MYO5B)
• Chronic granulomatous disease 1, AR (NCF1)
• Chronic granulomatous disease 2, AR (NCF2)
• Chronic granulomatous disease 3, AR (NCF4)
• Chronic granulomatous disease 4, AR (CYBA)
• Chronic granulomatous disease, XL (CYBB)
• Chronic mucocutaneous candidiasis [panelapp] (IL17RC)
• Chronic rec. multifocal osteomyel./transfusion-dep. anemia/cutan. inflamm. dis. [panelapp] (LPIN2)
• Cogn. + neurol. defects in patients with both HAX1 isoforms, suscept MDS/leukemia [panelapp] (HAX1)
• Cohen syndrome (VPS13B)
• Combined C6/C7 deficiency (C6, C7)
• Combined immunodeficiencies + associated/syndromic features ( RNF168, SLC46A1, SPINK5)
• Combined immunodeficiencies + associated/syndromic features (ATM, BLM, CCBE1, CHD7, HELLS, RMRP)
• Combined immunodeficiency [panelapp] (ICOS, LIG4, MALT1, NFKBIA, PIK3CD, PIK3R1)
• Combined immunodeficiency, XL moderate (IL2RG)
• Combined immunodeficiency, megaloblastic anemia +/- hyperhomocysteinemia (MTHFD1)
• Common variable immunodeficiency disorders [panelapp] (CR2)
• Complement component 1 deficiency [panelapp] (C1R)
• Complement component 4, partial deficiency of (SERPING1)
• Complement deficiencies [panelapp] (CD46)
• Complement factor D deficiency (CFD)
• Complement factor H deficiency (CFH)
• Complement factor I deficiency (CFI)
• Complement hyperactivation, angiopathic thrombosis + protein-losing enteropathy (CD55)
• Congenital defects of phagocyte number or function [panelapp] ( )
• Congenital defects of phagocyte number or function [panelapp] (CSF2RA CTSC HAX1 JAGN1 LAMTOR2 RAC2)
• Congenital disorder of glycosylation, type IIb (MOGS)
• Congenital disorder of glycosylation, type IIc (SLV35C1)
• Congenital disorder of glycosylation, type IIw (SLC37A4)
• Congenital ichthyosis, bamboo hair, atopy, bacterial infects, failure to thrive [panelapp] (SPINK5)
• Congenital neutropenia [panelapp] (LAMTOR2)
• Congenital pulmonary alveolar proteinosis [panelapp] (CSF2RA)
• DNA ligase IV deficiency [panelapp] (LIG4)
• Defects in intrinsic + innate immunity [panelapp] (IL17RC, ISG15, SPPL2A, RPSA, TMC6, TMC8)
• Defects of TLR/NFkappa-B signalling [panelapp] (NFKBIA)
• Diarrhea 2, with microvillus atrophy, with/-out cholestasis (MYO5B)
• Diseases of immune dysregulation [panelapp] (FAAP24 ITCH LRBA LYST PEPD PRF1 RAB27A)
• Dursun syndrome (G6PC3)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• EBV infection-driven lymphoproliferative disease [panelapp] (FAAP24)
• Early infections, blistering dermatosis, failure to thrive, thrombocytopenia [panelapp] (SLC39A7)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG syn. NEMO)
• Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency (NFKBIA)
• Ehlers-Danlos syndrome, periodontal type, 1 (C1R)
• Ehlers-Danlos syndrome, periodontal type, 2 (C1S)
• Emberger syndrome (GATA2)
• Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 1 (UNC93B1)
• Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 5 (TRAF3)
• Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 6 (TICAM1 syn. TRIF)
• Encephalopathy, acute, infection-induced [herpes-specific], susceptibility to, 8 (TBK1)
• Enlarged lymph nodes + germinal centers [panelapp] (UNG)
• Epidermodysplasia verruciformis (TMC6)
• Epidermodysplasia verruciformis 2 (TMC8)
• Familial Mediterranean fever, AD, AR (MEFV)
• Familial cold autoinflammatory syndrome 2 (NLRP12)
• Familial cold autoinflammatory syndrome 3 (PLCG2)
• Familial cold autoinflammatory syndrome 4 (NLRC4)
• Fever syndromes + related diseases [panelapp] (ADAR)
