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Entry	Name	Description	Category	Gene
H00089	IFN-gamma/IL-12 axis Mendelian susceptibility to mycobacterial disease (MSMD)	The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe ...	Primary immunodeficiency	(IMD27) IFNGR1 [HSA:3459] [KO:K05132] (IMD28) IFNGR2 [HSA:3460] [KO:K05133] (IMD29) IL12B [HSA:3593] [KO:K05425] (IMD30) IL12RB1 [HSA:3594] [KO:K05063] (IMD31) STAT1 [HSA:6772] [KO:K11220] (IMD32) IRF8 [HSA:3394] [KO:K10155] (IMD33) IKBKG [HSA:8517] [KO:K07210] (IMD34) CYBB [HSA:1536] [KO:K21421] (IMD38) ISG15 [HSA:9636] [KO:K12159] (IMD42) RORC [HSA:6097] [KO:K08534]
H00095	Ectodermal dysplasia and immunodeficiency	Ectodermal dysplasia (ED) refers to a group of inherited disorders involving absence or dysplasia of the ectodermal appendages. Clinically, it is characterized by absence, abnormality, or deficient function ...	Immune system disease	(EDAID1) IKBKG [HSA:8517] [KO:K07210] (EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00540	Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) Ectodermal dysplasia and immunodeficiency 1 (EDAID1) Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema	A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which ...	Congenital malformation	IKBKG [HSA:8517] [KO:K07210]
H00645	Incontinentia pigmenti	Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular ...	Congenital malformation	IKBKG [HSA:8517] [KO:K07210]
H01245	Immunodeficiency without anhidrotic ectodermal dysplasia	A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal ...	Primary immunodeficiency	IKBKG [HSA:8517] [KO:K07210]
H02621	X-linked systemic autoinflammatory disease NEMO deleted exon 5 autoinflammatory syndrome	... exon 5 autoinflammatory syndrome (NDAS), is a pediatric autoinflammatory syndrome caused by X-linked IKBKG germline mutations that lead to overexpression of a NEMO protein isoform. Patients with SAIDX present ...	Immune system disease	IKBKG [HSA:8517] [KO:K07210]

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