ORPHA:75391

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Synonyms: Primary immunodeficiency due to MCM4 deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood
Status: active

A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	Primary immunodeficiency due to MCM4 deficiency
fr	Déficit immunitaire primaire avec déficit en cellules NK et insuffisance surrénale	Déficit immunitaire primaire par déficit en MCM4 · Immunodéficience primaire avec déficit en cellules NK et insuffisance surrénale
de	Primärer Immundefekt mit Mangel der natürlichen Killerzellen und Nebenniereninsuffizienz	Primärer Immundefekt durch MCM4-Mangel
es	Inmunodeficiencia primaria con deficiencia de células natural-killer e insuficiencia suprarrenal	Inmunodeficiencia primaria por deficiencia en MCM4
it	Immunodeficienza primitiva con deficit delle cellule natural killer e insufficienza surrenalica	Immunodeficienza primitiva da deficit di MCM4
nl	Primaire immuundeficiëntie met deficiëntie van natuurlijke killercellen en adrenale insufficiëntie	Primaire immuundeficiëntie door MCM4-deficiëntie
pt	Imunodeficiência primária com deficiência de células NK e insuficiência supra-renal	Imunodeficiência primária por deficiência de MCM4
pl	Niedobór odporności z deficytem komórek naturalnych zabójców i niewydolnością nadnerczy	Pierwotny Niedobór odporności spowodowany deficytem MCM4
cs	Primární imunodeficience s deficitem NK buněk a adrenální nedostatečností	Primární imunodeficience způsobená deficitem MCM4
uk	Первинний імунодефіцит з дефіцитом натуральних кілерів та недостатністю надниркових залоз	Первинний імунодефіцит внаслідок дефіциту MCM4
zh	原发性免疫缺陷伴自然杀伤细胞缺乏和肾上腺功能减退	MCM4缺陷所致原发性免疫缺陷
tr	Doğal öldürücü hücre eksikliği ve adrenal yetmezlik ile seyreden primer immün yetmezlik	MCM4 eksikliğine bağlı primer immün yetmezlik

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609981	E		validated
ICD-10	D84.8	NTBT	attributed	validated
ICD-11	4A00.3	NTBT	attributed	validated
MONDO	0012383	E		validated
UMLS	C4518328	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98004Rare immune disease

Parents in the classifications (1):

ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
rare genetic diseases; rare immunological diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MCM4	Disease-causing germline mutation(s) in	Assessed	HGNC:6947	ENSG00000104738	602638	8q11.21	minichromosome maintenance complex component 4	22405088[PMID]_22354170[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	22354167[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_22354167[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/75391
This record as JSON: /data/d/75391.json