• Folate malabsorption, hereditary (SLC46A1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
• Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
• Glycogen storage disease Ib (SLC37A4)
• Glycogen storage disease Ic (SLC37A4)
• Graft-versus-host disease, protection against (IL10)
• Granulocytopenia + deafness [panelapp] (AK2)
• Griscelli syndrome, type 2 (RAB27A)
• Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
• Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
• HIV1 infection, resistance to (TLR3)
• HIV1, susceptibility to (IL10)
• Haim-Munk syndrome (CTSC)
• Hemolytic anemia due to elevated adenosine deaminase (GATA1)
• Hemolytic anemia, CD59-mediated, with/-out immune-mediated polyneuropathy (CD59)
• Hemolytic anemia, G6PD deficient, favism (G6PC3)
• Hemolytic uremic syndrome, atypical, susceptibility to, 2 (CD46)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
• Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
• Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
• Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
• Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
• Hepatic venoocclusive disease with immunodeficiency (SP110)
• Hermansky-Pudlak syndrome 1, 4, 6 (HPS1, HPS4, HPS6)
• Hermansky-Pudlak syndrome 2 (AP3B1)
• Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
• Hyper-IgD syndrome (MVK)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Hyper-IgM syndrome due to CD40 deficiency [panelapp] (CD40)
• Hyper-IgM syndrome with lymphoid hyperplasia [panelapp] (AICDA, UNG)
• Hypersensitivity [panelapp] (CSF2RA)
• Hypogammaglobulinaemia [panelapp] (CD81, CR2, ICOS, NFKB2)
• Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory [panelapp] (PLCG2)
• IKAROS deficiency [panelapp] (IKZF1)
• IgA with IgG subclass deficiency [panelapp] (TNFRSF13B)
• Immune dysregulation [panelapp] (NFKB2)
• Immunodeficiencies affecting cell. + hum. immunity [panelapp] (AK2, CD40, ICOS, ICOSLG, IKBKB)
• Immunodeficiencies affecting cell. + hum. immunity [panelapp] (JAK3 MAPK14)
• Immunodeficiency + hepatopathy with/-out neurologic features [panelapp] (ATP6AP1)
• Immunodeficiency 10 (STIM1)
• Immunodeficiency 104, severe combined (IL7R)
• Immunodeficiency 105, severe combined (PTPRC)
• Immunodeficiency 107, susceptibility to invasive staph. aureus infection (OTULIN)
• Immunodeficiency 108 with autoinflammation (CEBPE)
• Immunodeficiency 11A (CARD11)
• Immunodeficiency 11B with atopic dermatitis (CARD11)
• Immunodeficiency 12 (MALT1)
• Immunodeficiency 14A, AD (PIK3CD)
• Immunodeficiency 14B, AR (PIK3CD)
• Immunodeficiency 15A (IKBKB)
• Immunodeficiency 15B (IKBKB)
• Immunodeficiency 17, CD3 gamma deficient (CD3G)
• Immunodeficiency 18 (CD3E)
• Immunodeficiency 18, SCID variant (CD3E)
• Immunodeficiency 19, severe combined (CD3D)
• Immunodeficiency 21 (GATA2)
• Immunodeficiency 22 (LCK)
• Immunodeficiency 23 (PGM3)
• Immunodeficiency 24 (CTPS1)
• Immunodeficiency 27A, mycobacteriosis, AR (IFNGR1)
• Immunodeficiency 27B, mycobacteriosis, AD (IFNGR1)
• Immunodeficiency 28, mycobacteriosis (IFNGR2))
• Immunodeficiency 30 (IL12RB1)
• Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
• Immunodeficiency 31B, mycobacterial + viral infections, AR (STAT1)
• Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
• Immunodeficiency 32A, mycobacteriosis, AD (IRF8)
• Immunodeficiency 32B, monocyte and dendritic cell deficiency, AR (IRF8)
• Immunodeficiency 33 (IKBKG syn. NEMO)
• Immunodeficiency 34, mycobacteriosis, XL (CYBB)
• Immunodeficiency 35 (TYK2)
• Immunodeficiency 36 (PIK3R1)
• Immunodeficiency 38 (ISG15)
• Immunodeficiency 40 (DOCK2)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodeficiency 42 (RORC)
• Immunodeficiency 43 (B2M)
• Immunodeficiency 44 (STAT2)
• Immunodeficiency 47 (ATP6AP1)
• Immunodeficiency 48 (ZAP70)
• Immunodeficiency 50 (MSN)
• Immunodeficiency 51 (IL17RA)
• Immunodeficiency 52 (LAT)
• Immunodeficiency 54 (MCM4)
• Immunodeficiency 55 (GINS1)
• Immunodeficiency 56 (IL21R)
• Immunodeficiency 57 with autoinflammation (RIPK1)
• Immunodeficiency 58 (CARMIL2)
• Immunodeficiency 60 + autoimmunity (BACH2
• Immunodeficiency 61 (SH3KBP1)
• Immunodeficiency 62 (ARHGEF1)
• Immunodeficiency 64 (RASGRP1)
• Immunodeficiency 67 (IRAK4)
• Immunodeficiency 68 (MYD88)
• Immunodeficiency 69, mycobacteriosis (IFNG)
• Immunodeficiency 7, TCR-alpha/beta deficient (TRAC)
• Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B)
• Immunodeficiency 73A with defective neutrophil chemotaxix + leukocytosis (RAC2)
• Immunodeficiency 73B with defective neutrophil chemotaxis + lymphopenia (RAC2)
• Immunodeficiency 73C with defective neutrophil chemotaxis + hypogammaglobulinemia (RAC2)
• Immunodeficiency 78 with autoimmunity + developmental delay (TPP2)
• Immunodeficiency 8 (CORO1A)
• Immunodeficiency 83, susceptibility to viral infections (TLR3)
• Immunodeficiency 86, mycobacteriosis (SPPL2A)
• Immunodeficiency 9 (ORAI1)
• Immunodeficiency 90 with encephalopathy, functional hyposplenia + hepatic dysfunction (FADD)
• Immunodeficiency 95 (IFIH1)
• Immunodeficiency due to a classical component pathway complement deficiency [panelapp] (C1R)
• Immunodeficiency due to defect in MAPBP-interacting protein (LAMTOR2)
• Immunodeficiency due to purine nucleoside phosphorylase deficiency (PNP)
• Immunodeficiency with hyper-IgM, type 2 (AICDA)
• Immunodeficiency with hyper-IgM, type 3 (CD40)
• Immunodeficiency with hyper-IgM, type 5 (UNG)
• Immunodeficiency with hypogammaglobulinaemia, lymphoproliferation, inflammatory disease (PIK2R1)
• Immunodeficiency, XL, with hyper-IgM (CD40LG)
• Immunodeficiency, XL, with magnesium defect, EBV infection + neoplasia (MAGT1)
• Immunodeficiency, common variable, 1 (ICOS)
• Immunodeficiency, common variable, 10 (NFKB2)
• Immunodeficiency, common variable, 12 (NFKB1)
• Immunodeficiency, common variable, 13 (ICZF1)
• Immunodeficiency, common variable, 14 (IRF2BP2)
• Immunodeficiency, common variable, 2 (TNFRSF13B)
• Immunodeficiency, common variable, 3 (CD19)
• Immunodeficiency, common variable, 5 (MS4A1)
• Immunodeficiency, common variable, 6 (CD81)
• Immunodeficiency, common variable, 7 (CR2)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (CDCA7)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (HELLS)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Immunoglobulin A deficiency 2 (TNFRSF13B)
• Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3)
• Inflammatory bowel disease 1, Crohn disease (NOD2)
• Inflammatory bowel disease 25, early onset, AR (IL10RB)
• Inflammatory bowel disease 28, early onset, AR (IL10RA)
• Interleukin 1 receptor antagonist deficiency (IL1RN)
• Isolated IgG subclass deficiency [panelapp] (CD19, ICOS)
• Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• LIG4 syndrome (LIG4)
• Leukocyte adhesion deficiency (ITGB2)
• Leukocyte adhesion deficiency, type III (FERMT3)
• Low NK number/function, rec. bact., viral, Cryptosporidium infections [panelapp] (MAP3K14)
• Lung disease, immunodeficiency + chromosome breakage syndrome (NSMCE3)
• Lupus [panelapp] (CR2)
• Lymphangiectasia + lymphedema with facial abnormalities + dysmorphic features [panelapp] (CCBE1)
• Lymphoproliferation, autoimmunity [panelapp] (PTEN)
• Lymphoproliferative syndrome 1 (ITK)
• Lymphoproliferative syndrome 2 (CD27)
• Lymphoproliferative syndrome 3 (CD70)
• Lymphoproliferative syndrome, XL, 1 (SH2D1A)
• Lymphoproliferative syndrome, XL, 2 (XIAP)
• Macroglobulinemia, Waldenstrom, somatic (MYD88)
• Majeed syndrome (LPIN2)
• Membrane Cofactor Protein (CD46) deficiency [panelapp] (CD46)
• Metaphyseal dysplasia without hypotrichosis (RMRP)
• Mevalonic aciduria (MVK)
• Mycobacterium tuberculosis, susceptibility to (SP110)
• Myelokathexis, isolated (CXCR4)
• NO80 deficiency [panelapp] (INO80)
• Nephrotic syndrome, type 14 (SGPL1)
• Netherton syndrome (SPINK5)
• Neutropenia [panelapp] (HTRA2)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 2, AD (GFI1)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital 4, AR (G6PC3)
• Neutropenia, severe congenital, 5, AR (VPS45)
• Neutropenia, severe congenital, 6, AR (JAGN1)
• Neutropenia, severe congenital, 7, AR (CSF3R)
• Neutropenia, severe congenital, 9, AD (CLPB)
• Neutropenia, severe congenital, XL (WAS)
• Neutropenia/hypo-Ig emia CD8 cytotoxicity/partial albinism/growth failure [panelapp] (LAMTOR2)
• Neutrophilia, hereditary (CSF3R)
• Neutrophilic dermatosis, acute febrile (MEFV)
• Nijmegen breakage syndrome (NBN)
• Oculocutan. albinism, bleeding, inflamm. bowel disease, pulmonary fibrosis [panalapp] (HPS1)
• Omenn syndrome (DCLRE1C, JAK3, RAG1, RAG2, RMRP)
• Papillon-Lefevre syndrome (CTSC)
• Partial albinism, fever, HSM, HLH, cytopenias [panelapp] (RAB27A)
• Partial albinism/rec. infections, fever/giant lysosomes/cytopenias/bleeding/neurol. dysfunct. (LYST
• Periodontitis 1, juvenile (CTSC)
• Pigmentary disorder, reticulate, with systemic manifestations, XL (POLA1)
• Pityriasis rubra pilaris (CARD14)
• Poikiloderma with neutropenia (USB1)
• Polyarteritis nodosa, childhood-onset, early recurrent ischemic stroke + fever [panelapp] (ADA2)
• Polyglucosan body myopathy 1 with/-out immunodeficiency (RBCK1)
• Predominant antibody defciency [panelapp] (AICDA ARHGEF1 ATP6AP1 BLNK CD19 CD79B CD81 CR2 IGLL1)
• Predominant antibody deficiency [panelapp] ( SEC61A1 SH3KBP1 SLC39A7 TCF3 TNFRSF13B UNG)
• Predominant antibody deficiency [panelapp] (IKZF1 INO80 IRF2BP2 MOGS MS4A1 NFKB1 NFKB2 PIK3CD PTEN)
• Primary immunodeficiency + multifaceted áberrant lymphoid immunity [panelapp] (MAP3K14)
• Primary immunodeficiency syndrome due to p14 deficiency [panelapp] (LAMTOR2)
• Prolidase deficiency (PEPD)
• Properdin deficiency, XL (CFP)
• Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
• Proteasome-associated autoinflammatory syndrome 2 (POMP)
• Pseudo-TORCH syndrome 3 (STAT2)
• Psoriasis 14, pustular (IL36RN)
• Psoriasis 2 (CARD14)
• Pulmonary alveolar proteinosis [panelapp] (CSF2RA)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• Pyogenic sterile arthritis, pyoderma gangrenosum + acne (PSTPIP1)
• RIDDLE syndrome: radiosensitivity/immunodeficiency/dysmorphic face, difficult learning (RNF168)
• Recessive atypical combined immunodeficiency [panelapp] (MAP3K14)
• Recurrent bacterial + viral infections [panelapp] (ICOSLG)
• Recurrent bacterial infections [panelapp] (TCF3)
• Recurrent bacterial, viral, fungal, opportunistic infections [panelapp] (IKBKB)
• Recurrent infections [panelapp] (CR2, MS4A1)
• Recurrent infections like e.g. glomerulonephritis [panelapp] (CD19 CD81)
• Recurrent infections, autoimmunity, gastroenteritis, granulomas [panelapp] (ICOS)
• Recurrent infections, bronchiectasis [panelapp] (ARHGEF1)
• Recurrent infections, facial dysmorphism, limb anomalies [panelapp] (TOP2B)
• Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections [panelapp] (LRBA)
• Recurrent infections, lymphoproliferation, autoimmunity [panelapp] (PTEN)
• Recurrent infections, possible autoimmunity + inflammatory disease [panelapp] (IRF2BP2)
• Recurrent sinopulmonary infections [panelapp] (IKZF1, NFKB1, NFKB2)
• Recurrent sinopulmonary infections, alopecia, endorinopathies [panelapp] (NFKB2)
• Recurrent sinopulmonary infections, selective IgA defiency [panelapp] (RAC2)
• Resistance to malaria due to G6PD deficiency (G6PD)
• Reticular dysgenesis (AK2)
• Reticular dysgenesis [panelapp] (RAC2)
• Reticular dysgenesis with sensorineural deafness [panelapp] (AK2)
• Rheumatoid arthritis, progression of (IL10)
• SCID, AR, T cell-negative, B cell-positive, NK cell-negative [panelapp] (JAK3)
• SCID, AR, T-negative/B-positive type (JAK3)
• SH3KBP1/CIN85 deficiency [panelapp] (SH3KBP1)
• SHORT syndrome (PIK3R1)
• STING-associated vasculopathy, infantile-onset (STING1)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Selective IgA deficiency [panelapp] (TNFRSF13B)
• Severe bacterial infections [panelapp] (INO80, SH3KBP1)
• Severe bacterial infections, decreased or absent pro-B cells [panelapp] (PIK3R1)
• Severe bacterial infections, normal numbers of pro-B cells [panelapp] (BLNK CD79A CD79B IGLL1)
• Severe bacterial infections, pro-B cells present, few memory B cells, EBV [panelapp] (PIK3R1)
• Severe combined immunodeficiency due to ADA deficiency (ADA)
• Severe combined immunodeficiency, SCID [panelapp] (LIG4)
• Severe combined immunodeficiency, XL (IL2RG)
• Severe combined immunodeficiency, microcephaly, growth retard., sensit. to ionizing radiat. (NHEJ1)
• Shwachman-Diamond syndrome 1 (SBDS)
• Sideroblastic anemia with B-cell immunodef., periodic fevers, developmental delay (TRNT1)
• Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, herpesviremia [panelapp] (PIK3CD)
• Sneddon syndrome (ADA2)
• Specific granule deficiency (CEBPE)
• Spondyloenchondrodysplasia with immune dysregulation (ACP5)
• Sterile multifocal osteomyelitis, periostitis + pustulosis [panelapp] (IL1RN)
• Stormorken s.: thrombocytopenia, anemia, asplenia, tub. aggr. myopathy, miosis/ichthyosis (STIM1)
• Surfactant metabolism dysfunction, pulmonary, 4 (CSF2RA)
• Surfactant metabolism dysfunction, pulmonary, 5 (CSF2RB)
• Susceptibility to mycobacteria (SPPL2A)
• Syndromic multisystem autoimmune disease due to Itch deficiency (panelapp] (ITCH)
• T-cell immunodeficiency, congenital alopecia + nail dystrophy (FOXN1)
• T-cell immunodeficiency, recurrent infections, autoimmunity + cardiac malformations (STK4)
• T-cell lymphopenia, infantile, with/-out nail dystrophy, AD (FOXN1)
• T-cell prolymphocytic leukemia, somatic (ATM)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Transcobalamin II deficiency (TCN2)
• Trichohepatoenteric syndrome 1 (SKIC3)
• Trichohepatoenteric syndrome 2 (SKIV2L)
• Type 1 interferonopathies [panelapp] (ADAR)
• Vasculitis, autoinflammation, immunodeficiency + hematologic defects syndrome (ADA2)
• Vasculopathy, retinal, with cerebral leukoencephalopathy, systemic manifestations (TREX1)
• Vici syndrome (EPG5)
• WHIM syndrome 1 (CXCR4)
• WHIM syndrome 2 (CXCR2)
• Wiskott-Aldrich syndrome 2 (WIPF1)
• Yao syndrome: periodic fever, dermatitis, arthritis, swelling distal extremities; multifact. (NOD2)